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Francis Collins

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Procedures

Concepts & Ideas

Molecular Sequence Data

Chemicals & Drugs

Anatomy

Chromosomes, Human, Pair 17

Physiology

Living Beings

Mice

Genes & Molecular Sequences

Disorders

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Publications

TOP 3
Manolio Teri A; Collins Francis S; Cox Nancy J; Goldstein David B; Hindorff Lucia A; Hunter David J; McCarthy Mark I; Ramos Erin M; Cardon Lon R; Chakravarti Aravinda; Cho Judy H; Guttmacher Alan E; Kong Augustine; Kruglyak Leonid; Mardis Elaine; Rotimi Charles N; Slatkin Montgomery; Valle David; Whittemore Alice S; Boehnke Michael; Clark Andrew G; Eichler Evan E; Gibson Greg; Haines Jonathan L; Mackay Trudy F C; McCarroll Steven A; Visscher Peter M
Finding the missing heritability of complex diseases.
Guttmacher Alan E; Nabel Elizabeth G; Collins Francis S
Why data-sharing policies matter.
Prokunina-Olsson Ludmila; Welch Cullan; Hansson Ola; Adhikari Neeta; Scott Laura J; Usher Nicolle; Tong Maurine; Sprau Andrew; Swift Amy; Bonnycastle Lori L; Erdos Michael R; He Zhi; Saxena Richa; Harmon Brennan; Kotova Olga; Hoffman Eric P; Altshuler David; Groop Leif; Boehnke Michael; Collins Francis S; Hall Jennifer L
Tissue-specific alternative splicing of TCF7L2.

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All Publications

2009: Manolio Teri A; Collins Francis S; Cox Nancy J; Goldstein David B; Hindorff Lucia A; Hunter David J; McCarthy Mark I; Ramos Erin M; Cardon Lon R; Chakravarti Aravinda; Cho Judy H; Guttmacher Alan E; Kong Augustine; Kruglyak Leonid; Mardis Elaine; Rotimi Charles N; Slatkin Montgomery; Valle David; Whittemore Alice S; Boehnke Michael; Clark Andrew G; Eichler Evan E; Gibson Greg; Haines Jonathan L; Mackay Trudy F C; McCarroll Steven A; Visscher Peter M
Finding the missing heritability of complex diseases.
Nature 2009;461(7265):747-53.
2009: Guttmacher Alan E; Nabel Elizabeth G; Collins Francis S
Why data-sharing policies matter.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(40):16894.
2009: Prokunina-Olsson Ludmila; Welch Cullan; Hansson Ola; Adhikari Neeta; Scott Laura J; Usher Nicolle; Tong Maurine; Sprau Andrew; Swift Amy; Bonnycastle Lori L; Erdos Michael R; He Zhi; Saxena Richa; Harmon Brennan; Kotova Olga; Hoffman Eric P; Altshuler David; Groop Leif; Boehnke Michael; Collins Francis S; Hall Jennifer L
Tissue-specific alternative splicing of TCF7L2.
Human molecular genetics 2009;18(20):3795-804.
2009: Stancáková Alena; Kuulasmaa Teemu; Paananen Jussi; Jackson Anne U; Bonnycastle Lori L; Collins Francis S; Boehnke Michael; Kuusisto Johanna; Laakso Markku
Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men.
Diabetes 2009;58(9):2129-36.
2009: Khoury Muin J; McBride Colleen M; Schully Sheri D; Ioannidis John P A; Feero W Gregory; Janssens A Cecile J W; Gwinn Marta; Simons-Morton Denise G; Bernhardt Jay M; Cargill Michele; Chanock Stephen J; Church George M; Coates Ralph J; Collins Francis S; Croyle Robert T; Davis Barry R; Downing Gregory J; Duross Amy; Friedman Susan; Gail Mitchell H; Ginsburg Geoffrey S; Green Robert C; Greene Mark H; Greenland Philip; Gulcher Jeffrey R; Hsu Andro; Hudson Kathy L; Kardia Sharon L R; Kimmel Paul L; Lauer Michael S; Miller Amy M; Offit Kenneth; Ransohoff David F; Roberts J Scott; Rasooly Rebekah S; Stefansson Kari; Terry Sharon F; Teutsch Steven M; Trepanier Angela; Wanke Kay L; Witte John S; Xu Jianfeng
The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(8):559-67.
2009: Novotny Elizabeth; Compton Sheila; Liu P Paul; Collins Francis S; Chandrasekharappa Settara C
In vitro hematopoietic differentiation of mouse embryonic stem cells requires the tumor suppressor menin and is mediated by Hoxa9.
Mechanisms of development 2009;126(7):517-22.
2009: Lindgren Cecilia M; Heid Iris M; Randall Joshua C; Lamina Claudia; Steinthorsdottir Valgerdur; Qi Lu; Speliotes Elizabeth K; Thorleifsson Gudmar; Willer Cristen J; Herrera Blanca M; Jackson Anne U; Lim Noha; Scheet Paul; Soranzo Nicole; Amin Najaf; Aulchenko Yurii S; Chambers John C; Drong Alexander; Luan Jian'an; Lyon Helen N; Rivadeneira Fernando; Sanna Serena; Timpson Nicholas J; Zillikens M Carola; Zhao Jing Hua; Almgren Peter; Bandinelli Stefania; Bennett Amanda J; Bergman Richard N; Bonnycastle Lori L; Bumpstead Suzannah J; Chanock Stephen J; Cherkas Lynn; Chines Peter; Coin Lachlan; Cooper Cyrus; Crawford Gabriel; Doering Angela; Dominiczak Anna; Doney Alex S F; Ebrahim Shah; Elliott Paul; Erdos Michael R; Estrada Karol; Ferrucci Luigi; Fischer Guido; Forouhi Nita G; Gieger Christian; Grallert Harald; Groves Christopher J; Grundy Scott; Guiducci Candace; Hadley David; Hamsten Anders; Havulinna Aki S; Hofman Albert; Holle Rolf; Holloway John W; Illig Thomas; Isomaa Bo; Jacobs Leonie C; Jameson Karen; Jousilahti Pekka; Karpe Fredrik; Kuusisto Johanna; Laitinen Jaana; Lathrop G Mark; Lawlor Debbie A; Mangino Massimo; McArdle Wendy L; Meitinger Thomas; Morken Mario A; Morris Andrew P; Munroe Patricia; Narisu Narisu; Nordström Anna; Nordström Peter; Oostra Ben A; Palmer Colin N A; Payne Felicity; Peden John F; Prokopenko Inga; Renström Frida; Ruokonen Aimo; Salomaa Veikko; Sandhu Manjinder S; Scott Laura J; Scuteri Angelo; Silander Kaisa; Song Kijoung; Yuan Xin; Stringham Heather M; Swift Amy J; Tuomi Tiinamaija; Uda Manuela; Vollenweider Peter; Waeber Gerard; Wallace Chris; Walters G Bragi; Weedon Michael N; Witteman Jacqueline C M; Zhang Cuilin; Zhang Weihua; Caulfield Mark J; Collins Francis S; Davey Smith George; Day Ian N M; Franks Paul W; Hattersley Andrew T; Hu Frank B; Jarvelin Marjo-Riitta; Kong Augustine; Kooner Jaspal S; Laakso Markku; Lakatta Edward; Mooser Vincent; Morris Andrew D; Peltonen Leena; Samani Nilesh J; Spector Timothy D; Strachan David P; Tanaka Toshiko; Tuomilehto Jaakko; Uitterlinden André G; van Duijn Cornelia M; Wareham Nicholas J; Hugh Watkins; Waterworth Dawn M; Boehnke Michael; Deloukas Panos; Groop Leif; Hunter David J; Thorsteinsdottir Unnur; Schlessinger David; Wichmann H-Erich; Frayling Timothy M; Abecasis Gonçalo R; Hirschhorn Joel N; Loos Ruth J F; Stefansson Kari; Mohlke Karen L; Barroso Inês; McCarthy Mark I;
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.
PLoS genetics 2009;5(6):e1000508.
2009: Hindorff Lucia A; Sethupathy Praveen; Junkins Heather A; Ramos Erin M; Mehta Jayashri P; Collins Francis S; Manolio Teri A
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(23):9362-7.
2009: Willer Cristen J; Speliotes Elizabeth K; Loos Ruth J F; Li Shengxu; Lindgren Cecilia M; Heid Iris M; Berndt Sonja I; Elliott Amanda L; Jackson Anne U; Lamina Claudia; Lettre Guillaume; Lim Noha; Lyon Helen N; McCarroll Steven A; Papadakis Konstantinos; Qi Lu; Randall Joshua C; Roccasecca Rosa Maria; Sanna Serena; Scheet Paul; Weedon Michael N; Wheeler Eleanor; Zhao Jing Hua; Jacobs Leonie C; Prokopenko Inga; Soranzo Nicole; Tanaka Toshiko; Timpson Nicholas J; Almgren Peter; Bennett Amanda; Bergman Richard N; Bingham Sheila A; Bonnycastle Lori L; Brown Morris; Burtt Noël P; Chines Peter; Coin Lachlan; Collins Francis S; Connell John M; Cooper Cyrus; Smith George Davey; Dennison Elaine M; Deodhar Parimal; Elliott Paul; Erdos Michael R; Estrada Karol; Evans David M; Gianniny Lauren; Gieger Christian; Gillson Christopher J; Guiducci Candace; Hackett Rachel; Hadley David; Hall Alistair S; Havulinna Aki S; Hebebrand Johannes; Hofman Albert; Isomaa Bo; Jacobs Kevin B; Johnson Toby; Jousilahti Pekka; Jovanovic Zorica; Khaw Kay-Tee; Kraft Peter; Kuokkanen Mikko; Kuusisto Johanna; Laitinen Jaana; Lakatta Edward G; Luan Jian'an; Luben Robert N; Mangino Massimo; McArdle Wendy L; Meitinger Thomas; Mulas Antonella; Munroe Patricia B; Narisu Narisu; Ness Andrew R; Northstone Kate; O'Rahilly Stephen; Purmann Carolin; Rees Matthew G; Ridderstråle Martin; Ring Susan M; Rivadeneira Fernando; Ruokonen Aimo; Sandhu Manjinder S; Saramies Jouko; Scott Laura J; Scuteri Angelo; Silander Kaisa; Sims Matthew A; Song Kijoung; Stephens Jonathan; Stevens Suzanne; Stringham Heather M; Tung Y C Loraine; Valle Timo T; Van Duijn Cornelia M; Vimaleswaran Karani S; Vollenweider Peter; Waeber Gerard; Wallace Chris; Watanabe Richard M; Waterworth Dawn M; Watkins Nicholas; Witteman Jacqueline C M; Zeggini Eleftheria; Zhai Guangju; Zillikens M Carola; Altshuler David; Caulfield Mark J; Chanock Stephen J; Farooqi I Sadaf; Ferrucci Luigi; Guralnik Jack M; Hattersley Andrew T; Hu Frank B; Jarvelin Marjo-Riitta; Laakso Markku; Mooser Vincent; Ong Ken K; Ouwehand Willem H; Salomaa Veikko; Samani Nilesh J; Spector Timothy D; Tuomi Tiinamaija; Tuomilehto Jaakko; Uda Manuela; Uitterlinden André G; Wareham Nicholas J; Deloukas Panagiotis; Frayling Timothy M; Groop Leif C; Hayes Richard B; Hunter David J; Mohlke Karen L; Peltonen Leena; Schlessinger David; Strachan David P; Wichmann H-Erich; McCarthy Mark I; Boehnke Michael; Barroso Inês; Abecasis Gonçalo R; Hirschhorn Joel N;
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
Nature genetics 2009;41(1):25-34.
2009: Prokopenko Inga; Langenberg Claudia; Florez Jose C; Saxena Richa; Soranzo Nicole; Thorleifsson Gudmar; Loos Ruth J F; Manning Alisa K; Jackson Anne U; Aulchenko Yurii; Potter Simon C; Erdos Michael R; Sanna Serena; Hottenga Jouke-Jan; Wheeler Eleanor; Kaakinen Marika; Lyssenko Valeriya; Chen Wei-Min; Ahmadi Kourosh; Beckmann Jacques S; Bergman Richard N; Bochud Murielle; Bonnycastle Lori L; Buchanan Thomas A; Cao Antonio; Cervino Alessandra; Coin Lachlan; Collins Francis S; Crisponi Laura; de Geus Eco J C; Dehghan Abbas; Deloukas Panos; Doney Alex S F; Elliott Paul; Freimer Nelson; Gateva Vesela; Herder Christian; Hofman Albert; Hughes Thomas E; Hunt Sarah; Illig Thomas; Inouye Michael; Isomaa Bo; Johnson Toby; Kong Augustine; Krestyaninova Maria; Kuusisto Johanna; Laakso Markku; Lim Noha; Lindblad Ulf; Lindgren Cecilia M; McCann Owen T; Mohlke Karen L; Morris Andrew D; Naitza Silvia; Orrù Marco; Palmer Colin N A; Pouta Anneli; Randall Joshua; Rathmann Wolfgang; Saramies Jouko; Scheet Paul; Scott Laura J; Scuteri Angelo; Sharp Stephen; Sijbrands Eric; Smit Jan H; Song Kijoung; Steinthorsdottir Valgerdur; Stringham Heather M; Tuomi Tiinamaija; Tuomilehto Jaakko; Uitterlinden André G; Voight Benjamin F; Waterworth Dawn; Wichmann H-Erich; Willemsen Gonneke; Witteman Jacqueline C M; Yuan Xin; Zhao Jing Hua; Zeggini Eleftheria; Schlessinger David; Sandhu Manjinder; Boomsma Dorret I; Uda Manuela; Spector Tim D; Penninx Brenda Wjh; Altshuler David; Vollenweider Peter; Jarvelin Marjo Riitta; Lakatta Edward; Waeber Gerard; Fox Caroline S; Peltonen Leena; Groop Leif C; Mooser Vincent; Cupples L Adrienne; Thorsteinsdottir Unnur; Boehnke Michael; Barroso Inês; Van Duijn Cornelia; Dupuis Josée; Watanabe Richard M; Stefansson Kari; McCarthy Mark I; Wareham Nicholas J; Meigs James B; Abecasis Gonçalo R
Variants in MTNR1B influence fasting glucose levels.
Nature genetics 2009;41(1):77-81.
2009: Kathiresan Sekar; Willer Cristen J; Peloso Gina M; Demissie Serkalem; Musunuru Kiran; Schadt Eric E; Kaplan Lee; Bennett Derrick; Li Yun; Tanaka Toshiko; Voight Benjamin F; Bonnycastle Lori L; Jackson Anne U; Crawford Gabriel; Surti Aarti; Guiducci Candace; Burtt Noel P; Parish Sarah; Clarke Robert; Zelenika Diana; Kubalanza Kari A; Morken Mario A; Scott Laura J; Stringham Heather M; Galan Pilar; Swift Amy J; Kuusisto Johanna; Bergman Richard N; Sundvall Jouko; Laakso Markku; Ferrucci Luigi; Scheet Paul; Sanna Serena; Uda Manuela; Yang Qiong; Lunetta Kathryn L; Dupuis Josée; de Bakker Paul I W; O'Donnell Christopher J; Chambers John C; Kooner Jaspal S; Hercberg Serge; Meneton Pierre; Lakatta Edward G; Scuteri Angelo; Schlessinger David; Tuomilehto Jaakko; Collins Francis S; Groop Leif; Altshuler David; Collins Rory; Lathrop G Mark; Melander Olle; Salomaa Veikko; Peltonen Leena; Orho-Melander Marju; Ordovas Jose M; Boehnke Michael; Abecasis Gonçalo R; Mohlke Karen L; Cupples L Adrienne
Common variants at 30 loci contribute to polygenic dyslipidemia.
Nature genetics 2009;41(1):56-65.
2009: Prokunina-Olsson Ludmila; Kaplan Lee M; Schadt Eric E; Collins Francis S
Alternative splicing of TCF7L2 gene in omental and subcutaneous adipose tissue and risk of type 2 diabetes.
PloS one 2009;4(9):e7231.
2009: Goode Ellen L; Szabo Csilla; Prokunina-Olsson Ludmila; Vierkant Robert A; Fredericksen Zachary S; Collins Francis S; White Kristin L; Schmidt Michele; Fridley Brooke L; Couch Fergus J
No association between a candidate TCF7L2 variant and risk of breast or ovarian cancer.
BMC cancer 2009;9():312.
2009: Manolio Teri A; Collins Francis S
The HapMap and genome-wide association studies in diagnosis and therapy.
Annual review of medicine 2009;60():443-56.
2008: Gaulton Kyle J; Willer Cristen J; Li Yun; Scott Laura J; Conneely Karen N; Jackson Anne U; Duren William L; Chines Peter S; Narisu Narisu; Bonnycastle Lori L; Luo Jingchun; Tong Maurine; Sprau Andrew G; Pugh Elizabeth W; Doheny Kimberly F; Valle Timo T; Abecasis Gonçalo R; Tuomilehto Jaakko; Bergman Richard N; Collins Francis S; Boehnke Michael; Mohlke Karen L
Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes.
Diabetes 2008;57(11):3136-44.
2008: Capell Brian C; Olive Michelle; Erdos Michael R; Cao Kan; Faddah Dina A; Tavarez Urraca L; Conneely Karen N; Qu Xuan; San Hong; Ganesh Santhi K; Chen Xiaoyan; Avallone Hedwig; Kolodgie Frank D; Virmani Renu; Nabel Elizabeth G; Collins Francis S
A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(41):15902-7.
2008: Sethupathy Praveen; Collins Francis S
MicroRNA target site polymorphisms and human disease.
Trends in genetics : TIG 2008;24(10):489-97.
2008: Collins Francis S
Retrospective: Victor A. McKusick (1921-2008).
Science (New York, N.Y.) 2008;321(5891):925.
2008: Chen Wei-Min; Erdos Michael R; Jackson Anne U; Saxena Richa; Sanna Serena; Silver Kristi D; Timpson Nicholas J; Hansen Torben; Orrù Marco; Grazia Piras Maria; Bonnycastle Lori L; Willer Cristen J; Lyssenko Valeriya; Shen Haiqing; Kuusisto Johanna; Ebrahim Shah; Sestu Natascia; Duren William L; Spada Maria Cristina; Stringham Heather M; Scott Laura J; Olla Nazario; Swift Amy J; Najjar Samer; Mitchell Braxton D; Lawlor Debbie A; Smith George Davey; Ben-Shlomo Yoav; Andersen Gitte; Borch-Johnsen Knut; Jørgensen Torben; Saramies Jouko; Valle Timo T; Buchanan Thomas A; Shuldiner Alan R; Lakatta Edward; Bergman Richard N; Uda Manuela; Tuomilehto Jaakko; Pedersen Oluf; Cao Antonio; Groop Leif; Mohlke Karen L; Laakso Markku; Schlessinger David; Collins Francis S; Altshuler David; Abecasis Gonçalo R; Boehnke Michael; Scuteri Angelo; Watanabe Richard M
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.
The Journal of clinical investigation 2008;118(7):2620-8.
2008: Hudson Kathy L; Holohan M K; Collins Francis S
Keeping pace with the times--the Genetic Information Nondiscrimination Act of 2008.
The New England journal of medicine 2008;358(25):2661-3.
2008: Loos Ruth J F; Lindgren Cecilia M; Li Shengxu; Wheeler Eleanor; Zhao Jing Hua; Prokopenko Inga; Inouye Michael; Freathy Rachel M; Attwood Antony P; Beckmann Jacques S; Berndt Sonja I; Jacobs Kevin B; Chanock Stephen J; Hayes Richard B; Bergmann Sven; Bennett Amanda J; Bingham Sheila A; Bochud Murielle; Brown Morris; Cauchi Stéphane; Connell John M; Cooper Cyrus; Smith George Davey; Day Ian; Dina Christian; De Subhajyoti; Dermitzakis Emmanouil T; Doney Alex S F; Elliott Katherine S; Elliott Paul; Evans David M; Sadaf Farooqi I; Froguel Philippe; Ghori Jilur; Groves Christopher J; Gwilliam Rhian; Hadley David; Hall Alistair S; Hattersley Andrew T; Hebebrand Johannes; Heid Iris M; Lamina Claudia; Gieger Christian; Illig Thomas; Meitinger Thomas; Wichmann H-Erich; Herrera Blanca; Hinney Anke; Hunt Sarah E; Jarvelin Marjo-Riitta; Johnson Toby; Jolley Jennifer D M; Karpe Fredrik; Keniry Andrew; Khaw Kay-Tee; Luben Robert N; Mangino Massimo; Marchini Jonathan; McArdle Wendy L; McGinnis Ralph; Meyre David; Munroe Patricia B; Morris Andrew D; Ness Andrew R; Neville Matthew J; Nica Alexandra C; Ong Ken K; O'Rahilly Stephen; Owen Katharine R; Palmer Colin N A; Papadakis Konstantinos; Potter Simon; Pouta Anneli; Qi Lu; Randall Joshua C; Rayner Nigel W; Ring Susan M; Sandhu Manjinder S; Scherag André; Sims Matthew A; Song Kijoung; Soranzo Nicole; Speliotes Elizabeth K; Syddall Holly E; Teichmann Sarah A; Timpson Nicholas J; Tobias Jonathan H; Uda Manuela; Vogel Carla I Ganz; Wallace Chris; Waterworth Dawn M; Weedon Michael N; Willer Cristen J; Wraight; Yuan Xin; Zeggini Eleftheria; Hirschhorn Joel N; Strachan David P; Ouwehand Willem H; Caulfield Mark J; Samani Nilesh J; Frayling Timothy M; Vollenweider Peter; Waeber Gerard; Mooser Vincent; Deloukas Panos; McCarthy Mark I; Wareham Nicholas J; Barroso Inês; Jacobs Kevin B; Chanock Stephen J; Hayes Richard B; Lamina Claudia; Gieger Christian; Illig Thomas; Meitinger Thomas; Wichmann H-Erich; Kraft Peter; Hankinson Susan E; Hunter David J; Hu Frank B; Lyon Helen N; Voight Benjamin F; Ridderstrale Martin; Groop Leif; Scheet Paul; Sanna Serena; Abecasis Goncalo R; Albai Giuseppe; Nagaraja Ramaiah; Schlessinger David; Jackson Anne U; Tuomilehto Jaakko; Collins Francis S; Boehnke Michael; Mohlke Karen L
Common variants near MC4R are associated with fat mass, weight and risk of obesity.
Nature genetics 2008;40(6):768-75.
2008: Manolio Teri A; Brooks Lisa D; Collins Francis S
A HapMap harvest of insights into the genetics of common disease.
The Journal of clinical investigation 2008;118(5):1590-605.
2008: Zeggini Eleftheria; Scott Laura J; Saxena Richa; Voight Benjamin F; Marchini Jonathan L; Hu Tianle; de Bakker Paul I W; Abecasis Gonçalo R; Almgren Peter; Andersen Gitte; Ardlie Kristin; Boström Kristina Bengtsson; Bergman Richard N; Bonnycastle Lori L; Borch-Johnsen Knut; Burtt Noël P; Chen Hong; Chines Peter S; Daly Mark J; Deodhar Parimal; Ding Chia-Jen; Doney Alex S F; Duren William L; Elliott Katherine S; Erdos Michael R; Frayling Timothy M; Freathy Rachel M; Gianniny Lauren; Grallert Harald; Grarup Niels; Groves Christopher J; Guiducci Candace; Hansen Torben; Herder Christian; Hitman Graham A; Hughes Thomas E; Isomaa Bo; Jackson Anne U; Jørgensen Torben; Kong Augustine; Kubalanza Kari; Kuruvilla Finny G; Kuusisto Johanna; Langenberg Claudia; Lango Hana; Lauritzen Torsten; Li Yun; Lindgren Cecilia M; Lyssenko Valeriya; Marvelle Amanda F; Meisinger Christa; Midthjell Kristian; Mohlke Karen L; Morken Mario A; Morris Andrew D; Narisu Narisu; Nilsson Peter; Owen Katharine R; Palmer Colin N A; Payne Felicity; Perry John R B; Pettersen Elin; Platou Carl; Prokopenko Inga; Qi Lu; Qin Li; Rayner Nigel W; Rees Matthew; Roix Jeffrey J; Sandbaek Anelli; Shields Beverley; Sjögren Marketa; Steinthorsdottir Valgerdur; Stringham Heather M; Swift Amy J; Thorleifsson Gudmar; Thorsteinsdottir Unnur; Timpson Nicholas J; Tuomi Tiinamaija; Tuomilehto Jaakko; Walker Mark; Watanabe Richard M; Weedon Michael N; Willer Cristen J; Illig Thomas; Hveem Kristian; Hu Frank B; Laakso Markku; Stefansson Kari; Pedersen Oluf; Wareham Nicholas J; Barroso Inês; Hattersley Andrew T; Collins Francis S; Groop Leif; McCarthy Mark I; Boehnke Michael; Altshuler David
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
Nature genetics 2008;40(5):638-45.
2008: Agalliu Ilir; Suuriniemi Miia; Prokunina-Olsson Ludmila; Johanneson Bo; Collins Francis S; Stanford Janet L; Ostrander Elaine A
Evaluation of a variant in the transcription factor 7-like 2 (TCF7L2) gene and prostate cancer risk in a population-based study.
The Prostate 2008;68(7):740-7.
2008: Sagelius Hanna; Rosengardten Ylva; Hanif Mubashir; Erdos Michael R; Rozell Björn; Collins Francis S; Eriksson Maria
Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease.
Journal of cell science 2008;121(Pt 7):969-78.
2008: Feero W Gregory; Guttmacher Alan E; Collins Francis S
The genome gets personal--almost.
JAMA : the journal of the American Medical Association 2008;299(11):1351-2.
2008: Shen H-C Jennifer; Rosen Jennifer E; Yang Lauren M; Savage Sharon A; Burns A Lee; Mateo Carmen M; Agarwal Sunita K; Chandrasekharappa Settara C; Spiegel Allen M; Collins Francis S; Marx Stephen J; Libutti Steven K
Parathyroid tumor development involves deregulation of homeobox genes.
Endocrine-related cancer 2008;15(1):267-75.
2008: Collins Francis S; Gray George M; Bucher John R
Toxicology. Transforming environmental health protection.
Science (New York, N.Y.) 2008;319(5865):906-7.
2008: Merideth Melissa A; Gordon Leslie B; Clauss Sarah; Sachdev Vandana; Smith Ann C M; Perry Monique B; Brewer Carmen C; Zalewski Christopher; Kim H Jeffrey; Solomon Beth; Brooks Brian P; Gerber Lynn H; Turner Maria L; Domingo Demetrio L; Hart Thomas C; Graf Jennifer; Reynolds James C; Gropman Andrea; Yanovski Jack A; Gerhard-Herman Marie; Collins Francis S; Nabel Elizabeth G; Cannon Richard O; Gahl William A; Introne Wendy J
Phenotype and course of Hutchinson-Gilford progeria syndrome.
The New England journal of medicine 2008;358(6):592-604.
2008: Sanna Serena; Jackson Anne U; Nagaraja Ramaiah; Willer Cristen J; Chen Wei-Min; Bonnycastle Lori L; Shen Haiqing; Timpson Nicholas; Lettre Guillaume; Usala Gianluca; Chines Peter S; Stringham Heather M; Scott Laura J; Dei Mariano; Lai Sandra; Albai Giuseppe; Crisponi Laura; Naitza Silvia; Doheny Kimberly F; Pugh Elizabeth W; Ben-Shlomo Yoav; Ebrahim Shah; Lawlor Debbie A; Bergman Richard N; Watanabe Richard M; Uda Manuela; Tuomilehto Jaakko; Coresh Josef; Hirschhorn Joel N; Shuldiner Alan R; Schlessinger David; Collins Francis S; Davey Smith George; Boerwinkle Eric; Cao Antonio; Boehnke Michael; Abecasis Gonçalo R; Mohlke Karen L
Common variants in the GDF5-UQCC region are associated with variation in human height.
Nature genetics 2008;40(2):198-203.
2008: Willer Cristen J; Sanna Serena; Jackson Anne U; Scuteri Angelo; Bonnycastle Lori L; Clarke Robert; Heath Simon C; Timpson Nicholas J; Najjar Samer S; Stringham Heather M; Strait James; Duren William L; Maschio Andrea; Busonero Fabio; Mulas Antonella; Albai Giuseppe; Swift Amy J; Morken Mario A; Narisu Narisu; Bennett Derrick; Parish Sarah; Shen Haiqing; Galan Pilar; Meneton Pierre; Hercberg Serge; Zelenika Diana; Chen Wei-Min; Li Yun; Scott Laura J; Scheet Paul A; Sundvall Jouko; Watanabe Richard M; Nagaraja Ramaiah; Ebrahim Shah; Lawlor Debbie A; Ben-Shlomo Yoav; Davey-Smith George; Shuldiner Alan R; Collins Rory; Bergman Richard N; Uda Manuela; Tuomilehto Jaakko; Cao Antonio; Collins Francis S; Lakatta Edward; Lathrop G Mark; Boehnke Michael; Schlessinger David; Mohlke Karen L; Abecasis Gonçalo R
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
Nature genetics 2008;40(2):161-9.
2007: Ji Youngmi; Prasad Nijaguna B; Novotny Elizabeth A; Kaur Sukhbir; Elkahloun Abdel; Chen Yidong; Zhang Rui-Zhu; Chu Mon-Li; Agarwal Sunita K; Marx Stephen J; Collins Francis S; Chandrasekharappa Settara C
Mouse embryo fibroblasts lacking the tumor suppressor menin show altered expression of extracellular matrix protein genes.
Molecular cancer research : MCR 2007;5(10):1041-51.
2007: Sabeti Pardis C; Varilly Patrick; Fry Ben; Lohmueller Jason; Hostetter Elizabeth; Cotsapas Chris; Xie Xiaohui; Byrne Elizabeth H; McCarroll Steven A; Gaudet Rachelle; Schaffner Stephen F; Lander Eric S; Frazer Kelly A; Ballinger Dennis G; Cox David R; Hinds David A; Stuve Laura L; Gibbs Richard A; Belmont John W; Boudreau Andrew; Hardenbol Paul; Leal Suzanne M; Pasternak Shiran; Wheeler David A; Willis Thomas D; Yu Fuli; Yang Huanming; Zeng Changqing; Gao Yang; Hu Haoran; Hu Weitao; Li Chaohua; Lin Wei; Liu Siqi; Pan Hao; Tang Xiaoli; Wang Jian; Wang Wei; Yu Jun; Zhang Bo; Zhang Qingrun; Zhao Hongbin; Zhao Hui; Zhou Jun; Gabriel Stacey B; Barry Rachel; Blumenstiel Brendan; Camargo Amy; Defelice Matthew; Faggart Maura; Goyette Mary; Gupta Supriya; Moore Jamie; Nguyen Huy; Onofrio Robert C; Parkin Melissa; Roy Jessica; Stahl Erich; Winchester Ellen; Ziaugra Liuda; Altshuler David; Shen Yan; Yao Zhijian; Huang Wei; Chu Xun; He Yungang; Jin Li; Liu Yangfan; Shen Yayun; Sun Weiwei; Wang Haifeng; Wang Yi; Wang Ying; Xiong Xiaoyan; Xu Liang; Waye Mary M Y; Tsui Stephen K W; Xue Hong; Wong J Tze-Fei; Galver Luana M; Fan Jian-Bing; Gunderson Kevin; Murray Sarah S; Oliphant Arnold R; Chee Mark S; Montpetit Alexandre; Chagnon Fanny; Ferretti Vincent; Leboeuf Martin; Olivier Jean-François; Phillips Michael S; Roumy Stéphanie; Sallée Clémentine; Verner Andrei; Hudson Thomas J; Kwok Pui-Yan; Cai Dongmei; Koboldt Daniel C; Miller Raymond D; Pawlikowska Ludmila; Taillon-Miller Patricia; Xiao Ming; Tsui Lap-Chee; Mak William; Song You Qiang; Tam Paul K H; Nakamura Yusuke; Kawaguchi Takahisa; Kitamoto Takuya; Morizono Takashi; Nagashima Atsushi; Ohnishi Yozo; Sekine Akihiro; Tanaka Toshihiro; Tsunoda Tatsuhiko; Deloukas Panos; Bird Christine P; Delgado Marcos; Dermitzakis Emmanouil T; Gwilliam Rhian; Hunt Sarah; Morrison Jonathan; Powell Don; Stranger Barbara E; Whittaker Pamela; Bentley David R; Daly Mark J; de Bakker Paul I W; Barrett Jeff; Chretien Yves R; Maller Julian; McCarroll Steve; Patterson Nick; Pe'er Itsik; Price Alkes; Purcell Shaun; Richter Daniel J; Sabeti Pardis; Saxena Richa; Schaffner Stephen F; Sham Pak C; Varilly Patrick; Altshuler David; Stein Lincoln D; Krishnan Lalitha; Smith Albert Vernon; Tello-Ruiz Marcela K; Thorisson Gudmundur A; Chakravarti Aravinda; Chen Peter E; Cutler David J; Kashuk Carl S; Lin Shin; Abecasis Gonçalo R; Guan Weihua; Li Yun; Munro Heather M; Qin Zhaohui Steve; Thomas Daryl J; McVean Gilean; Auton Adam; Bottolo Leonardo; Cardin Niall; Eyheramendy Susana; Freeman Colin; Marchini Jonathan; Myers Simon; Spencer Chris; Stephens Matthew; Donnelly Peter; Cardon Lon R; Clarke Geraldine; Evans David M; Morris Andrew P; Weir Bruce S; Tsunoda Tatsuhiko; Johnson Todd A; Mullikin James C; Sherry Stephen T; Feolo Michael; Skol Andrew; Zhang Houcan; Zeng Changqing; Zhao Hui; Matsuda Ichiro; Fukushima Yoshimitsu; Macer Darryl R; Suda Eiko; Rotimi Charles N; Adebamowo Clement A; Ajayi Ike; Aniagwu Toyin; Marshall Patricia A; Nkwodimmah Chibuzor; Royal Charmaine D M; Leppert Mark F; Dixon Missy; Peiffer Andy; Qiu Renzong; Kent Alastair; Kato Kazuto; Niikawa Norio; Adewole Isaac F; Knoppers Bartha M; Foster Morris W; Clayton Ellen Wright; Watkin Jessica; Gibbs Richard A; Belmont John W; Muzny Donna; Nazareth Lynne; Sodergren Erica; Weinstock George M; Wheeler David A; Yakub Imtaz; Gabriel Stacey B; Onofrio Robert C; Richter Daniel J; Ziaugra Liuda; Birren Bruce W; Daly Mark J; Altshuler David; Wilson Richard K; Fulton Lucinda L; Rogers Jane; Burton John; Carter Nigel P; Clee Christopher M; Griffiths Mark; Jones Matthew C; McLay Kirsten; Plumb Robert W; Ross Mark T; Sims Sarah K; Willey David L; Chen Zhu; Han Hua; Kang Le; Godbout Martin; Wallenburg John C; L'Archevêque Paul; Bellemare Guy; Saeki Koji; Wang Hongguang; An Daochang; Fu Hongbo; Li Qing; Wang Zhen; Wang Renwu; Holden Arthur L; Brooks Lisa D; McEwen Jean E; Guyer Mark S; Wang Vivian Ota; Peterson Jane L; Shi Michael; Spiegel Jack; Sung Lawrence M; Zacharia Lynn F; Collins Francis S; Kennedy Karen; Jamieson Ruth; Stewart John
Genome-wide detection and characterization of positive selection in human populations.
Nature 2007;449(7164):913-8.
2007: Frazer Kelly A; Ballinger Dennis G; Cox David R; Hinds David A; Stuve Laura L; Gibbs Richard A; Belmont John W; Boudreau Andrew; Hardenbol Paul; Leal Suzanne M; Pasternak Shiran; Wheeler David A; Willis Thomas D; Yu Fuli; Yang Huanming; Zeng Changqing; Gao Yang; Hu Haoran; Hu Weitao; Li Chaohua; Lin Wei; Liu Siqi; Pan Hao; Tang Xiaoli; Wang Jian; Wang Wei; Yu Jun; Zhang Bo; Zhang Qingrun; Zhao Hongbin; Zhao Hui; Zhou Jun; Gabriel Stacey B; Barry Rachel; Blumenstiel Brendan; Camargo Amy; Defelice Matthew; Faggart Maura; Goyette Mary; Gupta Supriya; Moore Jamie; Nguyen Huy; Onofrio Robert C; Parkin Melissa; Roy Jessica; Stahl Erich; Winchester Ellen; Ziaugra Liuda; Altshuler David; Shen Yan; Yao Zhijian; Huang Wei; Chu Xun; He Yungang; Jin Li; Liu Yangfan; Shen Yayun; Sun Weiwei; Wang Haifeng; Wang Yi; Wang Ying; Xiong Xiaoyan; Xu Liang; Waye Mary M Y; Tsui Stephen K W; Xue Hong; Wong J Tze-Fei; Galver Luana M; Fan Jian-Bing; Gunderson Kevin; Murray Sarah S; Oliphant Arnold R; Chee Mark S; Montpetit Alexandre; Chagnon Fanny; Ferretti Vincent; Leboeuf Martin; Olivier Jean-François; Phillips Michael S; Roumy Stéphanie; Sallée Clémentine; Verner Andrei; Hudson Thomas J; Kwok Pui-Yan; Cai Dongmei; Koboldt Daniel C; Miller Raymond D; Pawlikowska Ludmila; Taillon-Miller Patricia; Xiao Ming; Tsui Lap-Chee; Mak William; Song You Qiang; Tam Paul K H; Nakamura Yusuke; Kawaguchi Takahisa; Kitamoto Takuya; Morizono Takashi; Nagashima Atsushi; Ohnishi Yozo; Sekine Akihiro; Tanaka Toshihiro; Tsunoda Tatsuhiko; Deloukas Panos; Bird Christine P; Delgado Marcos; Dermitzakis Emmanouil T; Gwilliam Rhian; Hunt Sarah; Morrison Jonathan; Powell Don; Stranger Barbara E; Whittaker Pamela; Bentley David R; Daly Mark J; de Bakker Paul I W; Barrett Jeff; Chretien Yves R; Maller Julian; McCarroll Steve; Patterson Nick; Pe'er Itsik; Price Alkes; Purcell Shaun; Richter Daniel J; Sabeti Pardis; Saxena Richa; Schaffner Stephen F; Sham Pak C; Varilly Patrick; Altshuler David; Stein Lincoln D; Krishnan Lalitha; Smith Albert Vernon; Tello-Ruiz Marcela K; Thorisson Gudmundur A; Chakravarti Aravinda; Chen Peter E; Cutler David J; Kashuk Carl S; Lin Shin; Abecasis Gonçalo R; Guan Weihua; Li Yun; Munro Heather M; Qin Zhaohui Steve; Thomas Daryl J; McVean Gilean; Auton Adam; Bottolo Leonardo; Cardin Niall; Eyheramendy Susana; Freeman Colin; Marchini Jonathan; Myers Simon; Spencer Chris; Stephens Matthew; Donnelly Peter; Cardon Lon R; Clarke Geraldine; Evans David M; Morris Andrew P; Weir Bruce S; Tsunoda Tatsuhiko; Mullikin James C; Sherry Stephen T; Feolo Michael; Skol Andrew; Zhang Houcan; Zeng Changqing; Zhao Hui; Matsuda Ichiro; Fukushima Yoshimitsu; Macer Darryl R; Suda Eiko; Rotimi Charles N; Adebamowo Clement A; Ajayi Ike; Aniagwu Toyin; Marshall Patricia A; Nkwodimmah Chibuzor; Royal Charmaine D M; Leppert Mark F; Dixon Missy; Peiffer Andy; Qiu Renzong; Kent Alastair; Kato Kazuto; Niikawa Norio; Adewole Isaac F; Knoppers Bartha M; Foster Morris W; Clayton Ellen Wright; Watkin Jessica; Gibbs Richard A; Belmont John W; Muzny Donna; Nazareth Lynne; Sodergren Erica; Weinstock George M; Wheeler David A; Yakub Imtaz; Gabriel Stacey B; Onofrio Robert C; Richter Daniel J; Ziaugra Liuda; Birren Bruce W; Daly Mark J; Altshuler David; Wilson Richard K; Fulton Lucinda L; Rogers Jane; Burton John; Carter Nigel P; Clee Christopher M; Griffiths Mark; Jones Matthew C; McLay Kirsten; Plumb Robert W; Ross Mark T; Sims Sarah K; Willey David L; Chen Zhu; Han Hua; Kang Le; Godbout Martin; Wallenburg John C; L'Archevêque Paul; Bellemare Guy; Saeki Koji; Wang Hongguang; An Daochang; Fu Hongbo; Li Qing; Wang Zhen; Wang Renwu; Holden Arthur L; Brooks Lisa D; McEwen Jean E; Guyer Mark S; Wang Vivian Ota; Peterson Jane L; Shi Michael; Spiegel Jack; Sung Lawrence M; Zacharia Lynn F; Collins Francis S; Kennedy Karen; Jamieson Ruth; Stewart John
A second generation human haplotype map of over 3.1 million SNPs.
Nature 2007;449(7164):851-61.
2007: Feero W Gregory; Manolio Teri A; Guttmacher Alan E; Collins Francis S
Validity of reported genetic risk factors for acute coronary syndrome.
JAMA : the journal of the American Medical Association 2007;298(15):1757; author reply 1759.
2007: Manolio Teri A; Rodriguez Laura Lyman; Brooks Lisa; Abecasis Gonçalo; Ballinger Dennis; Daly Mark; Donnelly Peter; Faraone Stephen V; Frazer Kelly; Gabriel Stacey; Gejman Pablo; Guttmacher Alan; Harris Emily L; Insel Thomas; Kelsoe John R; Lander Eric; McCowin Norma; Mailman Matthew D; Nabel Elizabeth; Ostell James; Pugh Elizabeth; Sherry Stephen; Sullivan Patrick F; Thompson John F; Warram James; Wholley David; Milos Patrice M; Collins Francis S
New models of collaboration in genome-wide association studies: the Genetic Association Information Network.
Nature genetics 2007;39(9):1045-51.
2007: Lowrance William W; Collins Francis S
Ethics. Identifiability in genomic research.
Science (New York, N.Y.) 2007;317(5838):600-2.
2007: Capell Brian C; Collins Francis S; Nabel Elizabeth G
Mechanisms of cardiovascular disease in accelerated aging syndromes.
Circulation research 2007;101(1):13-26.
2007: Birney Ewan; Stamatoyannopoulos John A; Dutta Anindya; Guigó Roderic; Gingeras Thomas R; Margulies Elliott H; Weng Zhiping; Snyder Michael; Dermitzakis Emmanouil T; Thurman Robert E; Kuehn Michael S; Taylor Christopher M; Neph Shane; Koch Christoph M; Asthana Saurabh; Malhotra Ankit; Adzhubei Ivan; Greenbaum Jason A; Andrews Robert M; Flicek Paul; Boyle Patrick J; Cao Hua; Carter Nigel P; Clelland Gayle K; Davis Sean; Day Nathan; Dhami Pawandeep; Dillon Shane C; Dorschner Michael O; Fiegler Heike; Giresi Paul G; Goldy Jeff; Hawrylycz Michael; Haydock Andrew; Humbert Richard; James Keith D; Johnson Brett E; Johnson Ericka M; Frum Tristan T; Rosenzweig Elizabeth R; Karnani Neerja; Lee Kirsten; Lefebvre Gregory C; Navas Patrick A; Neri Fidencio; Parker Stephen C J; Sabo Peter J; Sandstrom Richard; Shafer Anthony; Vetrie David; Weaver Molly; Wilcox Sarah; Yu Man; Collins Francis S; Dekker Job; Lieb Jason D; Tullius Thomas D; Crawford Gregory E; Sunyaev Shamil; Noble William S; Dunham Ian; Denoeud France; Reymond Alexandre; Kapranov Philipp; Rozowsky Joel; Zheng Deyou; Castelo Robert; Frankish Adam; Harrow Jennifer; Ghosh Srinka; Sandelin Albin; Hofacker Ivo L; Baertsch Robert; Keefe Damian; Dike Sujit; Cheng Jill; Hirsch Heather A; Sekinger Edward A; Lagarde Julien; Abril Josep F; Shahab Atif; Flamm Christoph; Fried Claudia; Hackermüller Jörg; Hertel Jana; Lindemeyer Manja; Missal Kristin; Tanzer Andrea; Washietl Stefan; Korbel Jan; Emanuelsson Olof; Pedersen Jakob S; Holroyd Nancy; Taylor Ruth; Swarbreck David; Matthews Nicholas; Dickson Mark C; Thomas Daryl J; Weirauch Matthew T; Gilbert James; Drenkow Jorg; Bell Ian; Zhao XiaoDong; Srinivasan K G; Sung Wing-Kin; Ooi Hong Sain; Chiu Kuo Ping; Foissac Sylvain; Alioto Tyler; Brent Michael; Pachter Lior; Tress Michael L; Valencia Alfonso; Choo Siew Woh; Choo Chiou Yu; Ucla Catherine; Manzano Caroline; Wyss Carine; Cheung Evelyn; Clark Taane G; Brown James B; Ganesh Madhavan; Patel Sandeep; Tammana Hari; Chrast Jacqueline; Henrichsen Charlotte N; Kai Chikatoshi; Kawai Jun; Nagalakshmi Ugrappa; Wu Jiaqian; Lian Zheng; Lian Jin; Newburger Peter; Zhang Xueqing; Bickel Peter; Mattick John S; Carninci Piero; Hayashizaki Yoshihide; Weissman Sherman; Hubbard Tim; Myers Richard M; Rogers Jane; Stadler Peter F; Lowe Todd M; Wei Chia-Lin; Ruan Yijun; Struhl Kevin; Gerstein Mark; Antonarakis Stylianos E; Fu Yutao; Green Eric D; Karaöz Ulas; Siepel Adam; Taylor James; Liefer Laura A; Wetterstrand Kris A; Good Peter J; Feingold Elise A; Guyer Mark S; Cooper Gregory M; Asimenos George; Dewey Colin N; Hou Minmei; Nikolaev Sergey; Montoya-Burgos Juan I; Löytynoja Ari; Whelan Simon; Pardi Fabio; Massingham Tim; Huang Haiyan; Zhang Nancy R; Holmes Ian; Mullikin James C; Ureta-Vidal Abel; Paten Benedict; Seringhaus Michael; Church Deanna; Rosenbloom Kate; Kent W James; Stone Eric A; Batzoglou Serafim; Goldman Nick; Hardison Ross C; Haussler David; Miller Webb; Sidow Arend; Trinklein Nathan D; Zhang Zhengdong D; Barrera Leah; Stuart Rhona; King David C; Ameur Adam; Enroth Stefan; Bieda Mark C; Kim Jonghwan; Bhinge Akshay A; Jiang Nan; Liu Jun; Yao Fei; Vega Vinsensius B; Lee Charlie W H; Ng Patrick; Shahab Atif; Yang Annie; Moqtaderi Zarmik; Zhu Zhou; Xu Xiaoqin; Squazzo Sharon; Oberley Matthew J; Inman David; Singer Michael A; Richmond Todd A; Munn Kyle J; Rada-Iglesias Alvaro; Wallerman Ola; Komorowski Jan; Fowler Joanna C; Couttet Phillippe; Bruce Alexander W; Dovey Oliver M; Ellis Peter D; Langford Cordelia F; Nix David A; Euskirchen Ghia; Hartman Stephen; Urban Alexander E; Kraus Peter; Van Calcar Sara; Heintzman Nate; Kim Tae Hoon; Wang Kun; Qu Chunxu; Hon Gary; Luna Rosa; Glass Christopher K; Rosenfeld M Geoff; Aldred Shelley Force; Cooper Sara J; Halees Anason; Lin Jane M; Shulha Hennady P; Zhang Xiaoling; Xu Mousheng; Haidar Jaafar N S; Yu Yong; Ruan Yijun; Iyer Vishwanath R; Green Roland D; Wadelius Claes; Farnham Peggy J; Ren Bing; Harte Rachel A; Hinrichs Angie S; Trumbower Heather; Clawson Hiram; Hillman-Jackson Jennifer; Zweig Ann S; Smith Kayla; Thakkapallayil Archana; Barber Galt; Kuhn Robert M; Karolchik Donna; Armengol Lluis; Bird Christine P; de Bakker Paul I W; Kern Andrew D; Lopez-Bigas Nuria; Martin Joel D; Stranger Barbara E; Woodroffe Abigail; Davydov Eugene; Dimas Antigone; Eyras Eduardo; Hallgrímsdóttir Ingileif B; Huppert Julian; Zody Michael C; Abecasis Gonçalo R; Estivill Xavier; Bouffard Gerard G; Guan Xiaobin; Hansen Nancy F; Idol Jacquelyn R; Maduro Valerie V B; Maskeri Baishali; McDowell Jennifer C; Park Morgan; Thomas Pamela J; Young Alice C; Blakesley Robert W; Muzny Donna M; Sodergren Erica; Wheeler David A; Worley Kim C; Jiang Huaiyang; Weinstock George M; Gibbs Richard A; Graves Tina; Fulton Robert; Mardis Elaine R; Wilson Richard K; Clamp Michele; Cuff James; Gnerre Sante; Jaffe David B; Chang Jean L; Lindblad-Toh Kerstin; Lander Eric S; Koriabine Maxim; Nefedov Mikhail; Osoegawa Kazutoyo; Yoshinaga Yuko; Zhu Baoli; de Jong Pieter J
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.
Nature 2007;447(7146):799-816.
2007: Chanock Stephen J; Manolio Teri; Boehnke Michael; Boerwinkle Eric; Hunter David J; Thomas Gilles; Hirschhorn Joel N; Abecasis Goncalo; Altshuler David; Bailey-Wilson Joan E; Brooks Lisa D; Cardon Lon R; Daly Mark; Donnelly Peter; Fraumeni Joseph F; Freimer Nelson B; Gerhard Daniela S; Gunter Chris; Guttmacher Alan E; Guyer Mark S; Harris Emily L; Hoh Josephine; Hoover Robert; Kong C Augustine; Merikangas Kathleen R; Morton Cynthia C; Palmer Lyle J; Phimister Elizabeth G; Rice John P; Roberts Jerry; Rotimi Charles; Tucker Margaret A; Vogan Kyle J; Wacholder Sholom; Wijsman Ellen M; Winn Deborah M; Collins Francis S
Replicating genotype-phenotype associations.
Nature 2007;447(7145):655-60.
2007: Scott Laura J; Mohlke Karen L; Bonnycastle Lori L; Willer Cristen J; Li Yun; Duren William L; Erdos Michael R; Stringham Heather M; Chines Peter S; Jackson Anne U; Prokunina-Olsson Ludmila; Ding Chia-Jen; Swift Amy J; Narisu Narisu; Hu Tianle; Pruim Randall; Xiao Rui; Li Xiao-Yi; Conneely Karen N; Riebow Nancy L; Sprau Andrew G; Tong Maurine; White Peggy P; Hetrick Kurt N; Barnhart Michael W; Bark Craig W; Goldstein Janet L; Watkins Lee; Xiang Fang; Saramies Jouko; Buchanan Thomas A; Watanabe Richard M; Valle Timo T; Kinnunen Leena; Abecasis Gonçalo R; Pugh Elizabeth W; Doheny Kimberly F; Bergman Richard N; Tuomilehto Jaakko; Collins Francis S; Boehnke Michael
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
Science (New York, N.Y.) 2007;316(5829):1341-5.
2007: Ozawa Atsushi; Agarwal Sunita K; Mateo Carmen M; Burns A Lee; Rice Terri S; Kennedy Patricia A; Quigley Caitlin M; Simonds William F; Weinstein Lee S; Chandrasekharappa Settara C; Collins Francis S; Spiegel Allen M; Marx Stephen J
The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations.
The Journal of clinical endocrinology and metabolism 2007;92(5):1948-51.
2007: Collins Francis S; Finnell Richard H; Rossant Janet; Wurst Wolfgang
A new partner for the international knockout mouse consortium.
Cell 2007;129(2):235.
2007: Cao Kan; Capell Brian C; Erdos Michael R; Djabali Karima; Collins Francis S
A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(12):4949-54.
2007: Collins Francis S; Barker Anna D
Mapping the cancer genome. Pinpointing the genes involved in cancer will help chart a new course across the complex landscape of human malignancies.
Scientific American 2007;296(3):50-7.
2007: Agarwal Sunita K; Impey Soren; McWeeney Shannon; Scacheri Peter C; Collins Francis S; Goodman Richard H; Spiegel Allen M; Marx Stephen J
Distribution of menin-occupied regions in chromatin specifies a broad role of menin in transcriptional regulation.
Neoplasia (New York, N.Y.) 2007;9(2):101-7.
2007: Sieving Paul A; Collins Francis S
Genetic ophthalmology and the era of clinical care.
JAMA : the journal of the American Medical Association 2007;297(7):733-6.
2007: Collins Francis S; Manolio Teri A
Merging and emerging cohorts: necessary but not sufficient.
Nature 2007;445(7125):259.
2007: Collins Francis S; Rossant Janet; Wurst Wolfgang
A mouse for all reasons.
Cell 2007;128(1):9-13.
2007: Willer Cristen J; Bonnycastle Lori L; Conneely Karen N; Duren William L; Jackson Anne U; Scott Laura J; Narisu Narisu; Chines Peter S; Skol Andrew; Stringham Heather M; Petrie John; Erdos Michael R; Swift Amy J; Enloe Sareena T; Sprau Andrew G; Smith Eboni; Tong Maurine; Doheny Kimberly F; Pugh Elizabeth W; Watanabe Richard M; Buchanan Thomas A; Valle Timo T; Bergman Richard N; Tuomilehto Jaakko; Mohlke Karen L; Collins Francis S; Boehnke Michael
Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes.
Diabetes 2007;56(1):256-64.
2007: Baffoe-Bonnie Agnes B; Kittles Rick A; Gillanders Elizabeth; Ou Liang; George Asha; Robbins Christiane; Ahaghotu Chiledum; Bennett James; Boykin William; Hoke Gerald; Mason Terry; Pettaway Curtis; Vijayakumar Srinivasan; Weinrich Sally; Jones Mary P; Gildea Derek; Riedesel Erica; Albertus Julie; Moses Tracy; Lockwood Erica; Klaric Meghan; Faruque Mezbah; Royal Charmaine; Trent Jeffrey M; Berg Kate; Collins Francis S; Furbert-Harris Paulette M; Bailey-Wilson Joan E; Dunston Georgia M; Powell Isaac; Carpten John D
Genome-wide linkage of 77 families from the African American Hereditary Prostate Cancer study (AAHPC).
The Prostate 2007;67(1):22-31.
2007: McClintock Dayle; Ratner Desiree; Lokuge Meepa; Owens David M; Gordon Leslie B; Collins Francis S; Djabali Karima
The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin.
PloS one 2007;2(12):e1269.
2007: Manolio Teri A; Collins Francis S
Genes, environment, health, and disease: facing up to complexity.
Human heredity 2007;63(2):63-6.
2007: Shtir Corina; Nagakawa I Sharon; Duren William L; Conneely Karen N; Scott Laura J; Silander Kaisa; Valle Timo T; Tuomilehto Jaakko; Buchanan Thomas A; Bergman Richard N; Collins Francis S; Boehnke Michael; Watanabe Richard M
Subsets of Finns with high HDL to total cholesterol ratio show evidence for linkage to type 2 diabetes on chromosome 6q.
Human heredity 2007;63(1):17-25.
2006: Capell Brian C; Collins Francis S
Human laminopathies: nuclei gone genetically awry.
Nature reviews. Genetics 2006;7(12):940-52.
2006: Manolio Teri A; Bailey-Wilson Joan E; Collins Francis S
Genes, environment and the value of prospective cohort studies.
Nature reviews. Genetics 2006;7(10):812-20.
2006: Cerrato Aniello; Parisi Michael; Santa Anna Sonia; Missirlis Fanis; Guru Siradanahalli; Agarwal Sunita; Sturgill David; Talbot Thomas; Spiegel Allen; Collins Francis; Chandrasekharappa Settara; Marx Stephen; Oliver Brian
Genetic interactions between Drosophila melanogaster menin and Jun/Fos.
Developmental biology 2006;298(1):59-70.
2006: Scott Laura J; Bonnycastle Lori L; Willer Cristen J; Sprau Andrew G; Jackson Anne U; Narisu Narisu; Duren William L; Chines Peter S; Stringham Heather M; Erdos Michael R; Valle Timo T; Tuomilehto Jaakko; Bergman Richard N; Mohlke Karen L; Collins Francis S; Boehnke Michael
Association of transcription factor 7-like 2 (TCF7L2) variants with type 2 diabetes in a Finnish sample.
Diabetes 2006;55(9):2649-53.
2006: Bonnycastle Lori L; Willer Cristen J; Conneely Karen N; Jackson Anne U; Burrill Cecily P; Watanabe Richard M; Chines Peter S; Narisu Narisu; Scott Laura J; Enloe Sareena T; Swift Amy J; Duren William L; Stringham Heather M; Erdos Michael R; Riebow Nancy L; Buchanan Thomas A; Valle Timo T; Tuomilehto Jaakko; Bergman Richard N; Mohlke Karen L; Boehnke Michael; Collins Francis S
Common variants in maturity-onset diabetes of the young genes contribute to risk of type 2 diabetes in Finns.
Diabetes 2006;55(9):2534-40.
2006: Collins Francis S
2005 William Allan Award address. No longer just looking under the lamppost.
American journal of human genetics 2006;79(3):421-6.
2006: Crawford Gregory E; Davis Sean; Scacheri Peter C; Renaud Gabriel; Halawi Mohamad J; Erdos Michael R; Green Roland; Meltzer Paul S; Wolfsberg Tyra G; Collins Francis S
DNase-chip: a high-resolution method to identify DNase I hypersensitive sites using tiled microarrays.
Nature methods 2006;3(7):503-9.
2006: Bernat John A; Crawford Gregory E; Ogurtsov Aleksey Y; Collins Francis S; Ginsburg David; Kondrashov Alexey S
Distant conserved sequences flanking endothelial-specific promoters contain tissue-specific DNase-hypersensitive sites and over-represented motifs.
Human molecular genetics 2006;15(13):2098-105.
2006: Shumaker Dale K; Dechat Thomas; Kohlmaier Alexander; Adam Stephen A; Bozovsky Matthew R; Erdos Michael R; Eriksson Maria; Goldman Anne E; Khuon Satya; Collins Francis S; Jenuwein Thomas; Goldman Robert D
Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(23):8703-8.
2006: Alexander Duane F; Alving Barbara M; Battey James F; Berg Jeremy M; Collins Francis S; Fauci Anthony S; Gallin John I; Grady Patricia A; Hodes Richard J; Hrynkow Sharon H; Insel Thomas R; Jones Jack F; Katz Stephen I; Landis Story C; Li Ting-Kai; Lindberg Donald A; Nabel Elizabeth G; Niederhuber John E; Pettigrew Roderic I; Rodgers Griffin P; Ruffin John; Scarpa Antonio; Schwartz David A; Sieving Paul A; Straus Stephen E; Tabak Lawrence A; Volkow Nora D
Response to: "Rescuing the NIH before it is too late".
The Journal of clinical investigation 2006;116(6):1462-3.
2006: Kittles R A; Baffoe-Bonnie A B; Moses T Y; Robbins C M; Ahaghotu C; Huusko P; Pettaway C; Vijayakumar S; Bennett J; Hoke G; Mason T; Weinrich S; Trent J M; Collins F S; Mousses S; Bailey-Wilson J; Furbert-Harris P; Dunston G; Powell I J; Carpten J D
A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history.
Journal of medical genetics 2006;43(6):507-11.
2006: Scacheri Peter C; Davis Sean; Odom Duncan T; Crawford Gregory E; Perkins Stacie; Halawi Mohamad J; Agarwal Sunita K; Marx Stephen J; Spiegel Allen M; Meltzer Paul S; Collins Francis S
Genome-wide analysis of menin binding provides insights into MEN1 tumorigenesis.
PLoS genetics 2006;2(4):e51.
2006: Bonilla C; Panguluri R K; Taliaferro-Smith L; Argyropoulos G; Chen G; Adeyemo A A; Amoah A; Owusu S; Acheampong J; Agyenim-Boateng K; Eghan B A; Oli J; Okafor G; Abbiyesuku F; Johnson T; Rufus T; Fasanmade O; Chen Y; Collins F S; Dunston G M; Rotimi C; Kittles R A
Agouti-related protein promoter variant associated with leanness and decreased risk for diabetes in West Africans.
International journal of obesity (2005) 2006;30(4):715-21.
2006: Varga Renee; Eriksson Maria; Erdos Michael R; Olive Michelle; Harten Ingrid; Kolodgie Frank; Capell Brian C; Cheng Jun; Faddah Dina; Perkins Stacie; Avallone Hedwig; San Hong; Qu Xuan; Ganesh Santhi; Gordon Leslie B; Virmani Renu; Wight Thomas N; Nabel Elizabeth G; Collins Francis S
Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(9):3250-5.
2006: Willer Cristen J; Scott Laura J; Bonnycastle Lori L; Jackson Anne U; Chines Peter; Pruim Randall; Bark Craig W; Tsai Ya-Yu; Pugh Elizabeth W; Doheny Kimberly F; Kinnunen Leena; Mohlke Karen L; Valle Timo T; Bergman Richard N; Tuomilehto Jaakko; Collins Francis S; Boehnke Michael
Tag SNP selection for Finnish individuals based on the CEPH Utah HapMap database.
Genetic epidemiology 2006;30(2):180-90.
2006: Crawford Gregory E; Holt Ingeborg E; Whittle James; Webb Bryn D; Tai Denise; Davis Sean; Margulies Elliott H; Chen YiDong; Bernat John A; Ginsburg David; Zhou Daixing; Luo Shujun; Vasicek Thomas J; Daly Mark J; Wolfsberg Tyra G; Collins Francis S
Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS).
Genome research 2006;16(1):123-31.
2005: Mohlke Karen L; Jackson Anne U; Scott Laura J; Peck Erin C; Suh Yong D; Chines Peter S; Watanabe Richard M; Buchanan Thomas A; Conneely Karen N; Erdos Michael R; Narisu Narisu; Enloe Sareena; Valle Timo T; Tuomilehto Jaakko; Bergman Richard N; Boehnke Michael; Collins Francis S
Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns.
Human genetics 2005;118(2):245-54.
2005: Guttmacher Alan E; Collins Francis S
Realizing the promise of genomics in biomedical research.
JAMA : the journal of the American Medical Association 2005;294(11):1399-402.
2005: Capell Brian C; Erdos Michael R; Madigan James P; Fiordalisi James J; Varga Renee; Conneely Karen N; Gordon Leslie B; Der Channing J; Cox Adrienne D; Collins Francis S
Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(36):12879-84.
2005: Adeyemo Adebowale A; Johnson Thomas; Acheampong Joseph; Oli Johnnie; Okafor Godfrey; Amoah Albert; Owusu Samuel; Agyenim-Boateng Kofi; Eghan Benjamin A; Abbiyesuku Fayeofori; Fasanmade Olufemi; Rufus Theresa; Doumatey Ayo; Chen Guanjie; Zhou Jie; Chen Yuanxiu; Furbert-Harris Paulette; Dunston Georgia; Collins Francis; Rotimi Charles
A genome wide quantitative trait linkage analysis for serum lipids in type 2 diabetes in an African population.
Atherosclerosis 2005;181(2):389-97.
2005: Mohlke Karen L; Skol Andrew D; Scott Laura J; Valle Timo T; Bergman Richard N; Tuomilehto Jaakko; Boehnke Michael; Collins Francis S;
Evaluation of SLC2A10 (GLUT10) as a candidate gene for type 2 diabetes and related traits in Finns.
Molecular genetics and metabolism 2005;85(4):323-7.
2005: Agarwal S K; Kennedy P A; Scacheri P C; Novotny E A; Hickman A B; Cerrato A; Rice T S; Moore J B; Rao S; Ji Y; Mateo C; Libutti S K; Oliver B; Chandrasekharappa S C; Burns A L; Collins F S; Spiegel A M; Marx S J
Menin molecular interactions: insights into normal functions and tumorigenesis.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 2005;37(6):369-74.
2005: Chen G; Adeyemo A A; Johnson T; Zhou J; Amoah A; Owusu S; Acheampong J; Agyenim-Boateng K; Eghan B A; Oli J; Okafor G; Abbiyesuku F; Dunston G M; Chen Y; Collins F; Rotimi C
A genome-wide scan for quantitative trait loci linked to obesity phenotypes among West Africans.
International journal of obesity (2005) 2005;29(3):255-9.
2005: Chen Yuanxiu; Kittles Rick; Zhou Jie; Chen Guanjie; Adeyemo Adebowale; Panguluri Ramesh K; Chen Weidong; Amoah Albert; Opoku Victoria; Acheampong Joseph; Agyenim-Boateng Kofi; Eghan Benjamin Ackon; Nyantaki Awuah; Oli Johnnie; Okafor Godfrey; Ofoegbu Esther; Osotimehin Babatunde; Abbiyesuku Fayeofori; Johnson Thomas; Fasanmade Olufemi; Rufus Theresa; Furbert-Harris Paulette; Daniel Harold I; Berg Kate A; Collins Francis S; Dunston Georgia M; Rotimi Charles N
Calpain-10 gene polymorphisms and type 2 diabetes in West Africans: the Africa America Diabetes Mellitus (AADM) Study.
Annals of epidemiology 2005;15(2):153-9.
2005: Bonham Vence L; Warshauer-Baker Esther; Collins Francis S
Race and ethnicity in the genome era: the complexity of the constructs.
The American psychologist 2005;60(1):9-15.
2005: Jenkins Jean; Grady Patricia A; Collins Francis S
Nurses and the genomic revolution.
Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing / Sigma Theta Tau 2005;37(2):98-101.
2004: Scacheri Peter C; Crabtree Judy S; Kennedy Alyssa L; Swain Gary P; Ward Jerrold M; Marx Stephen J; Spiegel Allen M; Collins Francis S
Homozygous loss of menin is well tolerated in liver, a tissue not affected in MEN1.
Mammalian genome : official journal of the International Mammalian Genome Society 2004;15(11):872-7.
2004: Guttmacher Alan E; Collins Francis S; Carmona Richard H
The family history--more important than ever.
The New England journal of medicine 2004;351(22):2333-6.
2004: Austin Christopher P; Brady Linda S; Insel Thomas R; Collins Francis S
NIH Molecular Libraries Initiative.
Science (New York, N.Y.) 2004;306(5699):1138-9.
2004: Collins Francis S
What we do and don't know about 'race', 'ethnicity', genetics and health at the dawn of the genome era.
Nature genetics 2004;36(11 Suppl):S13-5.
2004: Conneely K N; Silander K; Scott L J; Mohlke K L; Lazaridis K N; Valle T T; Tuomilehto J; Bergman R N; Watanabe R M; Buchanan T A; Collins F S; Boehnke M
Variation in the resistin gene is associated with obesity and insulin-related phenotypes in Finnish subjects.
Diabetologia 2004;47(10):1782-8.
2004: Gerhard Daniela S; Wagner Lukas; Feingold Elise A; Shenmen Carolyn M; Grouse Lynette H; Schuler Greg; Klein Steven L; Old Susan; Rasooly Rebekah; Good Peter; Guyer Mark; Peck Allison M; Derge Jeffery G; Lipman David; Collins Francis S; Jang Wonhee; Sherry Steven; Feolo Mike; Misquitta Leonie; Lee Eduardo; Rotmistrovsky Kirill; Greenhut Susan F; Schaefer Carl F; Buetow Kenneth; Bonner Tom I; Haussler David; Kent Jim; Kiekhaus Mark; Furey Terry; Brent Michael; Prange Christa; Schreiber Kirsten; Shapiro Nicole; Bhat Narayan K; Hopkins Ralph F; Hsie Florence; Driscoll Tom; Soares M Bento; Casavant Tom L; Scheetz Todd E; Brown-stein Michael J; Usdin Ted B; Toshiyuki Shiraki; Carninci Piero; Piao Yulan; Dudekula Dawood B; Ko Minoru S H; Kawakami Koichi; Suzuki Yutaka; Sugano Sumio; Gruber C E; Smith M R; Simmons Blake; Moore Troy; Waterman Richard; Johnson Stephen L; Ruan Yijun; Wei Chia Lin; Mathavan S; Gunaratne Preethi H; Wu Jiaqian; Garcia Angela M; Hulyk Stephen W; Fuh Edwin; Yuan Ye; Sneed Anna; Kowis Carla; Hodgson Anne; Muzny Donna M; McPherson John; Gibbs Richard A; Fahey Jessica; Helton Erin; Ketteman Mark; Madan Anuradha; Rodrigues Stephanie; Sanchez Amy; Whiting Michelle; Madari Anup; Young Alice C; Wetherby Keith D; Granite Steven J; Kwong Peggy N; Brinkley Charles P; Pearson Russell L; Bouffard Gerard G; Blakesly Robert W; Green Eric D; Dickson Mark C; Rodriguez Alex C; Grimwood Jane; Schmutz Jeremy; Myers Richard M; Butterfield Yaron S N; Griffith Malachi; Griffith Obi L; Krzywinski Martin I; Liao Nancy; Morin Ryan; Palmquist Diana; Petrescu Anca S; Skalska Ursula; Smailus Duane E; Stott Jeff M; Schnerch Angelique; Schein Jacqueline E; Jones Steven J M; Holt Robert A; Baross Agnes; Marra Marco A; Clifton Sandra; Makowski Kathryn A; Bosak Stephanie; Malek Joel;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome research 2004;14(10B):2121-7.
2004: Scacheri Peter C; Kennedy Alyssa L; Chin Koei; Miller Meghan T; Hodgson J Graeme; Gray Joe W; Marx Stephen J; Spiegel Allen M; Collins Francis S
Pancreatic insulinomas in multiple endocrine neoplasia, type I knockout mice can develop in the absence of chromosome instability or microsatellite instability.
Cancer research 2004;64(19):7039-44.
2004: Austin Christopher P; Battey James F; Bradley Allan; Bucan Maja; Capecchi Mario; Collins Francis S; Dove William F; Duyk Geoffrey; Dymecki Susan; Eppig Janan T; Grieder Franziska B; Heintz Nathaniel; Hicks Geoff; Insel Thomas R; Joyner Alexandra; Koller Beverly H; Lloyd K C Kent; Magnuson Terry; Moore Mark W; Nagy Andras; Pollock Jonathan D; Roses Allen D; Sands Arthur T; Seed Brian; Skarnes William C; Snoddy Jay; Soriano Philippe; Stewart David J; Stewart Francis; Stillman Bruce; Varmus Harold; Varticovski Lyuba; Verma Inder M; Vogt Thomas F; von Melchner Harald; Witkowski Jan; Woychik Richard P; Wurst Wolfgang; Yancopoulos George D; Young Stephen G; Zambrowicz Brian
The knockout mouse project.
Nature genetics 2004;36(9):921-4.
2004: Collins Francis S
An audience with... Francis S. Collins [interview]
Nature reviews. Drug discovery 2004;3(8):640.
2004: Lipkin Steven M; Rozek Laura S; Rennert Gad; Yang Wei; Chen Peng-Chieh; Hacia Joseph; Hunt Nathan; Shin Brian; Fodor Steve; Kokoris Mark; Greenson Joel K; Fearon Eric; Lynch Henry; Collins Francis; Gruber Stephen B
The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer.
Nature genetics 2004;36(7):694-9.
2004: Goldman Robert D; Shumaker Dale K; Erdos Michael R; Eriksson Maria; Goldman Anne E; Gordon Leslie B; Gruenbaum Yosef; Khuon Satya; Mendez Melissa; Varga Renée; Collins Francis S
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(24):8963-8.
2004: Collins Francis S
The case for a US prospective cohort study of genes and environment.
Nature 2004;429(6990):475-7.
2004: Agarwal Sunita K; Lee Burns A; Sukhodolets Karen E; Kennedy Patricia A; Obungu Victor H; Hickman Alison B; Mullendore Michael E; Whitten Ira; Skarulis Monica C; Simonds William F; Mateo Carmen; Crabtree Judy S; Scacheri Peter C; Ji Youngmi; Novotny Elizabeth A; Garrett-Beal Lisa; Ward Jerrold M; Libutti Steven K; Richard Alexander H; Cerrato Aniello; Parisi Michael J; Santa Anna-A Sonia; Oliver Brian; Chandrasekharappa Settara C; Collins Francis S; Spiegel Allen M; Marx Stephen J
Molecular pathology of the MEN1 gene.
Annals of the New York Academy of Sciences 2004;1014():189-98.
2004: Gibbs Richard A; Weinstock George M; Metzker Michael L; Muzny Donna M; Sodergren Erica J; Scherer Steven; Scott Graham; Steffen David; Worley Kim C; Burch Paula E; Okwuonu Geoffrey; Hines Sandra; Lewis Lora; DeRamo Christine; Delgado Oliver; Dugan-Rocha Shannon; Miner George; Morgan Margaret; Hawes Alicia; Gill Rachel; Celera; Holt Robert A; Adams Mark D; Amanatides Peter G; Baden-Tillson Holly; Barnstead Mary; Chin Soo; Evans Cheryl A; Ferriera Steve; Fosler Carl; Glodek Anna; Gu Zhiping; Jennings Don; Kraft Cheryl L; Nguyen Trixie; Pfannkoch Cynthia M; Sitter Cynthia; Sutton Granger G; Venter J Craig; Woodage Trevor; Smith Douglas; Lee Hong-Mei; Gustafson Erik; Cahill Patrick; Kana Arnold; Doucette-Stamm Lynn; Weinstock Keith; Fechtel Kim; Weiss Robert B; Dunn Diane M; Green Eric D; Blakesley Robert W; Bouffard Gerard G; De Jong Pieter J; Osoegawa Kazutoyo; Zhu Baoli; Marra Marco; Schein Jacqueline; Bosdet Ian; Fjell Chris; Jones Steven; Krzywinski Martin; Mathewson Carrie; Siddiqui Asim; Wye Natasja; McPherson John; Zhao Shaying; Fraser Claire M; Shetty Jyoti; Shatsman Sofiya; Geer Keita; Chen Yixin; Abramzon Sofyia; Nierman William C; Havlak Paul H; Chen Rui; Durbin K James; Egan Amy; Ren Yanru; Song Xing-Zhi; Li Bingshan; Liu Yue; Qin Xiang; Cawley Simon; Worley Kim C; Cooney A J; D'Souza Lisa M; Martin Kirt; Wu Jia Qian; Gonzalez-Garay Manuel L; Jackson Andrew R; Kalafus Kenneth J; McLeod Michael P; Milosavljevic Aleksandar; Virk Davinder; Volkov Andrei; Wheeler David A; Zhang Zhengdong; Bailey Jeffrey A; Eichler Evan E; Tuzun Eray; Birney Ewan; Mongin Emmanuel; Ureta-Vidal Abel; Woodwark Cara; Zdobnov Evgeny; Bork Peer; Suyama Mikita; Torrents David; Alexandersson Marina; Trask Barbara J; Young Janet M; Huang Hui; Wang Huajun; Xing Heming; Daniels Sue; Gietzen Darryl; Schmidt Jeanette; Stevens Kristian; Vitt Ursula; Wingrove Jim; Camara Francisco; Mar Albà M; Abril Josep F; Guigo Roderic; Smit Arian; Dubchak Inna; Rubin Edward M; Couronne Olivier; Poliakov Alexander; Hübner Norbert; Ganten Detlev; Goesele Claudia; Hummel Oliver; Kreitler Thomas; Lee Young-Ae; Monti Jan; Schulz Herbert; Zimdahl Heike; Himmelbauer Heinz; Lehrach Hans; Jacob Howard J; Bromberg Susan; Gullings-Handley Jo; Jensen-Seaman Michael I; Kwitek Anne E; Lazar Jozef; Pasko Dean; Tonellato Peter J; Twigger Simon; Ponting Chris P; Duarte Jose M; Rice Stephen; Goodstadt Leo; Beatson Scott A; Emes Richard D; Winter Eitan E; Webber Caleb; Brandt Petra; Nyakatura Gerald; Adetobi Margaret; Chiaromonte Francesca; Elnitski Laura; Eswara Pallavi; Hardison Ross C; Hou Minmei; Kolbe Diana; Makova Kateryna; Miller Webb; Nekrutenko Anton; Riemer Cathy; Schwartz Scott; Taylor James; Yang Shan; Zhang Yi; Lindpaintner Klaus; Andrews T Dan; Caccamo Mario; Clamp Michele; Clarke Laura; Curwen Valerie; Durbin Richard; Eyras Eduardo; Searle Stephen M; Cooper Gregory M; Batzoglou Serafim; Brudno Michael; Sidow Arend; Stone Eric A; Venter J Craig; Payseur Bret A; Bourque Guillaume; López-Otín Carlos; Puente Xose S; Chakrabarti Kushal; Chatterji Sourav; Dewey Colin; Pachter Lior; Bray Nicolas; Yap Von Bing; Caspi Anat; Tesler Glenn; Pevzner Pavel A; Haussler David; Roskin Krishna M; Baertsch Robert; Clawson Hiram; Furey Terrence S; Hinrichs Angie S; Karolchik Donna; Kent William J; Rosenbloom Kate R; Trumbower Heather; Weirauch Matt; Cooper David N; Stenson Peter D; Ma Bin; Brent Michael; Arumugam Manimozhiyan; Shteynberg David; Copley Richard R; Taylor Martin S; Riethman Harold; Mudunuri Uma; Peterson Jane; Guyer Mark; Felsenfeld Adam; Old Susan; Mockrin Stephen; Collins Francis;
Genome sequence of the Brown Norway rat yields insights into mammalian evolution.
Nature 2004;428(6982):493-521.
2004: Silander Kaisa; Mohlke Karen L; Scott Laura J; Peck Erin C; Hollstein Pablo; Skol Andrew D; Jackson Anne U; Deloukas Panagiotis; Hunt Sarah; Stavrides George; Chines Peter S; Erdos Michael R; Narisu Narisu; Conneely Karen N; Li Chun; Fingerlin Tasha E; Dhanjal Sharanjeet K; Valle Timo T; Bergman Richard N; Tuomilehto Jaakko; Watanabe Richard M; Boehnke Michael; Collins Francis S
Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes.
Diabetes 2004;53(4):1141-9.
2004: Rotimi Charles N; Chen Guanjie; Adeyemo Adebowale A; Furbert-Harris Paulette; Parish-Gause Debra; Zhou Jie; Berg Kate; Adegoke Olufemi; Amoah Albert; Owusu Samuel; Acheampong Joseph; Agyenim-Boateng Kofi; Eghan Benjamin A; Oli Johnnie; Okafor Godfrey; Ofoegbu Ester; Osotimehin Babatunde; Abbiyesuku Fayeofori; Johnson Thomas; Rufus Theresa; Fasanmade Olufemi; Kittles Rick; Daniel Harold; Chen Yuanxiu; Dunston Georgia; Collins Francis S;
A genome-wide search for type 2 diabetes susceptibility genes in West Africans: the Africa America Diabetes Mellitus (AADM) Study.
Diabetes 2004;53(3):838-41.
2004: Silander Kaisa; Scott Laura J; Valle Timo T; Mohlke Karen L; Stringham Heather M; Wiles Kerry R; Duren William L; Doheny Kimberly F; Pugh Elizabeth W; Chines Peter; Narisu Narisu; White Peggy P; Fingerlin Tasha E; Jackson Anne U; Li Chun; Ghosh Soumitra; Magnuson Victoria L; Colby Kimberly; Erdos Michael R; Hill Jason E; Hollstein Pablo; Humphreys Kathleen M; Kasad Roshni A; Lambert Jessica; Lazaridis Konstantinos N; Lin George; Morales-Mena Anabelle; Patzkowski Kristin; Pfahl Carrie; Porter Rachel; Rha David; Segal Leonid; Suh Yong D; Tovar Jason; Unni Arun; Welch Christian; Douglas Julie A; Epstein Michael P; Hauser Elizabeth R; Hagopian William; Buchanan Thomas A; Watanabe Richard M; Bergman Richard N; Tuomilehto Jaakko; Collins Francis S; Boehnke Michael
A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14.
Diabetes 2004;53(3):821-9.
2004: Scacheri Peter C; Rozenblatt-Rosen Orit; Caplen Natasha J; Wolfsberg Tyra G; Umayam Lowell; Lee Jeffrey C; Hughes Christina M; Shanmugam Kalai Selvi; Bhattacharjee Arindam; Meyerson Matthew; Collins Francis S
Short interfering RNAs can induce unexpected and divergent changes in the levels of untargeted proteins in mammalian cells.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(7):1892-7.
2004: Crawford Gregory E; Holt Ingeborg E; Mullikin James C; Tai Denise; Blakesley Robert; Bouffard Gerard; Young Alice; Masiello Catherine; Green Eric D; Wolfsberg Tyra G; Collins Francis S;
Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(4):992-7.
2004: Ahaghotu C; Baffoe-Bonnie A; Kittles R; Pettaway C; Powell I; Royal C; Wang H; Vijayakumar S; Bennett J; Hoke G; Mason T; Bailey-Wilson J; Boykin W; Berg K; Carpten J; Weinrich S; Trent J; Dunston G; Collins F
Clinical characteristics of African-American men with hereditary prostate cancer: the AAHPC Study.
Prostate cancer and prostatic diseases 2004;7(2):165-9.
2003: Libutti Steven K; Crabtree Judy S; Lorang Dominique; Burns A Lee; Mazzanti Chiara; Hewitt Stephen M; O'Connor Sarah; Ward Jerrold M; Emmert-Buck Michael R; Remaley Alan; Miller Marshall; Turner Ewa; Alexander H Richard; Arnold Andrew; Marx Stephen J; Collins Francis S; Spiegel Allen M
Parathyroid gland-specific deletion of the mouse Men1 gene results in parathyroid neoplasia and hypercalcemic hyperparathyroidism.
Cancer research 2003;63(22):8022-8.
2003: Collins Francis S; Watson James D
Genetic discrimination: time to act.
Science (New York, N.Y.) 2003;302(5646):745.
2003: Baxevanis Andreas D; Collins Francis S
Power to the people. A User's Guide to the Human Genome. Foreward.
Nature genetics 2003;35 Suppl 1():2.
2003: Agarwal Sunita K; Novotny Elizabeth A; Crabtree Judy S; Weitzman Jonathan B; Yaniv Moshe; Burns A Lee; Chandrasekharappa Settara C; Collins Francis S; Spiegel Allen M; Marx Stephen J
Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(19):10770-5.
2003: Guttmacher Alan E; Collins Francis S
Welcome to the genomic era.
The New England journal of medicine 2003;349(10):996-8.
2003: Crabtree Judy S; Scacheri Peter C; Ward Jerrold M; McNally Sara R; Swain Gary P; Montagna Cristina; Hager Jeffrey H; Hanahan Douglas; Edlund Helena; Magnuson Mark A; Garrett-Beal Lisa; Burns A Lee; Ried Thomas; Chandrasekharappa Settara C; Marx Stephen J; Spiegel Allen M; Collins Francis S
Of mice and MEN1: Insulinomas in a conditional mouse knockout.
Molecular and cellular biology 2003;23(17):6075-85.
2003: Eriksson Maria; Brown W Ted; Gordon Leslie B; Glynn Michael W; Singer Joel; Scott Laura; Erdos Michael R; Robbins Christiane M; Moses Tracy Y; Berglund Peter; Dutra Amalia; Pak Evgenia; Durkin Sandra; Csoka Antonei B; Boehnke Michael; Glover Thomas W; Collins Francis S
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Nature 2003;423(6937):293-8.
2003: Patenaude Andrea Farkas; Guttmacher Alan E; Collins Francis S
Psychologists' contributions to the genetic revolution.
The American psychologist 2003;58(4):319-20.
2003: Fang Nicole Y; Greiner Timothy C; Weisenburger Dennis D; Chan Wing C; Vose Julie M; Smith Lynette M; Armitage James O; Mayer R Aeryn; Pike Brian L; Collins Francis S; Hacia Joseph G
Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(9):5372-7.
2003: Collins Francis S; Green Eric D; Guttmacher Alan E; Guyer Mark S;
A vision for the future of genomics research.
Nature 2003;422(6934):835-47.
2003: Collins Francis S; Morgan Michael; Patrinos Aristides
The Human Genome Project: lessons from large-scale biology.
Science (New York, N.Y.) 2003;300(5617):286-90.
2003: Insel Thomas R; Collins Francis S
Psychiatry in the genomics era.
The American journal of psychiatry 2003;160(4):616-20.
2003: Grady Patricia A; Collins Francis S
Genetics and nursing science: realizing the potential.
Nursing research 2003;52(2):69.
2003: Collins Francis S
An interview with Francis S. Collins, M.D., Ph.D. Director, National Human Genome Research Institute.
Assay and drug development technologies 2003;1(1 Pt 2):119-25.
2003: Sukhodolets Karen E; Hickman Alison B; Agarwal Sunita K; Sukhodolets Maxim V; Obungu Victor H; Novotny Elizabeth A; Crabtree Judy S; Chandrasekharappa Settara C; Collins Francis S; Spiegel Allen M; Burns A Lee; Marx Stephen J
The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene.
Molecular and cellular biology 2003;23(2):493-509.
2003: Urbanek Margrit; Du Yangzhu; Silander Kaisa; Collins Francis S; Steppan Claire M; Strauss Jerome F; Dunaif Andrea; Spielman Richard S; Legro Richard S
Variation in resistin gene promoter not associated with polycystic ovary syndrome.
Diabetes 2003;52(1):214-7.
2003: Olopade Olufunmilayo I; Fackenthal James D; Dunston Georgia; Tainsky Michael A; Collins Francis; Whitfield-Broome Carolyn
Breast cancer genetics in African Americans.
Cancer 2003;97(1 Suppl):236-45.
2003: Collins F S
Genome research: the next generation.
Cold Spring Harbor symposia on quantitative biology 2003;68():49-54.
2003: Rotimi Charles; Daniel Harold; Zhou Jie; Obisesan Augustine; Chen Guanjie; Chen Yuanxiu; Amoah Albert; Opoku Victoria; Acheampong Joseph; Agyenim-Boateng Kofi; Eghan Benjamin Ackon; Oli Johnnie; Okafor Godfrey; Ofoegbu Ester; Osotimehin Babatunde; Abbiyesuku Fayeofori; Johnson Thomas; Fasanmade Olufemi; Doumatey Ayo; Aje Temilolu; Collins Francis; Dunston Georgia
Prevalence and determinants of diabetic retinopathy and cataracts in West African type 2 diabetes patients.
Ethnicity & disease 2003;13(2 Suppl 2):S110-7.
2002: Mohlke Karen L; Erdos Michael R; Scott Laura J; Fingerlin Tasha E; Jackson Anne U; Silander Kaisa; Hollstein Pablo; Boehnke Michael; Collins Francis S
High-throughput screening for evidence of association by using mass spectrometry genotyping on DNA pools.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(26):16928-33.
2002: Strausberg Robert L; Feingold Elise A; Grouse Lynette H; Derge Jeffery G; Klausner Richard D; Collins Francis S; Wagner Lukas; Shenmen Carolyn M; Schuler Gregory D; Altschul Stephen F; Zeeberg Barry; Buetow Kenneth H; Schaefer Carl F; Bhat Narayan K; Hopkins Ralph F; Jordan Heather; Moore Troy; Max Steve I; Wang Jun; Hsieh Florence; Diatchenko Luda; Marusina Kate; Farmer Andrew A; Rubin Gerald M; Hong Ling; Stapleton Mark; Soares M Bento; Bonaldo Maria F; Casavant Tom L; Scheetz Todd E; Brownstein Michael J; Usdin Ted B; Toshiyuki Shiraki; Carninci Piero; Prange Christa; Raha Sam S; Loquellano Naomi A; Peters Garrick J; Abramson Rick D; Mullahy Sara J; Bosak Stephanie A; McEwan Paul J; McKernan Kevin J; Malek Joel A; Gunaratne Preethi H; Richards Stephen; Worley Kim C; Hale Sarah; Garcia Angela M; Gay Laura J; Hulyk Stephen W; Villalon Debbie K; Muzny Donna M; Sodergren Erica J; Lu Xiuhua; Gibbs Richard A; Fahey Jessica; Helton Erin; Ketteman Mark; Madan Anuradha; Rodrigues Stephanie; Sanchez Amy; Whiting Michelle; Madan Anup; Young Alice C; Shevchenko Yuriy; Bouffard Gerard G; Blakesley Robert W; Touchman Jeffrey W; Green Eric D; Dickson Mark C; Rodriguez Alex C; Grimwood Jane; Schmutz Jeremy; Myers Richard M; Butterfield Yaron S N; Krzywinski Martin I; Skalska Ursula; Smailus Duane E; Schnerch Angelique; Schein Jacqueline E; Jones Steven J M; Marra Marco A;
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(26):16899-903.
2002: Waterston Robert H; Lindblad-Toh Kerstin; Birney Ewan; Rogers Jane; Abril Josep F; Agarwal Pankaj; Agarwala Richa; Ainscough Rachel; Alexandersson Marina; An Peter; Antonarakis Stylianos E; Attwood John; Baertsch Robert; Bailey Jonathon; Barlow Karen; Beck Stephan; Berry Eric; Birren Bruce; Bloom Toby; Bork Peer; Botcherby Marc; Bray Nicolas; Brent Michael R; Brown Daniel G; Brown Stephen D; Bult Carol; Burton John; Butler Jonathan; Campbell Robert D; Carninci Piero; Cawley Simon; Chiaromonte Francesca; Chinwalla Asif T; Church Deanna M; Clamp Michele; Clee Christopher; Collins Francis S; Cook Lisa L; Copley Richard R; Coulson Alan; Couronne Olivier; Cuff James; Curwen Val; Cutts Tim; Daly Mark; David Robert; Davies Joy; Delehaunty Kimberly D; Deri Justin; Dermitzakis Emmanouil T; Dewey Colin; Dickens Nicholas J; Diekhans Mark; Dodge Sheila; Dubchak Inna; Dunn Diane M; Eddy Sean R; Elnitski Laura; Emes Richard D; Eswara Pallavi; Eyras Eduardo; Felsenfeld Adam; Fewell Ginger A; Flicek Paul; Foley Karen; Frankel Wayne N; Fulton Lucinda A; Fulton Robert S; Furey Terrence S; Gage Diane; Gibbs Richard A; Glusman Gustavo; Gnerre Sante; Goldman Nick; Goodstadt Leo; Grafham Darren; Graves Tina A; Green Eric D; Gregory Simon; Guigó Roderic; Guyer Mark; Hardison Ross C; Haussler David; Hayashizaki Yoshihide; Hillier LaDeana W; Hinrichs Angela; Hlavina Wratko; Holzer Timothy; Hsu Fan; Hua Axin; Hubbard Tim; Hunt Adrienne; Jackson Ian; Jaffe David B; Johnson L Steven; Jones Matthew; Jones Thomas A; Joy Ann; Kamal Michael; Karlsson Elinor K; Karolchik Donna; Kasprzyk Arkadiusz; Kawai Jun; Keibler Evan; Kells Cristyn; Kent W James; Kirby Andrew; Kolbe Diana L; Korf Ian; Kucherlapati Raju S; Kulbokas Edward J; Kulp David; Landers Tom; Leger J P; Leonard Steven; Letunic Ivica; Levine Rosie; Li Jia; Li Ming; Lloyd Christine; Lucas Susan; Ma Bin; Maglott Donna R; Mardis Elaine R; Matthews Lucy; Mauceli Evan; Mayer John H; McCarthy Megan; McCombie W Richard; McLaren Stuart; McLay Kirsten; McPherson John D; Meldrim Jim; Meredith Beverley; Mesirov Jill P; Miller Webb; Miner Tracie L; Mongin Emmanuel; Montgomery Kate T; Morgan Michael; Mott Richard; Mullikin James C; Muzny Donna M; Nash William E; Nelson Joanne O; Nhan Michael N; Nicol Robert; Ning Zemin; Nusbaum Chad; O'Connor Michael J; Okazaki Yasushi; Oliver Karen; Overton-Larty Emma; Pachter Lior; Parra Genís; Pepin Kymberlie H; Peterson Jane; Pevzner Pavel; Plumb Robert; Pohl Craig S; Poliakov Alex; Ponce Tracy C; Ponting Chris P; Potter Simon; Quail Michael; Reymond Alexandre; Roe Bruce A; Roskin Krishna M; Rubin Edward M; Rust Alistair G; Santos Ralph; Sapojnikov Victor; Schultz Brian; Schultz Jörg; Schwartz Matthias S; Schwartz Scott; Scott Carol; Seaman Steven; Searle Steve; Sharpe Ted; Sheridan Andrew; Shownkeen Ratna; Sims Sarah; Singer Jonathan B; Slater Guy; Smit Arian; Smith Douglas R; Spencer Brian; Stabenau Arne; Stange-Thomann Nicole; Sugnet Charles; Suyama Mikita; Tesler Glenn; Thompson Johanna; Torrents David; Trevaskis Evanne; Tromp John; Ucla Catherine; Ureta-Vidal Abel; Vinson Jade P; Von Niederhausern Andrew C; Wade Claire M; Wall Melanie; Weber Ryan J; Weiss Robert B; Wendl Michael C; West Anthony P; Wetterstrand Kris; Wheeler Raymond; Whelan Simon; Wierzbowski Jamey; Willey David; Williams Sophie; Wilson Richard K; Winter Eitan; Worley Kim C; Wyman Dudley; Yang Shan; Yang Shiaw-Pyng; Zdobnov Evgeny M; Zody Michael C; Lander Eric S
Initial sequencing and comparative analysis of the mouse genome.
Nature 2002;420(6915):520-62.
2002: Guttmacher Alan E; Collins Francis S
Genomic medicine--a primer.
The New England journal of medicine 2002;347(19):1512-20.
2002: Marx Stephen J; Simonds William F; Agarwal Sunita K; Burns A Lee; Weinstein Lee S; Cochran Craig; Skarulis Monica C; Spiegel Allen M; Libutti Steven K; Alexander H Richard; Chen Clara C; Chang Richard; Chandrasekharappa Settara C; Collins Francis S
Hyperparathyroidism in hereditary syndromes: special expressions and special managements.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2002;17 Suppl 2():N37-43.
2002: Wolfsberg Tyra G; Wetterstrand Kris A; Guyer Mark S; Collins Francis S; Baxevanis Andreas D
A user's guide to the human genome.
Nature genetics 2002;32 Suppl():1-79.
2002: Mykytyn Kirk; Nishimura Darryl Y; Searby Charles C; Shastri Mythreyi; Yen Hsan-jan; Beck John S; Braun Terry; Streb Luan M; Cornier Alberto S; Cox Gerald F; Fulton Anne B; Carmi Rivka; Lüleci Güven; Chandrasekharappa Settara C; Collins Francis S; Jacobson Samuel G; Heckenlively John R; Weleber Richard G; Stone Edwin M; Sheffield Val C
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Nature genetics 2002;31(4):435-8.
2002: Lipkin Steven M; Moens Peter B; Wang Victoria; Lenzi Michelle; Shanmugarajah Dakshine; Gilgeous Abigail; Thomas James; Cheng Jun; Touchman Jeffrey W; Green Eric D; Schwartzberg Pam; Collins Francis S; Cohen Paula E
Meiotic arrest and aneuploidy in MLH3-deficient mice.
Nature genetics 2002;31(4):385-90.
2002: Fingerlin Tasha E; Erdos Michael R; Watanabe Richard M; Wiles Kerry R; Stringham Heather M; Mohlke Karen L; Silander Kaisa; Valle Timo T; Buchanan Thomas A; Tuomilehto Jaakko; Bergman Richard N; Boehnke Michael; Collins Francis S
Variation in three single nucleotide polymorphisms in the calpain-10 gene not associated with type 2 diabetes in a large Finnish cohort.
Diabetes 2002;51(5):1644-8.
2002: Patenaude Andrea Farkas; Guttmacher Alan E; Collins Francis S
Genetic testing and psychology. New roles, new responsibilities.
The American psychologist 2002;57(4):271-82.
2001: Powell I J; Carpten J; Dunston G; Kittles R; Bennett J; Hoke G; Pettaway C; Weinrich S; Vijayakumar S; Ahaghotu C A; Boykin W; Mason T; Royal C; Baffoe-Bonnie A; Bailey-Wilson J; Berg K; Trent J; Collins F
African-American heredity prostate cancer study: a model for genetic research.
Journal of the National Medical Association 2001;93(12 Suppl):25S-28S.
2001: Collins F S; Guttmacher A E
Genetics moves into the medical mainstream.
JAMA : the journal of the American Medical Association 2001;286(18):2322-4.
2001: Scacheri P C; Crabtree J S; Novotny E A; Garrett-Beal L; Chen A; Edgemon K A; Marx S J; Spiegel A M; Chandrasekharappa S C; Collins F S
Bidirectional transcriptional activity of PGK-neomycin and unexpected embryonic lethality in heterozygote chimeric knockout mice.
Genesis (New York, N.Y. : 2000) 2001;30(4):259-63.
2001: Heppner C; Bilimoria K Y; Agarwal S K; Kester M; Whitty L J; Guru S C; Chandrasekharappa S C; Collins F S; Spiegel A M; Marx S J; Burns A L
The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation.
Oncogene 2001;20(36):4917-25.
2001: Mohlke K L; Lange E M; Valle T T; Ghosh S; Magnuson V L; Silander K; Watanabe R M; Chines P S; Bergman R N; Tuomilehto J; Collins F S; Boehnke M
Linkage disequilibrium between microsatellite markers extends beyond 1 cM on chromosome 20 in Finns.
Genome research 2001;11(7):1221-6.
2001: Collins F S
Contemplating the end of the beginning.
Genome research 2001;11(5):641-3.
2001: Lipkin S M; Wang V; Stoler D L; Anderson G R; Kirsch I; Hadley D; Lynch H T; Collins F S
Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers.
Human mutation 2001;17(5):389-96.
2001: Powell I J; Carpten J; Dunston G; Kittles R; Bennett J; Hoke G; Pettaway C; Weinrich S; Vijayakumar S; Ahaghotu C A; Boykin W; Mason T; Royal C; Baffoe-Bonnie A; Bailey-Wilson J; Berg K; Trent J; Collins F
African-American heredity prostate cancer study: a model for genetic research.
Journal of the National Medical Association 2001;93(4):120-3.
2001: Douglas J A; Erdos M R; Watanabe R M; Braun A; Johnston C L; Oeth P; Mohlke K L; Valle T T; Ehnholm C; Buchanan T A; Bergman R N; Collins F S; Boehnke M; Tuomilehto J
The peroxisome proliferator-activated receptor-gamma2 Pro12A1a variant: association with type 2 diabetes and trait differences.
Diabetes 2001;50(4):886-90.
2001: Collins F S; McKusick V A
Implications of the Human Genome Project for medical science.
JAMA : the journal of the American Medical Association 2001;285(5):540-4.
2001: Guru S C; Prasad N B; Shin E J; Hemavathy K; Lu J; Ip Y T; Agarwal S K; Marx S J; Spiegel A M; Collins F S; Oliver B; Chandrasekharappa S C
Characterization of a MEN1 ortholog from Drosophila melanogaster.
Gene 2001;263(1-2):31-8.
2001: Rotimi C N; Dunston G M; Berg K; Akinsete O; Amoah A; Owusu S; Acheampong J; Boateng K; Oli J; Okafor G; Onyenekwe B; Osotimehin B; Abbiyesuku F; Johnson T; Fasanmade O; Furbert-Harris P; Kittles R; Vekich M; Adegoke O; Bonney G; Collins F
In search of susceptibility genes for type 2 diabetes in West Africa: the design and results of the first phase of the AADM study.
Annals of epidemiology 2001;11(1):51-8.
2001: Crabtree J S; Scacheri P C; Ward J M; Garrett-Beal L; Emmert-Buck M R; Edgemon K A; Lorang D; Libutti S K; Chandrasekharappa S C; Marx S J; Spiegel A M; Collins F S
A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(3):1118-23.
2001: Collins F S; Mansoura M K
The Human Genome Project. Revealing the shared inheritance of all humankind.
Cancer 2001;91(1 Suppl):221-5.
2000: Royal C; Baffoe-Bonnie A; Kittles R; Powell I; Bennett J; Hoke G; Pettaway C; Weinrich S; Vijayakumar S; Ahaghotu C; Mason T; Johnson E; Obeikwe M; Simpson C; Mejia R; Boykin W; Roberson P; Frost J; Faison-Smith L; Meegan C; Foster N; Furbert-Harris P; Carpten J; Bailey-Wilson J; Trent J; Berg K; Dunston G; Collins F
Recruitment experience in the first phase of the African American Hereditary Prostate Cancer (AAHPC) study.
Annals of epidemiology 2000;10(8 Suppl):S68-77.
2000: Hacia J G; Edgemon K; Fang N; Mayer R A; Sudano D; Hunt N; Collins F S
Oligonucleotide microarray based detection of repetitive sequence changes.
Human mutation 2000;16(4):354-63.
2000: Knapp J I; Heppner C; Hickman A B; Burns A L; Chandrasekharappa S C; Collins F S; Marx S J; Spiegel A M; Agarwal S K
Identification and characterization of JunD missense mutants that lack menin binding.
Oncogene 2000;19(41):4706-12.
2000: Collins F S; Haseltine W A
Of genes and genomes: what lies between the base pairs.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2000;48(5):295-301.
2000: Karanjawala Z E; Kääriäinen H; Ghosh S; Tannenbaum J; Martin C; Ally D; Tuomilehto J; Valle T; Collins F S
Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor.
American journal of medical genetics 2000;93(3):207-10.
2000: Manickam P; Vogel A M; Agarwal S K; Oda T; Spiegel A M; Marx S J; Collins F S; Weinstein B M; Chandrasekharappa S C
Isolation, characterization, expression and functional analysis of the zebrafish ortholog of MEN1.
Mammalian genome : official journal of the International Mammalian Genome Society 2000;11(6):448-54.
2000: Debelenko L V; Swalwell J I; Kelley M J; Brambilla E; Manickam P; Baibakov G; Agarwal S K; Spiegel A M; Marx S J; Chandrasekharappa S C; Collins F S; Travis W D; Emmert-Buck M R
MEN1 gene mutation analysis of high-grade neuroendocrine lung carcinoma.
Genes, chromosomes & cancer 2000;28(1):58-65.
2000: Lipkin S M; Wang V; Jacoby R; Banerjee-Basu S; Baxevanis A D; Lynch H T; Elliott R M; Collins F S
MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability.
Nature genetics 2000;24(1):27-35.
1999: Collins F S; Jegalian K G
Deciphering the code of life.
Scientific American 1999;281(6):86-91.
1999: Kim Y S; Burns A L; Goldsmith P K; Heppner C; Park S Y; Chandrasekharappa S C; Collins F S; Spiegel A M; Marx S J
Stable overexpression of MEN1 suppresses tumorigenicity of RAS.
Oncogene 1999;18(43):5936-42.
1999: Hacia J G; Collins F S
Mutational analysis using oligonucleotide microarrays.
Journal of medical genetics 1999;36(10):730-6.
1999: Strausberg R L; Feingold E A; Klausner R D; Collins F S
The mammalian gene collection.
Science (New York, N.Y.) 1999;286(5439):455-7.
1999: Hacia J G; Novotny E A; Mayer R A; Woski S A; Ashlock M A; Collins F S
Design of modified oligodeoxyribonucleotide probes to detect telomere repeat sequences in FISH assays.
Nucleic acids research 1999;27(20):4034-9.
1999: Marx S J; Agarwal S K; Heppner C; Kim Y S; Kester M B; Goldsmith P K; Skarulis M C; Spiegel A M; Burns A L; Debelenko L V; Zhuang Z; Lubensky I A; Liotta L A; Emmert-Buck M R; Guru S C; Manickam P; Crabtree J S; Collins F S; Chandrasekharappa S C
The gene for multiple endocrine neoplasia type 1: recent findings.
Bone 1999;25(1):119-22.
1999: Collins F S
Shattuck lecture--medical and societal consequences of the Human Genome Project.
The New England journal of medicine 1999;341(1):28-37.
1999: Collins F S
The human genome project and the future of medicine.
Annals of the New York Academy of Sciences 1999;882():42-55; discussion 56-65.
1999: Hacia J G; Fan J B; Ryder O; Jin L; Edgemon K; Ghandour G; Mayer R A; Sun B; Hsie L; Robbins C M; Brody L C; Wang D; Lander E S; Lipshutz R; Fodor S P; Collins F S
Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays.
Nature genetics 1999;22(2):164-7.
1999: Watanabe R M; Valle T; Hauser E R; Ghosh S; Eriksson J; Kohtamäki K; Ehnholm C; Tuomilehto J; Collins F S; Bergman R N; Boehnke M
Familiality of quantitative metabolic traits in Finnish families with non-insulin-dependent diabetes mellitus. Finland-United States Investigation of NIDDM Genetics (FUSION) Study investigators.
Human heredity 1999;49(3):159-68.
1999: Guru S C; Crabtree J S; Brown K D; Dunn K J; Manickam P; Prasad N B; Wangsa D; Burns A L; Spiegel A M; Marx S J; Pavan W J; Collins F S; Chandrasekharappa S C
Isolation, genomic organization, and expression analysis of Men1, the murine homolog of the MEN1 gene.
Mammalian genome : official journal of the International Mammalian Genome Society 1999;10(6):592-6.
1999: Ghosh S; Watanabe R M; Hauser E R; Valle T; Magnuson V L; Erdos M R; Langefeld C D; Balow J; Ally D S; Kohtamaki K; Chines P; Birznieks G; Kaleta H S; Musick A; Te C; Tannenbaum J; Eldridge W; Shapiro S; Martin C; Witt A; So A; Chang J; Shurtleff B; Porter R; Kudelko K; Unni A; Segal L; Sharaf R; Blaschak-Harvan J; Eriksson J; Tenkula T; Vidgren G; Ehnholm C; Tuomilehto-Wolf E; Hagopian W; Buchanan T A; Tuomilehto J; Bergman R N; Collins F S; Boehnke M
Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(5):2198-203.
1999: Ghosh S; Langefeld C D; Ally D; Watanabe R M; Hauser E R; Magnuson V L; Nylund S J; Valle T; Eriksson J; Bergman R N; Tuomilehto J; Collins F S; Boehnke M
The W64R variant of the beta3-adrenergic receptor is not associated with type II diabetes or obesity in a large Finnish sample.
Diabetologia 1999;42(2):238-44.
1999: Agarwal S K; Guru S C; Heppner C; Erdos M R; Collins R M; Park S Y; Saggar S; Chandrasekharappa S C; Collins F S; Spiegel A M; Marx S J; Burns A L
Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.
Cell 1999;96(1):143-52.
1999: Collins F S
Genetics: an explosion of knowledge is transforming clinical practice.
Geriatrics 1999;54(1):41-7; quiz 48.
1999: Collins F S; Bochm K
Avoiding casualties in the genetic revolution: the urgent need to educate physicians about genetics.
Academic medicine : journal of the Association of American Medical Colleges 1999;74(1):48-9.
1999: Marx S J; Agarwal S K; Kester M B; Heppner C; Kim Y S; Skarulis M C; James L A; Goldsmith P K; Saggar S K; Park S Y; Spiegel A M; Burns A L; Debelenko L V; Zhuang Z; Lubensky I A; Liotta L A; Emmert-Buck M R; Guru S C; Manickam P; Crabtree J; Erdos M R; Collins F S; Chandrasekharappa S C
Multiple endocrine neoplasia type 1: clinical and genetic features of the hereditary endocrine neoplasias.
Recent progress in hormone research 1999;54():397-438; discussion 438-9.
1998: Hacia J G; Sun B; Hunt N; Edgemon K; Mosbrook D; Robbins C; Fodor S P; Tagle D A; Collins F S
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
Genome research 1998;8(12):1245-58.
1998: Collins F S; Brooks L D; Chakravarti A
A DNA polymorphism discovery resource for research on human genetic variation.
Genome research 1998;8(12):1229-31.
1998: Hacia J G; Brody L C; Collins F S
Applications of DNA chips for genomic analysis.
Molecular psychiatry 1998;3(6):483-92.
1998: Centola M; Chen X; Sood R; Deng Z; Aksentijevich I; Blake T; Ricke D O; Chen X; Wood G; Zaks N; Richards N; Krizman D; Mansfield E; Apostolou S; Liu J; Shafran N; Vedula A; Hamon M; Cercek A; Kahan T; Gumucio D; Callen D F; Richards R I; Moyzis R K; Doggett N A; Collins F S; Liu P P; Fischel-Ghodsian N; Kastner D L
Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3.
Genome research 1998;8(11):1172-91.
1998: Karanjawala Z E; Collins F S
Genetics in the context of medical practice.
JAMA : the journal of the American Medical Association 1998;280(17):1533-4.
1998: Hacia J G; Woski S A; Fidanza J; Edgemon K; Hunt N; McGall G; Fodor S P; Collins F S
Enhanced high density oligonucleotide array-based sequence analysis using modified nucleoside triphosphates.
Nucleic acids research 1998;26(21):4975-82.
1998: Collins F S; Patrinos A; Jordan E; Chakravarti A; Gesteland R; Walters L
New goals for the U.S. Human Genome Project: 1998-2003.
Science (New York, N.Y.) 1998;282(5389):682-9.
1998: Xu J; Meyers D; Freije D; Isaacs S; Wiley K; Nusskern D; Ewing C; Wilkens E; Bujnovszky P; Bova G S; Walsh P; Isaacs W; Schleutker J; Matikainen M; Tammela T; Visakorpi T; Kallioniemi O P; Berry R; Schaid D; French A; McDonnell S; Schroeder J; Blute M; Thibodeau S; Grönberg H; Emanuelsson M; Damber J E; Bergh A; Jonsson B A; Smith J; Bailey-Wilson J; Carpten J; Stephan D; Gillanders E; Amundson I; Kainu T; Freas-Lutz D; Baffoe-Bonnie A; Van Aucken A; Sood R; Collins F; Brownstein M; Trent J
Evidence for a prostate cancer susceptibility locus on the X chromosome.
Nature genetics 1998;20(2):175-9.
1998: Marx S; Spiegel A M; Skarulis M C; Doppman J L; Collins F S; Liotta L A
Multiple endocrine neoplasia type 1: clinical and genetic topics.
Annals of internal medicine 1998;129(6):484-94.
1998: Hacia J G; Edgemon K; Sun B; Stern D; Fodor S P; Collins F S
Two color hybridization analysis using high density oligonucleotide arrays and energy transfer dyes.
Nucleic acids research 1998;26(16):3865-6.
1998: Burke W; Thomson E; Khoury M J; McDonnell S M; Press N; Adams P C; Barton J C; Beutler E; Brittenham G; Buchanan A; Clayton E W; Cogswell M E; Meslin E M; Motulsky A G; Powell L W; Sigal E; Wilfond B S; Collins F S
Hereditary hemochromatosis: gene discovery and its implications for population-based screening.
JAMA : the journal of the American Medical Association 1998;280(2):172-8.
1998: Marx S J; Agarwal S K; Kester M B; Heppner C; Kim Y S; Emmert-Buck M R; Debelenko L V; Lubensky I A; Zhuang Z; Guru S C; Manickam P; Olufemi S E; Skarulis M C; Doppman J L; Alexander R H; Liotta L A; Collins F S; Chandrasekharappa S C; Spiegel A M; Burns A L
Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1).
Journal of internal medicine 1998;243(6):447-53.
1998: Valle T; Tuomilehto J; Bergman R N; Ghosh S; Hauser E R; Eriksson J; Nylund S J; Kohtamäki K; Toivanen L; Vidgren G; Tuomilehto-Wolf E; Ehnholm C; Blaschak J; Langefeld C D; Watanabe R M; Magnuson V; Ally D S; Hagopian W A; Ross E; Buchanan T A; Collins F; Boehnke M
Mapping genes for NIDDM. Design of the Finland-United States Investigation of NIDDM Genetics (FUSION) Study.
Diabetes care 1998;21(6):949-58.
1998: Hacia J G; Brody L C; Collins F S
New approaches to BRCA1 mutation detection.
Breast disease 1998;10(1-2):45-59.
1998: Mansoura M K; Smith S S; Choi A D; Richards N W; Strong T V; Drumm M L; Collins F S; Dawson D C
Cystic fibrosis transmembrane conductance regulator (CFTR) anion binding as a probe of the pore.
Biophysical journal 1998;74(3):1320-32.
1998: Emmert-Buck M R; Debelenko L V; Agarwal S; Kester M B; Manickam P; Zhuang Z; Guru S C; Olufemi S E; Burns A L; Chandrasekharappa S C; Lubensky I A; Liotta L A; Skarulis M C; Spiegel A M; Marx S J; Collins F S
11q13 allelotype analysis in 27 northern American MEN1 kindreds identifies two distinct founder chromosomes.
Molecular genetics and metabolism 1998;63(2):151-5.
1998: Guru S C; Goldsmith P K; Burns A L; Marx S J; Spiegel A M; Collins F S; Chandrasekharappa S C
Menin, the product of the MEN1 gene, is a nuclear protein.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(4):1630-4.
1998: Hacia J G; Makalowski W; Edgemon K; Erdos M R; Robbins C M; Fodor S P; Brody L C; Collins F S
Evolutionary sequence comparisons using high-density oligonucleotide arrays.
Nature genetics 1998;18(2):155-8.
1998: Krkljus S; Abernathy C R; Johnson J S; Williams C A; Driscoll D J; Zori R; Stalker H J; Rasmussen S A; Collins F S; Kousseff B G; Baumbach L; Wallace M R
Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.
Human mutation 1998;11(5):411.
1998: Agarwal S K; Debelenko L V; Kester M B; Guru S C; Manickam P; Olufemi S E; Skarulis M C; Heppner C; Crabtree J S; Lubensky I A; Zhuang Z; Kim Y S; Chandrasekharappa S C; Collins F S; Liotta L A; Spiegel A M; Burns A L; Emmert-Buck M R; Marx S J
Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families.
Human mutation 1998;12(2):75-82.
1998: Olufemi S E; Green J S; Manickam P; Guru S C; Agarwal S K; Kester M B; Dong Q; Burns A L; Spiegel A M; Marx S J; Collins F S; Chandrasekharappa S C
Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland.
Human mutation 1998;11(4):264-9.
1997: Zhuang Z; Ezzat S Z; Vortmeyer A O; Weil R; Oldfield E H; Park W S; Pack S; Huang S; Agarwal S K; Guru S C; Manickam P; Debelenko L V; Kester M B; Olufemi S E; Heppner C; Crabtree J S; Burns A L; Spiegel A M; Marx S J; Chandrasekharappa S C; Collins F S; Emmert-Buck M R; Liotta L A; Asa S L; Lubensky I A
Mutations of the MEN1 tumor suppressor gene in pituitary tumors.
Cancer research 1997;57(24):5446-51.
1997: Debelenko L V; Brambilla E; Agarwal S K; Swalwell J I; Kester M B; Lubensky I A; Zhuang Z; Guru S C; Manickam P; Olufemi S E; Chandrasekharappa S C; Crabtree J S; Kim Y S; Heppner C; Burns A L; Spiegel A M; Marx S J; Liotta L A; Collins F S; Travis W D; Emmert-Buck M R
Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung.
Human molecular genetics 1997;6(13):2285-90.
1997: Collins F S; Guyer M S; Charkravarti A
Variations on a theme: cataloging human DNA sequence variation.
Science (New York, N.Y.) 1997;278(5343):1580-1.
1997: Manickam P; Guru S C; Debelenko L V; Agarwal S K; Olufemi S E; Weisemann J M; Boguski M S; Crabtree J S; Wang Y; Roe B A; Lubensky I A; Zhuang Z; Kester M B; Burns A L; Spiegel A M; Marx S J; Liotta L A; Emmert-Buck M R; Collins F S; Chandrasekharappa S C
Eighteen new polymorphic markers in the multiple endocrine neoplasia type 1 (MEN1) region.
Human genetics 1997;101(1):102-8.
1997: Grönberg H; Xu J; Smith J R; Carpten J D; Isaacs S D; Freije D; Bova G S; Danber J E; Bergh A; Walsh P C; Collins F S; Trent J M; Meyers D A; Isaacs W B
Early age at diagnosis in families providing evidence of linkage to the hereditary prostate cancer locus (HPC1) on chromosome 1.
Cancer research 1997;57(21):4707-9.
1997: Zhuang Z; Vortmeyer A O; Pack S; Huang S; Pham T A; Wang C; Park W S; Agarwal S K; Debelenko L V; Kester M; Guru S C; Manickam P; Olufemi S E; Yu F; Heppner C; Crabtree J S; Skarulis M C; Venzon D J; Emmert-Buck M R; Spiegel A M; Chandrasekharappa S C; Collins F S; Burns A L; Marx S J; Lubensky I A
Somatic mutations of the MEN1 tumor suppressor gene in sporadic gastrinomas and insulinomas.
Cancer research 1997;57(21):4682-6.
1997: Collins F S
Preparing health professionals for the genetic revolution.
JAMA : the journal of the American Medical Association 1997;278(15):1285-6.
1997: Grönberg H; Isaacs S D; Smith J R; Carpten J D; Bova G S; Freije D; Xu J; Meyers D A; Collins F S; Trent J M; Walsh P C; Isaacs W B
Characteristics of prostate cancer in families potentially linked to the hereditary prostate cancer 1 (HPC1) locus.
JAMA : the journal of the American Medical Association 1997;278(15):1251-5.
1997: Woodage T; Basrai M A; Baxevanis A D; Hieter P; Collins F S
Characterization of the CHD family of proteins.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(21):11472-7.
1997: Balow J E; Shelton D A; Orsborn A; Mangelsdorf M; Aksentijevich I; Blake T; Sood R; Gardner D; Liu R; Pras E; Levy E N; Centola M; Deng Z; Zaks N; Wood G; Chen X; Richards N; Shohat M; Livneh A; Pras M; Doggett N A; Collins F S; Liu P P; Rotter J I; Kastner D L
A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups.
Genomics 1997;44(3):280-91.
1997: Heppner C; Kester M B; Agarwal S K; Debelenko L V; Emmert-Buck M R; Guru S C; Manickam P; Olufemi S E; Skarulis M C; Doppman J L; Alexander R H; Kim Y S; Saggar S K; Lubensky I A; Zhuang Z; Liotta L A; Chandrasekharappa S C; Collins F S; Spiegel A M; Burns A L; Marx S J
Somatic mutation of the MEN1 gene in parathyroid tumours.
Nature genetics 1997;16(4):375-8.
1997: Kahn Mary Jo; Jamison Kay Redfield; Collins Francis S
Protecting our 'family secrets'
Washington post (Washington, D.C. : 1974) 1997;():A15.
1997: Guru S C; Agarwal S K; Manickam P; Olufemi S E; Crabtree J S; Weisemann J M; Kester M B; Kim Y S; Wang Y; Emmert-Buck M R; Liotta L A; Spiegel A M; Boguski M S; Roe B A; Collins F S; Marx S J; Burns L; Chandrasekharappa S C
A transcript map for the 2.8-Mb region containing the multiple endocrine neoplasia type 1 locus.
Genome research 1997;7(7):725-35.
1997: Wilkinson D J; Strong T V; Mansoura M K; Wood D L; Smith S S; Collins F S; Dawson D C
CFTR activation: additive effects of stimulatory and inhibitory phosphorylation sites in the R domain.
The American journal of physiology 1997;273(1 Pt 1):L127-33.
1997: Agarwal S K; Kester M B; Debelenko L V; Heppner C; Emmert-Buck M R; Skarulis M C; Doppman J L; Kim Y S; Lubensky I A; Zhuang Z; Green J S; Guru S C; Manickam P; Olufemi S E; Liotta L A; Chandrasekharappa S C; Collins F S; Spiegel A M; Burns A L; Marx S J
Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.
Human molecular genetics 1997;6(7):1169-75.
1997: Oda T; Elkahloun A G; Pike B L; Okajima K; Krantz I D; Genin A; Piccoli D A; Meltzer P S; Spinner N B; Collins F S; Chandrasekharappa S C
Mutations in the human Jagged1 gene are responsible for Alagille syndrome.
Nature genetics 1997;16(3):235-42.
1997: Guru S C; Olufemi S E; Manickam P; Cummings C; Gieser L M; Pike B L; Bittner M L; Jiang Y; Chinault A C; Nowak N J; Brzozowska A; Crabtree J S; Wang Y; Roe B A; Weisemann J M; Boguski M S; Agarwal S K; Burns A L; Spiegel A M; Marx S J; Flejter W L; de Jong P J; Collins F S; Chandrasekharappa S C
A 2.8-Mb clone contig of the multiple endocrine neoplasia type 1 (MEN1) region at 11q13.
Genomics 1997;42(3):436-45.
1997: Debelenko L V; Zhuang Z; Emmert-Buck M R; Chandrasekharappa S C; Manickam P; Guru S C; Marx S J; Skarulis M C; Spiegel A M; Collins F S; Jensen R T; Liotta L A; Lubensky I A
Allelic deletions on chromosome 11q13 in multiple endocrine neoplasia type 1-associated and sporadic gastrinomas and pancreatic endocrine tumors.
Cancer research 1997;57(11):2238-43.
1997: Dunston G M; Akinsete O; Collins F S
Diabetes project.
Science (New York, N.Y.) 1997;276(5315):1013.
1997: Humphrey J S; Salim A; Erdos M R; Collins F S; Brody L C; Klausner R D
Human BRCA1 inhibits growth in yeast: potential use in diagnostic testing.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(11):5820-5.
1997: Emmert-Buck M R; Lubensky I A; Dong Q; Manickam P; Guru S C; Kester M B; Olufemi S E; Agarwal S; Burns A L; Spiegel A M; Collins F S; Marx S J; Zhuang Z; Liotta L A; Chandrasekharappa S C; Debelenko L V
Localization of the multiple endocrine neoplasia type I (MEN1) gene based on tumor loss of heterozygosity analysis.
Cancer research 1997;57(10):1855-8.
1997: Dong Q; Debelenko L V; Chandrasekharappa S C; Emmert-Buck M R; Zhuang Z; Guru S C; Manickam P; Skarulis M; Lubensky I A; Liotta L A; Collins F S; Marx S J; Spiegel A M
Loss of heterozygosity at 11q13: analysis of pituitary tumors, lung carcinoids, lipomas, and other uncommon tumors in subjects with familial multiple endocrine neoplasia type 1.
The Journal of clinical endocrinology and metabolism 1997;82(5):1416-20.
1997: Chandrasekharappa S C; Guru S C; Manickam P; Olufemi S E; Collins F S; Emmert-Buck M R; Debelenko L V; Zhuang Z; Lubensky I A; Liotta L A; Crabtree J S; Wang Y; Roe B A; Weisemann J; Boguski M S; Agarwal S K; Kester M B; Kim Y S; Heppner C; Dong Q; Spiegel A M; Burns A L; Marx S J
Positional cloning of the gene for multiple endocrine neoplasia-type 1.
Science (New York, N.Y.) 1997;276(5311):404-7.
1997: Debelenko L V; Emmert-Buck M R; Manickam P; Kester M; Guru S C; DiFranco E M; Olufemi S E; Agarwal S; Lubensky I A; Zhuang Z; Burns A L; Spiegel A M; Liotta L A; Collins F S; Marx S J; Chandrasekharappa S C
Haplotype analysis defines a minimal interval for the multiple endocrine neoplasia type 1 (MEN1) gene.
Cancer research 1997;57(6):1039-42.
1997: Brown K D; Ziv Y; Sadanandan S N; Chessa L; Collins F S; Shiloh Y; Tagle D A
The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(5):1840-5.
1997: Ghosh S; Karanjawala Z E; Hauser E R; Ally D; Knapp J I; Rayman J B; Musick A; Tannenbaum J; Te C; Shapiro S; Eldridge W; Musick T; Martin C; Smith J R; Carpten J D; Brownstein M J; Powell J I; Whiten R; Chines P; Nylund S J; Magnuson V L; Boehnke M; Collins F S
Methods for precise sizing, automated binning of alleles, and reduction of error rates in large-scale genotyping using fluorescently labeled dinucleotide markers. FUSION (Finland-U.S. Investigation of NIDDM Genetics) Study Group.
Genome research 1997;7(2):165-78.
1997: Russell M W; du Manoir S; Collins F S; Brody L C
Cloning of the human NADH: ubiquinone oxidoreductase subunit B13: localization to chromosome 7q32 and identification of a pseudogene on 11p15.
Mammalian genome : official journal of the International Mammalian Genome Society 1997;8(1):60-1.
1997: Collins F S
Sequencing the human genome.
Hospital practice (1995) 1997;32(1):35-43, 46-9, 53-4.
1997: Highsmith W E; Burch L H; Zhou Z; Olsen J C; Strong T V; Smith T; Friedman K J; Silverman L M; Boucher R C; Collins F S; Knowles M R
Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis.
Human mutation 1997;9(4):332-8.
1997: Fink L; Collins F S
The Human Genome Project: view from the National Institutes of Health.
Journal of the American Medical Women's Association (1972) 1997;52(1):4-7, 15.
1996: Adelstein R S; Collins F S; Hajra A; Kelley C A; Liu P P; Speck N A; Stacy T; Wang Q
The leukemic core binding factor beta-smooth muscle myosin heavy chain (CBF beta-SMMHC) chimeric protein requires both CBF beta and myosin heavy chain domains for transformation of NIH 3T3 cells.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(26):15523.
1996: Hajra A; Liu P P; Speck N A; Collins F S
Overexpression of core-binding factor alpha (CBF alpha) reverses cellular transformation by the CBF beta-smooth muscle myosin heavy chain chimeric oncoprotein.
Molecular and cellular biology 1996;16(12):7185.
1996: Hacia J G; Brody L C; Chee M S; Fodor S P; Collins F S
Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis.
Nature genetics 1996;14(4):441-7.
1996: Hajra A; Collins F S
Structure of the leukemia-associated human CBFB gene.
Genomics 1996;38(1):107.
1996: Castilla L H; Wijmenga C; Wang Q; Stacy T; Speck N A; Eckhaus M; Marín-Padilla M; Collins F S; Wynshaw-Boris A; Liu P P
Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11.
Cell 1996;87(4):687-96.
1996: Lubensky I A; Debelenko L V; Zhuang Z; Emmert-Buck M R; Dong Q; Chandrasekharappa S; Guru S C; Manickam P; Olufemi S E; Marx S J; Spiegel A M; Collins F S; Liotta L A
Allelic deletions on chromosome 11q13 in multiple tumors from individual MEN1 patients.
Cancer research 1996;56(22):5272-8.
1996: Smith J R; Freije D; Carpten J D; Grönberg H; Xu J; Isaacs S D; Brownstein M J; Bova G S; Guo H; Bujnovszky P; Nusskern D R; Damber J E; Bergh A; Emanuelsson M; Kallioniemi O P; Walker-Daniels J; Bailey-Wilson J E; Beaty T H; Meyers D A; Walsh P C; Collins F S; Trent J M; Isaacs W B
Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search.
Science (New York, N.Y.) 1996;274(5291):1371-4.
1996: Abel K J; Brody L C; Valdes J M; Erdos M R; McKinley D R; Castilla L H; Merajver S D; Couch F J; Friedman L S; Ostermeyer E A; Lynch E D; King M C; Welcsh P L; Osborne-Lawrence S; Spillman M; Bowcock A M; Collins F S; Weber B L
Characterization of EZH1, a human homolog of Drosophila Enhancer of zeste near BRCA1.
Genomics 1996;37(2):161-71.
1996: Magnuson V L; Ally D S; Nylund S J; Karanjawala Z E; Rayman J B; Knapp J I; Lowe A L; Ghosh S; Collins F S
Substrate nucleotide-determined non-templated addition of adenine by Taq DNA polymerase: implications for PCR-based genotyping and cloning.
BioTechniques 1996;21(4):700-9.
1996: Burke W; Kahn M J; Garber J E; Collins F S
"First do no harm" also applies to cancer susceptibility testing.
The cancer journal from Scientific American 1996;2(5):250-2.
1996: Russell M W; du Manoir S; Munroe D J; Collins F S; Brody L C
Chromosomal localization of 15 ion channel genes.
Somatic cell and molecular genetics 1996;22(5):425-31.
1996: Russell M W; Dick M; Collins F S; Brody L C
KVLQT1 mutations in three families with familial or sporadic long QT syndrome.
Human molecular genetics 1996;5(9):1319-24.
1996: Barlow C; Hirotsune S; Paylor R; Liyanage M; Eckhaus M; Collins F; Shiloh Y; Crawley J N; Ried T; Tagle D; Wynshaw-Boris A
Atm-deficient mice: a paradigm of ataxia telangiectasia.
Cell 1996;86(1):159-71.
1996: Russell M W; Munroe D J; Bric E; Housman D E; Dietz-Band J; Riethman H C; Collins F S; Brody L C
A 500-kb physical map and contig from the Harvey ras-1 gene to the 11p telomere.
Genomics 1996;35(2):353-60.
1996: Pecker I; Avraham K B; Gilbert D J; Savitsky K; Rotman G; Harnik R; Fukao T; Schröck E; Hirotsune S; Tagle D A; Collins F S; Wynshaw-Boris A; Ried T; Copeland N G; Jenkins N A; Shiloh Y; Ziv Y
Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia gene.
Genomics 1996;35(1):39-45.
1996: Liu P P; Wijmenga C; Hajra A; Blake T B; Kelley C A; Adelstein R S; Bagg A; Rector J; Cotelingam J; Willman C L; Collins F S
Identification of the chimeric protein product of the CBFB-MYH11 fusion gene in inv(16) leukemia cells.
Genes, chromosomes & cancer 1996;16(2):77-87.
1996: Feigenbaum L; Fujita K; Collins F S; Jay G
Repression of the NF1 gene by Tax may expain the development of neurofibromas in human T-lymphotropic virus type 1 transgenic mice.
Journal of virology 1996;70(5):3280-5.
1996: Savitsky K; Ziv Y; Bar-Shira A; Gilad S; Tagle D A; Smith S; Uziel T; Sfez S; Nahmias J; Sartiel A; Eddy R L; Shows T B; Collins F S; Shiloh Y; Rotman G
A human gene (DDX10) encoding a putative DEAD-box RNA helicase at 11q22-q23.
Genomics 1996;33(2):199-206.
1996: Jordan E; Collins F S
A march of genetic maps.
Nature 1996;380(6570):111-2.
1996: Bennett-Baker P E; Kiousis S; Chandrasekharappa S C; King S E; Abel K J; Collins F S; Weber B L; Chamberlain J S
Isolation of tetranucleotide repeat polymorphisms flanking the BRCA1 gene.
Genomics 1996;32(1):163-7.
1996: Wijmenga C; Gregory P E; Hajra A; Schröck E; Ried T; Eils R; Liu P P; Collins F S
Core binding factor beta-smooth muscle myosin heavy chain chimeric protein involved in acute myeloid leukemia forms unusual nuclear rod-like structures in transformed NIH 3T3 cells.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(4):1630-5.
1996: Wilkinson D J; Mansoura M K; Watson P Y; Smit L S; Collins F S; Dawson D C
CFTR: the nucleotide binding folds regulate the accessibility and stability of the activated state.
The Journal of general physiology 1996;107(1):103-19.
1996: Rosenfeld M A; Collins F S
Gene therapy for cystic fibrosis.
Chest 1996;109(1):241-52.
1996: Collins F S
BRCA1--lots of mutations, lots of dilemmas.
The New England journal of medicine 1996;334(3):186-8.
1996: Nasr S Z; Strong T V; Mansoura M K; Dawson D C; Collins F S
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
Human mutation 1996;7(2):151-4.
1996: Ghosh S; Collins F S
The geneticist's approach to complex disease.
Annual review of medicine 1996;47():333-53.
1996: Hajra A; Liu P P; Collins F S
Transforming properties of the leukemic inv(16) fusion gene CBFB-MYH11.
Current topics in microbiology and immunology 1996;211():289-98.
1995: Savitsky K; Sfez S; Tagle D A; Ziv Y; Sartiel A; Collins F S; Shiloh Y; Rotman G
The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species.
Human molecular genetics 1995;4(11):2025-32.
1995: Guyer M S; Collins F S
How is the Human Genome Project doing, and what have we learned so far?
Proceedings of the National Academy of Sciences of the United States of America 1995;92(24):10841-8.
1995: Collins F S
Ahead of schedule and under budget: the Genome Project passes its fifth birthday.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(24):10821-3.
1995: Smith J R; Carpten J D; Brownstein M J; Ghosh S; Magnuson V L; Gilbert D A; Trent J M; Collins F S
Approach to genotyping errors caused by nontemplated nucleotide addition by Taq DNA polymerase.
Genome research 1995;5(3):312-7.
1995: Hudson K L; Rothenberg K H; Andrews L B; Kahn M J; Collins F S
Genetic discrimination and health insurance: an urgent need for reform.
Science (New York, N.Y.) 1995;270(5235):391-3.
1995: Struewing J P; Abeliovich D; Peretz T; Avishai N; Kaback M M; Collins F S; Brody L C
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals.
Nature genetics 1995;11(2):198-200.
1995: Ho P P; Couch F J; Brody L C; Abel K J; Boehnke M; Shearon T H; Chandrasekharappa S C; Collins F S; Weber B L
Localization of the human homolog of the yeast cell division control 27 gene (CDC27) proximal to ITGB3 on human chromosome 17q21.3.
Somatic cell and molecular genetics 1995;21(5):351-5.
1995: Hajra A; Liu P P; Speck N A; Collins F S
Overexpression of core-binding factor alpha (CBF alpha) reverses cellular transformation by the CBF beta-smooth muscle myosin heavy chain chimeric oncoprotein.
Molecular and cellular biology 1995;15(9):4980-9.
1995: Morrow D M; Tagle D A; Shiloh Y; Collins F S; Hieter P
TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1.
Cell 1995;82(5):831-40.
1995: Russell M W; Dick M; Campbell R M; Hulse J E; Munroe D J; Bric E; Housman D E; Collins F S; Brody L C
Localization of Romano-Ward long QT syndrome gene, LQT1, to the interval between tyrosine hydroxylase (TH) and D11S1349.
American journal of human genetics 1995;57(2):503-7.
1995: Asamoah A; North K; Doran S; Wagstaff J; Ogle R; Collins F S; Korf B R
17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one.
American journal of medical genetics 1995;60(4):312-6.
1995: Struewing J P; Brody L C; Erdos M R; Kase R G; Giambarresi T R; Smith S A; Collins F S; Tucker M A
Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer.
American journal of human genetics 1995;57(1):1-7.
1995: Savitsky K; Bar-Shira A; Gilad S; Rotman G; Ziv Y; Vanagaite L; Tagle D A; Smith S; Uziel T; Sfez S; Ashkenazi M; Pecker I; Frydman M; Harnik R; Patanjali S R; Simmons A; Clines G A; Sartiel A; Gatti R A; Chessa L; Sanal O; Lavin M F; Jaspers N G; Taylor A M; Arlett C F; Miki T; Weissman S M; Lovett M; Collins F S; Shiloh Y
A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
Science (New York, N.Y.) 1995;268(5218):1749-53.
1995: Merajver S D; Frank T S; Xu J; Pham T M; Calzone K A; Bennett-Baker P; Chamberlain J; Boyd J; Garber J E; Collins F S
Germline BRCA1 mutations and loss of the wild-type allele in tumors from families with early onset breast and ovarian cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research 1995;1(5):539-44.
1995: Liu P P; Hajra A; Wijmenga C; Collins F S
Molecular pathogenesis of the chromosome 16 inversion in the M4Eo subtype of acute myeloid leukemia.
Blood 1995;85(9):2289-302.
1995: Merajver S D; Pham T M; Caduff R F; Chen M; Poy E L; Cooney K A; Weber B L; Collins F S; Johnston C; Frank T S
Somatic mutations in the BRCA1 gene in sporadic ovarian tumours.
Nature genetics 1995;9(4):439-43.
1995: Collins F S
Positional cloning moves from perditional to traditional.
Nature genetics 1995;9(4):347-50.
1995: Vanagaite L; James M R; Rotman G; Savitsky K; Bar-Shira A; Gilad S; Ziv Y; Uchenik V; Sartiel A; Collins F S; Sheffield V C; Richard C W; Weissenbach J; Shiloh Y
A high-density microsatellite map of the ataxia-telangiectasia locus.
Human genetics 1995;95(4):451-4.
1995: Rotman G; Vanagaite L; Collins F S; Shiloh Y
Rapid identification of polymorphic CA-repeats in YAC clones.
Molecular biotechnology 1995;3(2):85-92.
1995: Wijmenga C; Speck N A; Dracopoli N C; Hofker M H; Liu P; Collins F S
Identification of a new murine runt domain-containing gene, Cbfa3, and localization of the human homolog, CBFA3, to chromosome 1p35-pter.
Genomics 1995;26(3):611-4.
1995: Hajra A; Collins F S
Structure of the leukemia-associated human CBFB gene.
Genomics 1995;26(3):571-9.
1995: Hajra A; Liu P P; Wang Q; Kelley C A; Stacy T; Adelstein R S; Speck N A; Collins F S
The leukemic core binding factor beta-smooth muscle myosin heavy chain (CBF beta-SMMHC) chimeric protein requires both CBF beta and myosin heavy chain domains for transformation of NIH 3T3 cells.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(6):1926-30.
1995: Marlton P; Claxton D F; Liu P; Estey E H; Beran M; LeBeau M; Testa J R; Collins F S; Rowley J D; Siciliano M J
Molecular characterization of 16p deletions associated with inversion 16 defines the critical fusion for leukemogenesis.
Blood 1995;85(3):772-9.
1995: Couch F J; Garber J; Kiousis S; Calzone K; Hauser E R; Merajver S D; Frank T S; Boehnke M; Chamberlain J S; Collins F S
Genetic analysis of eight breast-ovarian cancer families with suspected BRCA1 mutations.
Journal of the National Cancer Institute. Monographs 1995;(17):9-14.
1995: Trent J M; Weber B; Guan X Y; Zhang J; Collins F; Abel K; Diamond A; Meltzer P
Microdissection and microcloning of chromosomal alterations in human breast cancer.
Breast cancer research and treatment 1995;33(2):95-102.
1995: Weber B L; Abel K J; Couch F J; Merajver S; Castilla L; Brody L C; Collins F S
Transcript identification in the BRCA1 candidate region.
Breast cancer research and treatment 1995;33(2):115-24.
1995: Gutmann D H; Cole J L; Collins F S
Expression of the neurofibromatosis type 1 (NF1) gene during mouse embryonic development.
Progress in brain research 1995;105():327-35.
1995: Biesecker L G; Collins F S; DeRenzo E G; Grady C; MacKay C R
Case: responding to a request for genetic testing that is still in the lab.
Cambridge quarterly of healthcare ethics : CQ : the international journal of healthcare ethics committees 1995;4(3):387-400.
1994: Couch F J; Kiousis S; Castilla L H; Xu J; Chandrasekharappa S C; Chamberlain J S; Collins F S; Weber B L
Characterization of 10 new polymorphic dinucleotide repeats and generation of a high-density microsatellite-based physical map of the BRCA1 region of chromosome 17q21.
Genomics 1994;24(3):419-24.
1994: Sartin E A; Doran S E; Riddell M G; Herrera G A; Tennyson G S; D'Andrea G; Whitley R D; Collins F S
Characterization of naturally occurring cutaneous neurofibromatosis in Holstein cattle. A disorder resembling neurofibromatosis type 1 in humans.
The American journal of pathology 1994;145(5):1168-74.
1994: Rotman G; Vanagaite L; Collins F S; Shiloh Y
Three dinucleotide repeat polymorphisms at the ataxia-telangiectasia locus.
Human molecular genetics 1994;3(11):2079.
1994: Rotman G; Savitsky K; Ziv Y; Cole C G; Higgins M J; Bar-Am I; Dunham I; Bar-Shira A; Vanagaite L; Qin S; Zhang J; Nowak N J; Chandrasekharappa S C; Lehrach H; Avivi L; Shows T B; Collins F S; Bentley D R; Shiloh Y
A YAC contig spanning the ataxia-telangiectasia locus (groups A and C) at 11q22-q23.
Genomics 1994;24(2):234-42.
1994: Nasr S Z; Strong T V; Collins F S
Identification of a CFTR frameshift mutation (1013 delAA) in trans to delta F508 in a pancreatic sufficient cystic fibrosis patient.
Human molecular genetics 1994;3(11):2063-4.
1994: Gottesman M M; Collins F S
The role of the human genome project in disease prevention.
Preventive medicine 1994;23(5):591-4.
1994: Weber B L; Abel K J; Brody L C; Flejter W L; Chandrasekharappa S C; Couch F J; Merajver S D; Collins F S
Familial breast cancer. Approaching the isolation of a susceptibility gene.
Cancer 1994;74(3 Suppl):1013-20.
1994: Vanagaite L; Savitsky K; Rotman G; Ziv Y; Gerken S C; White R; Weissenbach J; Gillett G; Benham F J; Richard C W; James M R; Collins F S; Shiloh Y
Physical localization of microsatellite markers at the ataxia-telangiectasia locus at 11q22-q23.
Genomics 1994;22(1):231-3.
1994: Valdes J M; Tagle D A; Collins F S
Island rescue PCR: a rapid and efficient method for isolating transcribed sequences from yeast artificial chromosomes and cosmids.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(12):5377-81.
1994: Hajra A; Martin-Gallardo A; Tarlé S A; Freedman M; Wilson-Gunn S; Bernards A; Collins F S
DNA sequences in the promoter region of the NF1 gene are highly conserved between human and mouse.
Genomics 1994;21(3):649-52.
1994: Chandrasekharappa S C; Friedman L; King S E; Lee Y H; Welsch P; Bowcock A M; Weber B L; King M C; Collins F S
The gene for pancreatic polypeptide (PPY) and the anonymous marker D17S78 are within 45 kb of each other on chromosome 17q21.
Genomics 1994;21(2):458-60.
1994: Couch F J; Abel K J; Brody L C; Boehnke M; Collins F S; Weber B L
Localization of the gene for ATP citrate lyase (ACLY) distal to gastrin(GAS) and proximal to D17S856 on chromosome 17q12-q21.
Genomics 1994;21(2):444-6.
1994: Legius E; Hall B K; Wallace M R; Collins F S; Glover T W
Ten base pair duplication in exon 38 of the NF1 gene.
Human molecular genetics 1994;3(5):829-30.
1994: Gutmann D H; Cole J L; Stone W J; Ponder B A; Collins F S
Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I.
Genes, chromosomes & cancer 1994;10(1):55-8.
1994: Gumucio D L; Shelton D A; Blanchard-McQuate K; Gray T; Tarle S; Heilstedt-Williamson H; Slightom J L; Collins F; Goodman M
Differential phylogenetic footprinting as a means to identify base changes responsible for recruitment of the anthropoid gamma gene to a fetal expression pattern.
The Journal of biological chemistry 1994;269(21):15371-80.
1994: Nakamura T; Nemoto T; Arai M; Yamazaki Y; Kasuga T; Gutmann D H; Collins F S; Ishikawa T
Specific expression of the neurofibromatosis type 1 gene (NF1) in the hamster Schwann cell.
The American journal of pathology 1994;144(3):549-55.
1994: Boyer M J; Gutmann D H; Collins F S; Bar-Sagi D
Crosslinking of the surface immunoglobulin receptor in B lymphocytes induces a redistribution of neurofibromin but not p120-GAP.
Oncogene 1994;9(2):349-57.
1994: Gutmann D H; Cole J L; Collins F S
Modulation of neurofibromatosis type 1 gene expression during in vitro myoblast differentiation.
Journal of neuroscience research 1994;37(3):398-405.
1994: Horiuchi T; Hatta N; Matsumoto M; Ohtsuka H; Collins F S; Kobayashi Y; Fujita S
Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese.
Human genetics 1994;93(1):81-3.
1994: Strong T V; Boehm K; Collins F S
Localization of cystic fibrosis transmembrane conductance regulator mRNA in the human gastrointestinal tract by in situ hybridization.
The Journal of clinical investigation 1994;93(1):347-54.
1994: Liu P; Seidel N; Bodine D; Speck N; Tarlé S; Collins F S
Acute myeloid leukemia with Inv (16) produces a chimeric transcription factor with a myosin heavy chain tail.
Cold Spring Harbor symposia on quantitative biology 1994;59():547-53.
1993: Chandrasekharappa S C; King S E; Freedman M L; Hayes S T; Bowcock A M; Collins F S
The CA repeat marker D17S791 is located within 40 kb of the WNT3 gene on chromosome 17q.
Genomics 1993;18(3):728-9.
1993: Reyniers E; De Boulle K; Marchuk D A; Andersen L B; Collins F S; Willems P J
An EcoRI RFLP in the 5' region of the human NF1 gene.
Human genetics 1993;92(6):631.
1993: Cohn J A; Strong T V; Picciotto M R; Nairn A C; Collins F S; Fitz J G
Localization of the cystic fibrosis transmembrane conductance regulator in human bile duct epithelial cells.
Gastroenterology 1993;105(6):1857-64.
1993: Strong T V; Tagle D A; Valdes J M; Elmer L W; Boehm K; Swaroop M; Kaatz K W; Collins F S; Albin R L
Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues.
Nature genetics 1993;5(3):259-65.
1993: Guyer M S; Collins F S
The Human Genome Project and the future of medicine.
American journal of diseases of children (1960) 1993;147(11):1145-52.
1993: Gutmann D H; Collins F S
Neurofibromatosis type 1. Beyond positional cloning.
Archives of neurology 1993;50(11):1185-93.
1993: Smit L S; Wilkinson D J; Mansoura M K; Collins F S; Dawson D C
Functional roles of the nucleotide-binding folds in the activation of the cystic fibrosis transmembrane conductance regulator.
Proceedings of the National Academy of Sciences of the United States of America 1993;90(21):9963-7.
1993: Deng Z; Liu P; Marlton P; Claxton D F; Lane S; Callen D F; Collins F S; Siciliano M J
Smooth muscle myosin heavy chain locus (MYH11) maps to 16p13.13-p13.12 and establishes a new region of conserved synteny between human 16p and mouse 16.
Genomics 1993;18(1):156-9.
1993: Colman S D; Collins F S; Wallace M R
Characterization of a single base-pair deletion in neurofibromatosis type 1.
Human molecular genetics 1993;2(10):1709-11.
1993: Gutmann D H; Tennekoon G I; Cole J L; Collins F S; Rutkowski J L
Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation.
Journal of neuroscience research 1993;36(2):216-23.
1993: Abel K J; Boehnke M; Prahalad M; Ho P; Flejter W L; Watkins M; VanderStoep J; Chandrasekharappa S C; Collins F S; Glover T W
A radiation hybrid map of the BRCA1 region of chromosome 17q12-q21.
Genomics 1993;17(3):632-41.
1993: Flejter W L; Barcroft C L; Guo S W; Lynch E D; Boehnke M; Chandrasekharappa S; Hayes S; Collins F S; Weber B L; Glover T W
Multicolor FISH mapping with Alu-PCR-amplified YAC clone DNA determines the order of markers in the BRCA1 region on chromosome 17q12-q21.
Genomics 1993;17(3):624-31.
1993: Decker R A; Collins F S
Dinucleotide repeat polymorphism at the D10S469 locus.
Human molecular genetics 1993;2(8):1330.
1993: Liu P; Tarlé S A; Hajra A; Claxton D F; Marlton P; Freedman M; Siciliano M J; Collins F S
Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia.
Science (New York, N.Y.) 1993;261(5124):1041-4.
1993: Liu P; Claxton D F; Marlton P; Hajra A; Siciliano J; Freedman M; Chandrasekharappa S C; Yanagisawa K; Stallings R L; Collins F S
Identification of yeast artificial chromosomes containing the inversion 16 p-arm breakpoint associated with acute myelomonocytic leukemia.
Blood 1993;82(3):716-21.
1993: Yang Y; Devor D C; Engelhardt J F; Ernst S A; Strong T V; Collins F S; Cohn J A; Frizzell R A; Wilson J M
Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR.
Human molecular genetics 1993;2(8):1253-61.
1993: Gutman D H; Andersen L B; Cole J L; Swaroop M; Collins F S
An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle.
Human molecular genetics 1993;2(7):989-92.
1993: Andersen L B; Tarlé S A; Marchuk D A; Legius E; Collins F S
A compound nucleotide repeat in the neurofibromatosis (NF1) gene.
Human molecular genetics 1993;2(7):1083.
1993: Tagle D A; Blanchard-McQuate K L; Valdes J; Castilla L; Collins F S
Dinucleotide repeat polymorphisms at the D4S126 and D4S114 loci.
Human molecular genetics 1993;2(7):1077.
1993: Koh J; Sferra T J; Collins F S
Characterization of the cystic fibrosis transmembrane conductance regulator promoter region. Chromatin context and tissue-specificity.
The Journal of biological chemistry 1993;268(21):15912-21.
1993: Valdes J M; Tagle D A; Elmer L W; Collins F S
A simple non-radioactive method for diagnosis of Huntington's disease.
Human molecular genetics 1993;2(6):633-4.
1993: Gregory P E; Gutmann D H; Mitchell A; Park S; Boguski M; Jacks T; Wood D L; Jove R; Collins F S
Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules.
Somatic cell and molecular genetics 1993;19(3):265-74.
1993: Tagle D A; Blanchard-McQuate K L; Valdes J; Castilla L; MacDonald M E; Gusella J F; Collins F S
Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus.
Human molecular genetics 1993;2(4):489.
1993: Biesecker B B; Boehnke M; Calzone K; Markel D S; Garber J E; Collins F S; Weber B L
Genetic counseling for families with inherited susceptibility to breast and ovarian cancer.
JAMA : the journal of the American Medical Association 1993;269(15):1970-4.
1993: Chandrasekharappa S C; Gross L A; King S E; Collins F S
The human NME2 gene lies within 18kb of NME1 in chromosome 17.
Genes, chromosomes & cancer 1993;6(4):245-8.
1993: Gutmann D H; Collins F S
The neurofibromatosis type 1 gene and its protein product, neurofibromin.
Neuron 1993;10(3):335-43.
1993: Gutmann D H; Boguski M; Marchuk D; Wigler M; Collins F S; Ballester R
Analysis of the neurofibromatosis type 1 (NF1) GAP-related domain by site-directed mutagenesis.
Oncogene 1993;8(3):761-9.
1993: Legius E; Marchuk D A; Collins F S; Glover T W
Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis.
Nature genetics 1993;3(2):122-6.
1993: Andersen L B; Fountain J W; Gutmann D H; Tarlé S A; Glover T W; Dracopoli N C; Housman D E; Collins F S
Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines.
Nature genetics 1993;3(2):118-21.
1993: Tagle D A; Swaroop M; Lovett M; Collins F S
Magnetic bead capture of expressed sequences encoded within large genomic segments.
Nature 1993;361(6414):751-3.
1993: Andersen L B; Ballester R; Marchuk D A; Chang E; Gutmann D H; Saulino A M; Camonis J; Wigler M; Collins F S
A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity.
Molecular and cellular biology 1993;13(1):487-95.
1993: Flejter W L; Watkins M; Abel K J; Chandrasekharappa S C; Weber B L; Collins F S; Glover T W
Isolation and characterization of somatic cell hybrids with breakpoints spanning 17q22-->q24.
Cytogenetics and cell genetics 1993;64(3-4):222-3.
1993: Drumm M L; Collins F S
Molecular biology of cystic fibrosis.
Molecular genetic medicine 1993;3():33-68.
1993: Smit L S; Nasr S Z; Iannuzzi M C; Collins F S
An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels.
Human mutation 1993;2(2):148-51.
1993: Sferra T J; Collins F S
The molecular biology of cystic fibrosis.
Annual review of medicine 1993;44():133-44.
1992: Gumucio D L; Heilstedt-Williamson H; Gray T A; Tarlé S A; Shelton D A; Tagle D A; Slightom J L; Goodman M; Collins F S
Phylogenetic footprinting reveals a nuclear protein which binds to silencer sequences in the human gamma and epsilon globin genes.
Molecular and cellular biology 1992;12(11):4919-29.
1992: Kayes L M; Schroeder W T; Marchuk D A; Collins F S; Riccardi V M; Duvic M; Stephens K
The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene.
Genomics 1992;14(2):369-76.
1992: Wilson J M; Collins F S
Cystic fibrosis. More from the modellers.
Nature 1992;359(6392):195-6.
1992: Collins F S; Wilson J M
Cystic fibrosis. A welcome animal model.
Nature 1992;358(6389):708-9.
1992: Legius E; Marchuk D A; Hall B K; Andersen L B; Wallace M R; Collins F S; Glover T W
NF1-related locus on chromosome 15.
Genomics 1992;13(4):1316-8.
1992: Snell R G; Thompson L M; Tagle D A; Holloway T L; Barnes G; Harley H G; Sandkuijl L A; MacDonald M E; Collins F S; Gusella J F
A recombination event that redefines the Huntington disease region.
American journal of human genetics 1992;51(2):357-62.
1992: Marchuk D A; Tavakkol R; Wallace M R; Brownstein B H; Taillon-Miller P; Fong C T; Legius E; Andersen L B; Glover T W; Collins F S
A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene.
Genomics 1992;13(3):672-80.
1992: Kamei T; Fukushima Y; Shibata A; Hayashi Y; Tachibana N; Takeda I; Niikawa N; Collins F S; Takahashi K; Masumura S
DNA deletion in patients with von Recklinghausen neurofibromatosis.
Clinical genetics 1992;42(1):53-4.
1992: Tagle D A; Blanchard-McQuate K L; Collins F S
Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S43 locus.
Human molecular genetics 1992;1(3):215.
1992: Gutmann D H; Collins F S
Recent progress toward understanding the molecular biology of von Recklinghausen neurofibromatosis.
Annals of neurology 1992;31(5):555-61.
1992: Gusella J F; Altherr M R; McClatchey A I; Doucette-Stamm L A; Tagle D; Plummer S; Groot N; Barnes G; Hummerich H; Collins F S
Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region.
Genomics 1992;13(1):75-80.
1992: Collins F S
Cystic fibrosis: molecular biology and therapeutic implications.
Science (New York, N.Y.) 1992;256(5058):774-9.
1992: Tagle D A; Collins F S
An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids.
Human molecular genetics 1992;1(2):121-2.
1992: Basu T N; Gutmann D H; Fletcher J A; Glover T W; Collins F S; Downward J
Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients.
Nature 1992;356(6371):713-5.
1992: Collins F S
Positional cloning: let's not call it reverse anymore.
Nature genetics 1992;1(1):3-6.
1992: Krauss R D; Bubien J K; Drumm M L; Zheng T; Peiper S C; Collins F S; Kirk K L; Frizzell R A; Rado T A
Transfection of wild-type CFTR into cystic fibrosis lymphocytes restores chloride conductance at G1 of the cell cycle.
The EMBO journal 1992;11(3):875-83.
1992: Martin-Gallardo A; Marchuk D A; Gocayne J; Kerlavage A R; McCombie W R; Venter J C; Collins F S; Wallace M R
Sequencing and analysis of genomic fragments from the NF1 locus.
DNA sequence : the journal of DNA sequencing and mapping 1992;3(4):237-43.
1992: Strong T V; Smit L S; Nasr S; Wood D L; Cole J L; Iannuzzi M C; Stern R C; Collins F S
Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Human mutation 1992;1(5):380-7.
1991: Marchuk D A; Saulino A M; Tavakkol R; Swaroop M; Wallace M R; Andersen L B; Mitchell A L; Gutmann D H; Boguski M; Collins F S
cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product.
Genomics 1991;11(4):931-40.
1991: Collins F S
Of needles and haystacks: finding human disease genes by positional cloning.
Clinical research 1991;39(4):615-23.
1991: Drumm M L; Wilkinson D J; Smit L S; Worrell R T; Strong T V; Frizzell R A; Dawson D C; Collins F S
Chloride conductance expressed by delta F508 and other mutant CFTRs in Xenopus oocytes.
Science (New York, N.Y.) 1991;254(5039):1797-9.
1991: Goldberg N S; Collins F S
The hunt for the neurofibromatosis gene.
Archives of dermatology 1991;127(11):1705-7.
1991: Gutmann D H; Wood D L; Collins F S
Identification of the neurofibromatosis type 1 gene product.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(21):9658-62.
1991: Collins F S
Identification of disease genes: recent successes.
Hospital practice (Office ed.) 1991;26(10):93-8.
1991: Gumucio D L; Rood K L; Blanchard-McQuate K L; Gray T A; Saulino A; Collins F S
Interaction of Sp1 with the human gamma globin promoter: binding and transactivation of normal and mutant promoters.
Blood 1991;78(7):1853-63.
1991: Wallace M R; Andersen L B; Saulino A M; Gregory P E; Glover T W; Collins F S
A de novo Alu insertion results in neurofibromatosis type 1.
Nature 1991;353(6347):864-6.
1991: Gibson A L; Wagner L M; Collins F S; Oxender D L
A bacterial system for investigating transport effects of cystic fibrosis--associated mutations.
Science (New York, N.Y.) 1991;254(5028):109-11.
1991: Andersen L B; Wallace M R; Marchuk D A; Tavakkol R; Mitchell A; Saulino A M; Collins F S
A highly polymorphic cDNA probe in the NF1 gene.
Nucleic acids research 1991;19(13):3754.
1991: Iannuzzi M C; Hidaka N; Boehnke M; Bruck M E; Hanna W T; Collins F S; Ginsburg D
Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr).
American journal of human genetics 1991;48(4):757-63.
1991: Marchuk D; Drumm M; Saulino A; Collins F S
Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products.
Nucleic acids research 1991;19(5):1154.
1991: Iannuzzi M C; Stern R C; Collins F S; Hon C T; Hidaka N; Strong T; Becker L; Drumm M L; White M B; Gerrard B
Two frameshift mutations in the cystic fibrosis gene.
American journal of human genetics 1991;48(2):227-31.
1991: Collins F S
The Genome Project and human health.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1991;5(1):77.
1991: Andersen L B; Wallace M R; Marchuk D A; Cawthon R M; Odeh H M; Letcher R; White R L; Collins F S
A polymorphic cDNA probe on chromosome 17q11.2 located within the NF1 gene [D17S376]
Nucleic acids research 1991;19(1):197.
1991: Collins F S
Medical and ethical consequences of the human genome project.
The Journal of clinical ethics 1991;2(4):260-7.
1991: Wallace M R; Collins F S
Molecular genetics of von Recklinghausen neurofibromatosis.
Advances in human genetics 1991;20():267-307.
1990: Kerem B S; Zielenski J; Markiewicz D; Bozon D; Gazit E; Yahav J; Kennedy D; Riordan J R; Collins F S; Rommens J M
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(21):8447-51.
1990: Wallace M R; Andersen L B; Fountain J W; Odeh H M; Viskochil D; Marchuk D A; O'Connell P; White R; Collins F S
A chromosome jump crosses a translocation breakpoint in the von Recklinghausen neurofibromatosis region.
Genes, chromosomes & cancer 1990;2(4):271-7.
1990: Collins F S; Riordan J R; Tsui L C
The cystic fibrosis gene: isolation and significance.
Hospital practice (Office ed.) 1990;25(10):47-57.
1990: Drumm M L; Pope H A; Cliff W H; Rommens J M; Marvin S A; Tsui L C; Collins F S; Frizzell R A; Wilson J M
Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer.
Cell 1990;62(6):1227-33.
1990: Weber J L; Kwitek A E; May P E; Wallace M R; Collins F S; Ledbetter D H
Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci.
Nucleic acids research 1990;18(15):4640.
1990: Ledbetter S A; Wallace M R; Collins F S; Ledbetter D H
Human chromosome 17 NotI linking clones and their use in long-range restriction mapping of the Miller-Dieker chromosome region (MDCR) in 17p13.3.
Genomics 1990;7(2):264-9.
1990: Walker A P; Collins F S; Siddique T; Yamaoka L H; Herbstreith M H; Pericak-Vance M A; Secore S L; Hung W Y; Goate A M; Hardy J A
D21S194, a jump clone from D21S16.
Nucleic acids research 1990;18(7):1931.
1990: Iannuzzi M C; Collins F S
Reverse genetics and cystic fibrosis.
American journal of respiratory cell and molecular biology 1990;2(4):309-16.
1990: Donlon T A; Krensky A M; Wallace M R; Collins F S; Lovett M; Clayberger C
Localization of a human T-cell-specific gene, RANTES (D17S136E), to chromosome 17q11.2-q12.
Genomics 1990;6(3):548-53.
1990: Lemna W K; Feldman G L; Kerem B; Fernbach S D; Zevkovich E P; O'Brien W E; Riordan J R; Collins F S; Tsui L C; Beaudet A L
Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis.
The New England journal of medicine 1990;322(5):291-6.
1990: Patel P I; Ledbetter D H; Frances S; Franco B; Wallace M R; Collins F S; Lupski J R
Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251]
Nucleic acids research 1990;18(4):1087.
1990: Gumucio D L; Lockwood W K; Weber J L; Saulino A M; Delgrosso K; Surrey S; Schwartz E; Goodman M; Collins F S
The -175T----C mutation increases promoter strength in erythroid cells: correlation with evolutionary conservation of binding sites for two trans-acting factors.
Blood 1990;75(3):756-61.
1990: Dean M; Drumm M L; Stewart C; Gerrard B; Perry A; Hidaka N; Cole J L; Collins F S; Iannuzzi M C
Approaches to localizing disease genes as applied to cystic fibrosis.
Nucleic acids research 1990;18(2):345-50.
1990: Tanaka M; Nolan J A; Bhargava A K; Rood K; Collins F S; Weissman S M; Forget B G; Chamberlain J W
Expression of human globin genes in transgenic mice carrying the beta-globin gene cluster with a mutation causing G gamma beta + hereditary persistence of fetal hemoglobin.
Annals of the New York Academy of Sciences 1990;612():167-78.
1990: Collins F S
Identifying human disease genes by positional cloning.
Harvey lectures 1990;86():149-64.
1989: Fain P R; Goldgar D E; Wallace M R; Collins F S; Wright E; Nguyen K; Barker D F
Refined physical and genetic mapping of the NF1 region on chromosome 17.
American journal of human genetics 1989;45(5):721-8.
1989: Cremers F P; van de Pol D J; Wieringa B; Collins F S; Sankila E M; Siu V M; Flintoff W F; Brunsmann F; Blonden L A; Ropers H H
Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(19):7510-4.
1989: Merry D E; Lesko J G; Sosnoski D M; Lewis R A; Lubinsky M; Trask B; van den Engh G; Collins F S; Nussbaum R L
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.
American journal of human genetics 1989;45(4):530-40.
1989: Boehnke M; Arnheim N; Li H; Collins F S
Fine-structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm: experimental design considerations.
American journal of human genetics 1989;45(1):21-32.
1989: Collins F S; O'Connell P; Ponder B A; Seizinger B R
Progress towards identifying the neurofibromatosis (NF1) gene.
Trends in genetics : TIG 1989;5(7):217-21.
1989: Fountain J W; Wallace M R; Bruce M A; Seizinger B R; Menon A G; Gusella J F; Michels V V; Schmidt M A; Dewald G W; Collins F S
Physical mapping of a translocation breakpoint in neurofibromatosis.
Science (New York, N.Y.) 1989;244(4908):1085-7.
1989: Iannuzzi M C; Dean M; Drumm M L; Hidaka N; Cole J L; Perry A; Stewart C; Gerrard B; Collins F S
Isolation of additional polymorphic clones from the cystic fibrosis region, using chromosome jumping from D7S8.
American journal of human genetics 1989;44(5):695-703.
1989: Wallace M R; Fountain J W; Brereton A M; Collins F S
Direct construction of a chromosome-specific NotI linking library from flow-sorted chromosomes.
Nucleic acids research 1989;17(4):1665-77.
1989: Stephens K; Green P; Riccardi V M; Ng S; Rising M; Barker D; Darby J K; Falls K M; Collins F S; Willard H F
Genetic analysis of eight loci tightly linked to neurofibromatosis 1.
American journal of human genetics 1989;44(1):13-9.
1989: Collins F S; Ponder B A; Seizinger B R; Epstein C J
The von Recklinghausen neurofibromatosis region on chromosome 17--genetic and physical maps come into focus.
American journal of human genetics 1989;44(1):1-5.
1989: Dean M; Stewart C; Perry A; Gerrard B; Beck T; Rapp U; Drumm M; Iannuzzi M; Collins F; O'Brien S
Genetic markers for oncogenes, growth factors, and cystic fibrosis.
Haematology and blood transfusion 1989;32():360-5.
1989: Gumucio D L; Gray T A; Rood K L; Blanchard K L; Collins F S
Nuclear proteins which bind the human gamma-globin gene.
Progress in clinical and biological research 1989;316A():129-38.
1988: Gumucio D L; Rood K L; Gray T A; Riordan M F; Sartor C I; Collins F S
Nuclear proteins that bind the human gamma-globin gene promoter: alterations in binding produced by point mutations associated with hereditary persistence of fetal hemoglobin.
Molecular and cellular biology 1988;8(12):5310-22.
1988: Iannuzzi M C; Weber J L; Yankaskas J; Boucher R; Collins F S
The introduction of biologically active foreign genes into human respiratory epithelial cells using electroporation.
The American review of respiratory disease 1988;138(4):965-8.
1988: Richards J E; Gilliam T C; Cole J L; Drumm M L; Wasmuth J J; Gusella J F; Collins F S
Chromosome jumping from D4S10 (G8) toward the Huntington disease gene.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(17):6437-41.
1988: Marchuk D; Collins F S
pYAC-RC, a yeast artificial chromosome vector for cloning DNA cut with infrequently cutting restriction endonucleases.
Nucleic acids research 1988;16(15):7743.
1988: Fountain J W; Lockwood W K; Collins F S
Transfection of primary human skin fibroblasts by electroporation.
Gene 1988;68(1):167-72.
1988: Bloch D B; Bloch K D; Iannuzzi M; Collins F S; Neer E J; Seidman J G; Morton C C
The gene for the alpha i1 subunit of human guanine nucleotide binding protein maps near the cystic fibrosis locus.
American journal of human genetics 1988;42(6):884-8.
1988: Roth M S; Collins F S; Ginsburg D
Sizing of the human T cell receptor alpha locus and detection of a large deletion in the Molt-4 cell line.
Blood 1988;71(6):1744-7.
1988: Drumm M L; Smith C L; Dean M; Cole J L; Iannuzzi M C; Collins F S
Physical mapping of the cystic fibrosis region by pulsed-field gel electrophoresis.
Genomics 1988;2(4):346-54.
1988: Butler M G; Fogo A B; Fuchs D A; Collins F S; Dev V G; Phillips J A
Two patients with ring chromosome 15 syndrome.
American journal of medical genetics 1988;29(1):149-54.
1988: Engelke D R; Hoener P A; Collins F S
Direct sequencing of enzymatically amplified human genomic DNA.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(2):544-8.
1987: Stephens K; Riccardi V M; Rising M; Ng S; Green P; Collins F S; Rediker K S; Powers J A; Parker C; Donis-Keller H
Linkage studies with chromosome 17 DNA markers in 45 neurofibromatosis 1 families.
Genomics 1987;1(4):353-7.
1987: Collins F S; Cole J L; Lockwood W K; Iannuzzi M C
The deletion in both common types of hereditary persistence of fetal hemoglobin is approximately 105 kilobases.
Blood 1987;70(6):1797-803.
1987: Seashore J H; Collins F S; Markowitz R I; Seashore M R
Familial apple peel jejunal atresia: surgical, genetic, and radiographic aspects.
Pediatrics 1987;80(4):540-4.
1987: Diehl S R; Boehnke M; Collins F S; Erickson R P; Karolyi I J; Ploughman L M; Pericak-Vance M A; Aylsworth A S; Roses A D
Linkage analysis of peripheral neurofibromatosis to DNA markers on chromosome 8.
Journal of medical genetics 1987;24(9):532-4.
1987: Konkle B A; Kim S; Iannuzzi M C; Alani R; Collins F S; Ginsburg D
SacI RFLP in the human von Willebrand factor gene.
Nucleic acids research 1987;15(16):6766.
1987: Iannuzzi M C; Konkle B A; Ginsburg D; Collins F S
RsaI RFLP in the human von Willebrand factor gene.
Nucleic acids research 1987;15(14):5909.
1987: Treisman J; Collins F S
Adult Turner syndrome associated with chylous ascites and vascular anomalies.
Clinical genetics 1987;31(4):218-23.
1987: Collins F S; Drumm M L; Cole J L; Lockwood W K; Vande Woude G F; Iannuzzi M C
Construction of a general human chromosome jumping library, with application to cystic fibrosis.
Science (New York, N.Y.) 1987;235(4792):1046-9.
1987: Shows T B; McAlpine P J; Boucheix C; Collins F S; Conneally P M; Frézal J; Gershowitz H; Goodfellow P N; Hall J G; Issitt P; Jones C A; Knowles B B; Lewis M; McKusick V A; Meisler M; Morton N E; Rubenstein P; Schanfield M S; Schmickel R D; Skolnick M H; Spence M A; Sutherland G R; Traver M; Van Cong N; Willard H F
Guidelines for human gene nomenclature. An international system for human gene nomenclature (ISGN, 1987).
Cytogenetics and cell genetics 1987;46(1-4):11-28.
1987: Smith C L; Lawrance S K; Gillespie G A; Cantor C R; Weissman S M; Collins F S
Strategies for mapping and cloning macroregions of mammalian genomes.
Methods in enzymology 1987;151():461-89.
1986: Metherall J E; Collins F S; Pan J; Weissman S M; Forget B G
Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron.
The EMBO journal 1986;5(10):2551-7.
1986: Waber P G; Bender M A; Gelinas R E; Kattamis C; Karaklis A; Sofroniadou K; Stamatoyannopoulos G; Collins F S; Forget B G; Kazazian H H
Concordance of a point mutation 5' to the A gamma-globin gene with A gamma beta + hereditary persistence of fetal hemoglobin in Greeks.
Blood 1986;67(2):551-4.
1986: Lawrence S K; Srivastava R; Rigas B; Chorney M J; Gillespie G A; Smith C L; Cantor C R; Collins F S; Weissman S M
Molecular approaches to the characterization of megabase regions of DNA: applications to the human major histocompatibility complex.
Cold Spring Harbor symposia on quantitative biology 1986;51 Pt 1():123-30.
1985: Collins F S; Metherall J E; Yamakawa M; Pan J; Weissman S M; Forget B G
A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin.
Nature 1985;313(6000):325-6.
1985: Feingold E A; Collins F S; Metherall J E; Stoeckert C J; Weissman S M; Forget B G
Analysis of mutations associated with deletion and nondeletion hereditary persistence of fetal hemoglobin.
Progress in clinical and biological research 1985;191():107-24.
1985: Feingold E A; Collins F S; Metherall J E; Stoeckert C J; Weissman S M; Forget B G
Molecular analysis of deletion and nondeletion hereditary persistence of fetal hemoglobin and identification of a new mutation causing beta-thalassemia.
Annals of the New York Academy of Sciences 1985;445():159-69.
1984: Collins F S; Boehm C D; Waber P G; Stoeckert C J; Weissman S M; Forget B G; Kazazian H H
Concordance of a point mutation 5' to the G gamma globin gene with G gamma beta +. Hereditary persistence of fetal hemoglobin in the black population.
Blood 1984;64(6):1292-6.
1984: Collins F S; Weissman S M
Directional cloning of DNA fragments at a large distance from an initial probe: a circularization method.
Proceedings of the National Academy of Sciences of the United States of America 1984;81(21):6812-6.
1984: Collins F S; Stoeckert C J; Serjeant G R; Forget B G; Weissman S M
G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene.
Proceedings of the National Academy of Sciences of the United States of America 1984;81(15):4894-8.
1984: Jennings T A; Duray P H; Collins F S; Sabetta J; Enzinger F M
Infantile myofibromatosis. Evidence for an autosomal-dominant disorder.
The American journal of surgical pathology 1984;8(7):529-38.
1984: Stoeckert C J; Collins F S; Weissman S M
Human fetal globin DNA sequences suggest novel conversion event.
Nucleic acids research 1984;12(11):4469-79.
1984: Collins F S; Weissman S M
The molecular genetics of human hemoglobin.
Progress in nucleic acid research and molecular biology 1984;31():315-462.
1983: Collins F S; Mahoney M J
Hydrocephalus and abnormal digits after failed first-trimester prostaglandin abortion attempt.
The Journal of pediatrics 1983;102(4):620-1.
1982: Collins F S; Orringer E P
Pulmonary hypertension and cor pulmonale in the sickle hemoglobinopathies.
The American journal of medicine 1982;73(6):814-21.
1980: Collins F S; Summer G K; Schwartz R P; Parke J C
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management.
The Journal of pediatrics 1980;96(3 Pt 1):429-31.
1978: Collins F S; Summer G K
Determination of glutamine and glutamine acid in biological fluids by gas chromatography.
Journal of chromatography 1978;145(3):456-63.

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