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James Gusella

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Salil A Lachke; Jun Miyoshi; Quynh T Duong; Irfan Saadi; Bradley J Quade; Atsuko Fujimoto; Yoshimi Takai; Irit Shapira; Michael E Talkowski; Michael L Robinson; Anne W Higgins; Qiongchao Xi; Maiko Inagaki; Michelle Long; Benny Motro; Ying Yang; Cynthia C Morton; James Gusella; Richard L Maas
The cell adhesion gene PVRL3 is associated with congenital ocular defects.
Elisa Fossale; James Gusella; Isaac S Kohane; Marcy E MacDonald; Ihn Sik Seong; Toshi Shioda; Vanessa C Wheeler; Kathryn R Coser; Jong-Min Lee
Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative.
Michael E Talkowski; Devon Lamb Thrush; Margot I Van Allen; Bregje W M van Bon; Charles A Williams; Bai-Lin Wu; Lilei Zhang; Lesley C Ades; Yu An; Caroline Astbury; Dennis Bartholomew; Louise A Brueton; Colby Chiang; Bert B A de Vries; Carl Ernst; Marco Fichera; Julie M Gastier-Foster; James Gusella; Carrie Hanscom; Jeffrey W Innis; Sekar Kathiresan; Klaske D Lichtenbelt; Amelia M Lindgren; Cynthia C Morton; Sureni V Mullegama; Aditi Parikh; Robert E Pyatt; Elena A Repnikova; Corrado Romano; Jill A Rosenfeld; Douglas M Ruderfer; Stuart Schwartz; Lisa G Shaffer; Yiping Shen; Sarah H Elsea
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

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All Publications

2012: Salil A Lachke; Jun Miyoshi; Quynh T Duong; Irfan Saadi; Bradley J Quade; Atsuko Fujimoto; Yoshimi Takai; Irit Shapira; Michael E Talkowski; Michael L Robinson; Anne W Higgins; Qiongchao Xi; Maiko Inagaki; Michelle Long; Benny Motro; Ying Yang; Cynthia C Morton; James Gusella; Richard L Maas
The cell adhesion gene PVRL3 is associated with congenital ocular defects.
Human genetics 2012;131(2):235-50.
2011: Elisa Fossale; James Gusella; Isaac S Kohane; Marcy E MacDonald; Ihn Sik Seong; Toshi Shioda; Vanessa C Wheeler; Kathryn R Coser; Jong-Min Lee
Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative.
Human molecular genetics 2011;20(21):4258-67.
2011: Michael E Talkowski; Devon Lamb Thrush; Margot I Van Allen; Bregje W M van Bon; Charles A Williams; Bai-Lin Wu; Lilei Zhang; Lesley C Ades; Yu An; Caroline Astbury; Dennis Bartholomew; Louise A Brueton; Colby Chiang; Bert B A de Vries; Carl Ernst; Marco Fichera; Julie M Gastier-Foster; James Gusella; Carrie Hanscom; Jeffrey W Innis; Sekar Kathiresan; Klaske D Lichtenbelt; Amelia M Lindgren; Cynthia C Morton; Sureni V Mullegama; Aditi Parikh; Robert E Pyatt; Elena A Repnikova; Corrado Romano; Jill A Rosenfeld; Douglas M Ruderfer; Stuart Schwartz; Lisa G Shaffer; Yiping Shen; Sarah H Elsea
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
American journal of human genetics 2011;89(4):551-63.
2011: Sébastien Jacquemont; Sylvie Jaillard; Zdenek Jaros; Marjo-Riitta Jarvelin; Susana Jiménez-Murcia; Philippe Jonveaux; Satu Kaksonen; Boris Keren; Anita Kloss-Brandstätter; Nine V A M Knoers; David A Koolen; Peter M Kroisel; Florian Kronenberg; Ants Kurg; Zoltan Kutalik; Audrey Labalme; Emilie Landais; Elisabetta Lapi; Valérie Layet; Cédric Le Caignec; Solenn Legallic; Bruno Leheup; Barbara Leube; Suzanne Lewis; Josette Lucas; Kay D MacDermot; Pall Magnusson; Katrin Männik; Christian Marshall; Danielle Martinet; Michèle Mathieu-Dramard; Mark I McCarthy; Thomas Meitinger; Giuseppe Merla; Andres Metspalu; Alexandre Moerman; Vincent Mooser; Fanny Morice-Picard; Mafalda Mucciolo; Matthias Nauck; Ann Nordgren; Laurent Pasquier; Florence Petit; Rolph Pfundt; Orah S Platt; Ghislaine Plessis; Evica Rajcan-Separovic; Anita Rauch; Roberto Ravazzolo; Andre Reis; Alessandra Renieri; Alexandre Reymond; Cristobal Richart; Janina S Ried; Claudine Rieubland; Wendy Roberts; Katharina M Roetzer; Caroline Rooryck; Massimiliano Rossi; Evald Saemundsen; Damien Sanlaville; Véronique Satre; Stephen W Scherer; Claudia Schurmann; Yiping Shen; Engilbert Sigurdsson; Dimitri J Stavropoulos; Hreinn Stefansson; Kari Stefansson; Carola Tengström; Gudmar Thorleifsson; Unnur Thorsteinsdóttir; Francisco J Tinahones; Renaud Touraine; Louis Vallée; Armand Valsesia; Ellen van Binsbergen; Nathalie Van der Aa; Mieke M Van Haelst; Sergi Villatoro Gomez; Catherine Vincent-Delorme; Sophie Visvikis-Siest; Peter Vollenweider; Henry Völzke; Anneke T Vulto-van Silfhout; Gérard Waeber; Faida Walha; Carina Wallgren-Pettersson; Robin G Walters; Robert M Witwicki; Bai-Lin Wu; Yongguo Yu; Flore Zufferey; Simon Zwolinksi; Géraldine Joly Helas; R Frank Kooy; Maria Antonietta Mencarelli; Ndeye Coumba Ndiaye; Gian Paolo Ramelli; Azzedine Aboura; Marie-Claude Addor; Yves Alembik; Joris Andrieux; Stylianos E Antonarakis; Benoît Arveiler; Magalie Barth; Jacques Beckmann; Noam D Beckmann; Nathalie Bednarek; Marco Belfiore; Frédérique Béna; Sven Bergmann; Mylène Beri; Laura Bernardini; Alexandra I F Blakemore; Bettina Blaumeiser; Dominique Bonneau; Armand Bottani; Sonia Bouquillon; Odile Boute; Han G Brunner; Dorothée Cailley; Patrick Callier; Dominique Campion; Jean Chiesa; Jacqueline Chrast; Lachlan Coin; Charles Coutton; Jean-Marie Cuisset; Jean-Christophe Cuvellier; Albert David; Bénédicte de Freminville; Nicole de Leeuw; Bert B A de Vries; Bruno Delobel; Marie-Ange Delrue; Bénédicte Demeer; Dominique Descamps; Gérard Didelot; Klaus Dieterich; Vittoria Disciglio; Martine Doco-Fenzy; Séverine Drunat; Bénédicte Duban-Bedu; Christèle Dubourg; Paul Elliott; Julia S El-Sayed Moustafa; Tõnu Esko; Xavier Estivill; Brigitte H W Faas; Laurence Faivre; Anne Faudet; Florence Fellmann; Bridget A Fernandez; Fernando Fernández-Aranda; José Manuel Fernández-Real; Alessandra Ferrarini; Richard Fisher; Elisabeth Flori; Lukas Forer; Dominique Gaillard; Marion Gerard; Christian Gieger; Giorgio Gimelli; Stefania Gimelli; Hans J Grabe; Mònica Gratacòs; Agnès Guichet; Olivier Guillin; Audrey Guilmatre; James Gusella; Omar Gustafsson; Louise Harewood; Anna-Liisa Hartikainen; Délphine Heron; Loyse Hippolyte; Muriel Holder; Georg Homuth; Juliane Hoyer; Bertrand Isidor; Philippe Froguel
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Nature 2011;478(7367):97-102.
2011: Yongguo Yu; Haitao Zhu; James Gusella; David T Miller; Orah S Platt; Yiping Shen; Bai-Lin Wu
Age- and gender-dependent obesity in individuals with 16p11.2 deletion.
Journal of genetics and genomics = Yi chuan xue bao 2011;38(9):403-9.
2011: Jeanne C Latourelle; Richard H Myers; William C Nichols; Nathan Pankratz; Jemma B Wilk; Anita L DeStefano; Tatiana Foroud; James Gusella; Cheryl A Halter; Audrey E Hendricks
Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2011;26(11):2039-44.
2011: Jessie C Jacobsen; Isaac S Kohane; Kathryn R Coser; Gillian C Gregory; James Gusella; Marcy E MacDonald; Vidya Murthy; Ihn Sik Seong; Toshi Shioda; Morgan N Thompson; Juliana M Woda; Jong-Min Lee
HD CAG-correlated gene expression changes support a simple dominant gain of function.
Human molecular genetics 2011;20(14):2846-60.
2011: Michael E Talkowski; Carl Ernst; Adrian Heilbut; Colby Chiang; Carrie Hanscom; Amelia Lindgren; Andrew Kirby; Shangtao Liu; Bhavana Muddukrishna; Toshiro K Ohsumi; Yiping Shen; Mark Borowsky; Mark J Daly; Cynthia C Morton; James Gusella
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
American journal of human genetics 2011;88(4):469-81.
2011: Michael A Myre; Amanda L Lumsden; Morgan N Thompson; Wilma Wasco; Marcy E MacDonald; James Gusella
Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum.
PLoS genetics 2011;7(4):e1002052.
2011: Yiping Shen; Xiaoli Chen; Liwen Wang; Jin Guo; Jianliang Shen; Yu An; Haitao Zhu; Yanli Zhu; Ruolei Xin; Yihua Bao; James Gusella; Ting Zhang; Bai-Lin Wu
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011;156(2):225-32.
2011: Natalie D Shaw; Stephanie B Seminara; Corrine K Welt; Margaret G Au; Lacey Plummer; Virginia A Hughes; Andrew A Dwyer; Kathryn A Martin; Richard Quinton; Veronica Mericq; Paulina M Merino; James Gusella; William F Crowley; Nelly Pitteloud; Janet E Hall
Expanding the phenotype and genotype of female GnRH deficiency.
The Journal of clinical endocrinology and metabolism 2011;96(3):E566-76.
2011: Vishal M Gohil; Nicolas Offner; James A Walker; Sunil A Sheth; Elisa Fossale; James Gusella; Marcy E MacDonald; Christian Neri; Vamsi K Mootha
Meclizine is neuroprotective in models of Huntington's disease.
Human molecular genetics 2011;20(2):294-300.
2011: Noriko Wakabayashi-Ito; Hideaki Moriyama; Janis M O'Donnell; Xandra O Breakefield; Olugbenga M Doherty; James Gusella; Naoto Ito
Dtorsin, the Drosophila ortholog of the early-onset dystonia TOR1A (DYT1), plays a novel role in dopamine metabolism.
PloS one 2011;6(10):e26183.
2011: Nathan Pankratz; Mei Sun; Jemma B Wilk; Anita L DeStefano; Kimberly F Doheny; Alexandra Dumitriu; Tatiana Foroud; James Gusella; Cheryl A Halter; Kurt N Hetrick; Jeanne C Latourelle; Richard H Myers; William C Nichols
Copy number variation in familial Parkinson disease.
PloS one 2011;6(8):e20988.
2010: Hyung-Goo Kim; Jang-Won Ahn; Ingo Kurth; Reinhard Ullmann; Hyun-Taek Kim; Anita S Kulharya; Kyung-Soo Ha; Yasuhide Itokawa; Irene Meliciani; Wolfgang Wenzel; Deresa Lee; Georg Rosenberger; metin ozata; David P Bick; Richard J Sherins; Takahiro Nagase; Mustafa Tekin; Soo-Hyun Kim; Cheol-Hee Kim; Hans-Hilger Ropers; James Gusella; Vera Kalscheuer; Cheol Yong Choi; Lawrence C Layman
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
American journal of human genetics 2010;87(4):465-79.
2010: Gerasimos P Sykiotis; Lacey Plummer; Virginia A Hughes; Margaret Au; Sadia Durrani; Sadhana Nayak-Young; Andrew A Dwyer; Richard Quinton; Janet E Hall; James Gusella; Stephanie B Seminara; William F Crowley; Nelly Pitteloud
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(34):15140-4.
2010: Michael S L Ching; Yiping Shen; Wen-Hann Tan; Shafali S Jeste; Eric M Morrow; Xiaoli Chen; Nahit M Mukaddes; Seung-Yun Yoo; Ellen Hanson; Rachel Hundley; Christina Austin; Ronald E Becker; Gerard T Berry; Katherine Driscoll; Elizabeth C Engle; Sandra Friedman; James Gusella; Fuki M Hisama; Mira B Irons; Tina Lafiosca; Elaine LeClair; David T Miller; Michael Neessen; Jonathan D Picker; Leonard Rappaport; Cynthia M Rooney; Dean P Sarco; Joan M Stoler; Christopher Walsh; Robert R Wolff; Ting Zhang; Ramzi H Nasir; Bai-Lin Wu
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010;153B(4):937-47.
2010: Jessie C Jacobsen; C Simon Bawden; Skye R Rudiger; Clive J McLaughlan; Suzanne J Reid; Henry J Waldvogel; Marcy E MacDonald; James Gusella; Simon K Walker; Jennifer M Kelly; Graham C Webb; Richard L M Faull; Mark I Rees; Russell G Snell
An ovine transgenic Huntington's disease model.
Human molecular genetics 2010;19(10):1873-82.
2010: Roy H Perlis; Jordan W Smoller; Jayalakshmi Mysore; Mei Sun; Tammy Gillis; Shaun Purcell; Marcella Rietschel; Markus M Nöthen; Stephanie Witt; Wolfgang Maier; Dan V Iosifescu; Patrick Sullivan; A John Rush; Maurizio Fava; Hans C Breiter; Marcy E MacDonald; James Gusella
Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder.
The American journal of psychiatry 2010;167(5):574-9.
2010: Carl Ernst; Cynthia C Morton; James Gusella
Self-injurious behaviours in people with and without intellectual delay: implications for the genetics of suicide.
The international journal of neuropsychopharmacology / official scientific journal of the Collegium Internationale Neuropsychopharmacologicum (CINP) 2010;13(4):527-8.
2010: Yiping Shen; Kira A Dies; Ingrid A Holm; Carolyn Bridgemohan; Magdi M Sobeih; Elizabeth B Caronna; Karen J Miller; Jean A Frazier; Iris Silverstein; Jonathan Picker; Laura Weissman; Peter Raffalli; Shafali Jeste; Laurie A Demmer; Heather K Peters; Stephanie J Brewster; Sara J Kowalczyk; Beth Rosen-Sheidley; Caroline McGowan; Andrew W Duda; Sharyn A Lincoln; Kathryn R Lowe; Alison Schonwald; Michael Robbins; Fuki Hisama; Robert Wolff; Ronald Becker; Ramzi Nasir; David K Urion; Jeff M Milunsky; Leonard Rappaport; James Gusella; Christopher Walsh; Bai-Lin Wu; David T Miller
Clinical genetic testing for patients with autism spectrum disorders.
Pediatrics 2010;125(4):e727-35.
2010: Lee Kaplan; Rosemary Foster; Yiping Shen; Dilys M Parry; Mary L McMaster; Melanie Collins O'Leary; James Gusella
Monozygotic twins discordant for neurofibromatosis 1.
American journal of medical genetics. Part A 2010;152A(3):601-6.
2010: Sami Gritli; Mamia Ben Salah; Abdessalem Shili; Caroline D Robson; Mohamed Ferjaoui; Lotfi Hendaoui; Ali Belhani; Sarrah Baltagi-Ben Jilani; James Gusella; Calum A MacRae
Association of the long QT syndrome With goiter and deafness.
The American journal of cardiology 2010;105(5):681-6.
2010: Yiping Shen; Bai-Lin Wu; James Gusella
Large-scale medical resequencing for X-linked mental retardation.
Clinical chemistry 2010;56(3):339-41.
2010: Ihn Sik Seong; Juliana M Woda; Ji-Joon Song; Alejandro Lloret; Priyanka D Abeyrathne; Caroline J Woo; Gillian Gregory; Jong-Min Lee; Vanessa C Wheeler; Thomas Walz; Robert E Kingston; James Gusella; Ronald A Conlon; Marcy E MacDonald
Huntingtin facilitates polycomb repressive complex 2.
Human molecular genetics 2010;19(4):573-83.
2010: Alessandro Biffi; Anna Plourde; Yiping Shen; Robert Onofrio; Eric E Smith; Matthew Frosch; Claudia M Prada; James Gusella; Steven M Greenberg; Jonathan Rosand
Screening for familial APP mutations in sporadic cerebral amyloid angiopathy.
PloS one 2010;5(11):e13949.
2010: Jong-Min Lee; Jie Zhang; Andrew I Su; John R Walker; Tim Wiltshire; Kihwa Kang; Ella Dragileva; Tammy Gillis; Edith T Lopez; Marie-Josee Boily; Michel Cyr; Isaac Kohane; James Gusella; Marcy E MacDonald; Vanessa C Wheeler
A novel approach to investigate tissue-specific trinucleotide repeat instability.
BMC systems biology 2010;4():29.
2009: Okay Saydam; Yiping Shen; Thomas Würdinger; Ozlem Senol; Elvan Boke; Marianne F James; Bakhos A Tannous; Anat Stemmer-Rachamimov; Ming Yi; Robert M Stephens; Cornel Fraefel; James Gusella; Anna M Krichevsky; Xandra O Breakefield
Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway.
Molecular and cellular biology 2009;29(21):5923-40.
2009: William F Crowley; James Gusella
Changing models of biomedical research.
Science translational medicine 2009;1(1):1cm1.
2009: Gregory P Gasic; J W Smoller; R H Perlis; M Sun; S Lee; B W Kim; M J Lee; D J Holt; A J Blood; Nikos Makris; D K Kennedy; R D Hoge; J Calhoun; M Fava; James Gusella; Hans C Breiter
BDNF, relative preference, and reward circuitry responses to emotional communication.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(6):762-81.
2009: Marianne F James; Sangyeul Han; Carolyn Polizzano; Scott R Plotkin; Brendan D Manning; Anat Stemmer-Rachamimov; James Gusella; Vijaya Ramesh
NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth.
Molecular and cellular biology 2009;29(15):4250-61.
2009: Audrey E Hendricks; Jeanne C Latourelle; Kathryn L Lunetta; L Adrienne Cupples; Vanessa Wheeler; Marcy E MacDonald; James Gusella; Richard H Myers
Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).
American journal of medical genetics. Part A 2009;149A(7):1375-81.
2009: D T Miller; Y Shen; Lauren A Weiss; J Korn; I Anselm; C Bridgemohan; G F Cox; H Dickinson; J Gentile; D J Harris; V Hegde; R Hundley; O Khwaja; S Kothare; C Luedke; R Nasir; A Poduri; K Prasad; P Raffalli; A Reinhard; S E Smith; M M Sobeih; J S Soul; J Stoler; M Takeoka; W-H Tan; J Thakuria; R Wolff; R Yusupov; James Gusella; Mark J Daly; B-L Wu
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
Journal of medical genetics 2009;46(4):242-8.
2009: Jeanne C Latourelle; Nathan Pankratz; Alexandra Dumitriu; Jemma B Wilk; Stefano Goldwurm; Gianni Pezzoli; Claudio B Mariani; Anita L DeStefano; Cheryl Halter; James Gusella; William C Nichols; Richard H Myers; Tatiana Foroud
Genomewide association study for onset age in Parkinson disease.
BMC medical genetics 2009;10():98.
2009: James Gusella; Marcy E MacDonald
Huntington's disease: the case for genetic modifiers.
Genome medicine 2009;1(8):80.
2009: Yiping Shen; Fabio Nunes; Anat Stemmer-Rachamimov; Marianne James; Gayatry Mohapatra; Scott Plotkin; Rebecca A Betensky; David A Engler; Jennifer Roy; Vijaya Ramesh; James Gusella
Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas.
BMC medical genomics 2009;2():42.
2009: Jennifer LaFemina; Penelope A Roberts; Yin P Hung; James Gusella; Dushyant Sahani; Carlos Fernández-del Castillo; Andrew L Warshaw; Sarah P Thayer
Identification of a novel kindred with familial pancreatitis and pancreatic cancer.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2009;9(3):273-9.
2009: Nathan Pankratz; Jemma B Wilk; Jeanne C Latourelle; Anita L DeStefano; Cheryl Halter; Elizabeth W Pugh; Kimberly F Doheny; James Gusella; William C Nichols; Tatiana Foroud; Richard H Myers
Genomewide association study for susceptibility genes contributing to familial Parkinson disease.
Human genetics 2009;124(6):593-605.
2008: Mary McQueen; Mia MacCollin; James Gusella; Scott R Plotkin
Patient and physician attitudes regarding clinical trials in neurofibromatosis 1.
The Journal of neuroscience nursing : journal of the American Association of Neuroscience Nurses 2008;40(6):341-5.
2008: Hyung-Goo Kim; Ingo Kurth; Fei Lan; Irene Meliciani; Wolfgang Wenzel; Soo Hyun Eom; Gil Bu Kang; Georg Rosenberger; Mustafa Tekin; metin ozata; David P Bick; Richard J Sherins; Steven L Walker; Yang Shi; James Gusella; Lawrence C Layman
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
American journal of human genetics 2008;83(4):511-9.
2008: Christopher F McNicoll; Jeanne C Latourelle; Marcy E MacDonald; Mark F Lew; Oksana Suchowersky; Christine Klein; Lawrence I Golbe; Margery H Mark; John H Growdon; G Frederick Wooten; Ray L Watts; Mark Guttman; Brad A Racette; Joel S Perlmutter; Anwar Ahmed; Holly A Shill; Carlos Singer; Marie H Saint-Hilaire; Tiffany Massood; Karen W Huskey; Anita L DeStefano; Tammy Gillis; Jayalakshmi Mysore; Stefano Goldwurm; Gianni Pezzoli; Kenneth B Baker; Ilia Itin; Irene Litvan; Garth Nicholson; Alastair Corbett; Martha Nance; Edward Drasby; Stuart Isaacson; David J Burn; Patrick F Chinnery; Peter P Pramstaller; Jomana Al-Hinti; Anette T Moller; Karen Ostergaard; Scott J Sherman; Richard Roxburgh; Barry Snow; John T Slevin; Franca Cambi; James Gusella; Richard H Myers
Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.
Movement disorders : official journal of the Movement Disorder Society 2008;23(11):1596-601.
2008: Roy H Perlis; Daphne J Holt; Jordan W Smoller; Anne J Blood; Sang Lee; Byoung Woo Kim; Myung Joo Lee; Mei Sun; Nikos Makris; David K Kennedy; Kathryn Rooney; Darin D Dougherty; Rick Hoge; Jerrold F Rosenbaum; Maurizio Fava; James Gusella; Gregory P Gasic; Hans C Breiter
Association of a polymorphism near CREB1 with differential aversion processing in the insula of healthy participants.
Archives of general psychiatry 2008;65(8):882-92.
2008: Anita L DeStefano; Jeanne Latourelle; Mark F Lew; Oksana Suchowersky; Christine Klein; Lawrence I Golbe; Margery H Mark; John H Growdon; G Fredrick Wooten; Ray L Watts; Mark Guttman; Brad A Racette; Joel S Perlmutter; Lynn Marlor; Holly A Shill; Carlos Singer; Stefano Goldwurm; Gianni Pezzoli; Marie H Saint-Hilaire; Audrey E Hendricks; Adam Gower; Sally Williamson; Michael W Nagle; Jemma B Wilk; Tiffany Massood; Karen W Huskey; Kenneth B Baker; Ilia Itin; Irene Litvan; Garth Nicholson; Alastair Corbett; Martha Nance; Edward Drasby; Stuart Isaacson; David J Burn; Patrick F Chinnery; Peter P Pramstaller; Jomana Al-Hinti; Anette T Moller; Karen Ostergaard; Scott J Sherman; Richard Roxburgh; Barry Snow; John T Slevin; Franca Cambi; James Gusella; Richard H Myers
Replication of association between ELAVL4 and Parkinson disease: the GenePD study.
Human genetics 2008;124(1):95-9.
2008: J E Tobin; J C Latourelle; M F Lew; Christine Klein; O Suchowersky; H A Shill; Lawrence I Golbe; M H Mark; John H Growdon; G F Wooten; B A Racette; J S Perlmutter; Ray L Watts; M Guttman; K B Baker; S Goldwurm; G Pezzoli; Carlos Singer; M H Saint-Hilaire; A E Hendricks; S Williamson; M W Nagle; J B Wilk; T Massood; J M Laramie; A L DeStefano; I Litvan; G Nicholson; A Corbett; S Isaacson; David J Burn; P F Chinnery; P P Pramstaller; S Sherman; J Al-hinti; E Drasby; M Nance; A T Moller; K Ostergaard; R Roxburgh; B Snow; J T Slevin; F Cambi; James Gusella; Richard H Myers
Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.
Neurology 2008;71(1):28-34.
2008: Leanne M Dibbens; Patrick S Tarpey; Kim Hynes; Marta A Bayly; Ingrid E Scheffer; Raffaella Smith; Jamee Bomar; Edwina Sutton; Lucianne Vandeleur; Cheryl Shoubridge; Sarah Edkins; Samantha J Turner; Claire Stevens; Sarah O'Meara; Calli Tofts; Syd Barthorpe; Gemma Buck; Jennifer Cole; Kelly Halliday; David Jones; Rebecca Lee; Mark Madison; Tatiana Mironenko; Jennifer Varian; Sofie West; Sara Caroline Widaa; Paul Wray; John Teague; Ed Dicks; Adam Butler; Andrew Menzies; Andrew Jenkinson; Rebecca Shepherd; James Gusella; Zaid Afawi; Aziz Mazarib; Miriam Y Neufeld; Sara Kivity; Dorit Lev; Tally Lerman-Sagie; Amos D Korczyn; Christopher P Derry; Grant R Sutherland; Kathryn Friend; Marie Shaw; Mark Corbett; Hyung-Goo Kim; Daniel Geschwind; Paul Thomas; Eric Haan; Stephen Ryan; Shane McKee; Samuel F Berkovic; P Andrew Futreal; Michael R Stratton; John C Mulley; Jozef Gecz
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Nature genetics 2008;40(6):776-81.
2008: Anne W Higgins; Fowzan S Alkuraya; Amy F Bosco; Kerry K Brown; Gail A P Bruns; Diana J Donovan; Robert Eisenman; Yanli Fan; Chantal G Farra; Heather L Ferguson; James Gusella; David J Harris; Steven R Herrick; Chantal Kelly; Hyung-Goo Kim; Shotaro Kishikawa; Bruce Korf; Shashikant Kulkarni; Eric Lally; Natalia T Leach; Emma Lemyre; Janine Lewis; Azra H Ligon; Weining Lu; Richard L Maas; Marcy E MacDonald; Steven D P Moore; Roxanna E Peters; Bradley J Quade; Fabiola Quintero-Rivera; Irfan Saadi; Yiping Shen; Jay Shendure; Robin E Williamson; Cynthia C Morton
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.
American journal of human genetics 2008;82(3):712-22.
2008: Lauren A Weiss; Yiping Shen; Joshua M Korn; Dan E Arking; David T Miller; Ragnheidur Fossdal; Evald Saemundsen; Hreinn Stefansson; Manuel A R Ferreira; Todd Green; Orah S Platt; Douglas M Ruderfer; Christopher Walsh; David Altshuler; Aravinda Chakravarti; Rudolph E Tanzi; Kari Stefansson; Susan L Santangelo; James Gusella; Pamela Sklar; Bai-Lin Wu; Mark J Daly
Association between microdeletion and microduplication at 16p11.2 and autism.
The New England journal of medicine 2008;358(7):667-75.
2008: Marianne F James; Johanna M Lelke; Mia MacCollin; Scott R Plotkin; Anat Stemmer-Rachamimov; Vijaya Ramesh; James Gusella
Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth.
Neurobiology of disease 2008;29(2):278-92.
2008: Jeanne C Latourelle; Mei Sun; Mark F Lew; Oksana Suchowersky; Christine Klein; Lawrence I Golbe; Margery H Mark; John H Growdon; G Frederick Wooten; Ray L Watts; Mark Guttman; Brad A Racette; Joel S Perlmutter; Anwar Ahmed; Holly A Shill; Carlos Singer; Stefano Goldwurm; Gianni Pezzoli; Michela Zini; Marie H Saint-Hilaire; Audrey E Hendricks; Sally Williamson; Michael W Nagle; Jemma B Wilk; Tiffany Massood; Karen W Huskey; Jason M Laramie; Anita L DeStefano; Kenneth B Baker; Ilia Itin; Irene Litvan; Garth Nicholson; Alastair Corbett; Martha Nance; Edward Drasby; Stuart Isaacson; David J Burn; Patrick F Chinnery; Peter P Pramstaller; Jomana Al-hinti; Anette T Moller; Karen Ostergaard; Scott J Sherman; Richard Roxburgh; Barry Snow; John T Slevin; Franca Cambi; James Gusella; Richard H Myers
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.
BMC medicine 2008;6():32.
2008: Hyung-Goo Kim; Shotaro Kishikawa; Anne W Higgins; Ihn Sik Seong; Diana J Donovan; Yiping Shen; Eric Lally; Lauren A Weiss; Juliane Najm; Kerstin Kutsche; Maria Descartes; Lynn Holt; Stephen Braddock; Robin Troxell; Lee Kaplan; Fred Volkmar; Ami Klin; Katherine Tsatsanis; David J Harris; Ilse Noens; David L Pauls; Mark J Daly; Marcy E MacDonald; Cynthia C Morton; Bradley J Quade; James Gusella
Disruption of neurexin 1 associated with autism spectrum disorder.
American journal of human genetics 2008;82(1):199-207.
2007: James Gusella; Marcy E MacDonald
Expanding the notion of disease in Huntington's disease.
Biological psychiatry 2007;62(12):1340.
2007: Yiping Shen; Mira Irons; David T Miller; Sau Wai Cheung; Va Lip; Xiaoming Sheng; Keith Tomaszewicz; Hong Shao; Hong Fang; Hung Siv Tang; Mira Irons; Christopher Walsh; Orah Platt; James Gusella; Bai-Lin Wu
Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.
Clinical chemistry 2007;53(12):2051-9.
2007: Benjamin Abo-Dalo; Hyung-Goo Kim; Melanie Roes; Margarita Stefanova; Anne Higgins; Yiping Shen; Stefan Mundlos; Bradley J Quade; James Gusella; Kerstin Kutsche
Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.
American journal of medical genetics. Part A 2007;143A(22):2668-74.
2007: Kim S Beyer; Roberta L Beauchamp; Ming-Fen Lee; James Gusella; Anders M Näär; Vijaya Ramesh
Mediator subunit MED28 (Magicin) is a repressor of smooth muscle cell differentiation.
The Journal of biological chemistry 2007;282(44):32152-7.
2007: Vanessa C Wheeler; Francesca Persichetti; S M McNeil; Jayalakshmi Mysore; S S Mysore; Marcy E MacDonald; Richard H Myers; James Gusella; Nancy S Wexler
Factors associated with HD CAG repeat instability in Huntington disease.
Journal of medical genetics 2007;44(11):695-701.
2007: Matthew M Hims; Ranjit S Shetty; James Pickel; James Mull; Maire Leyne; Lijuan Liu; James Gusella; Susan A Slaugenhaupt
A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.
Genomics 2007;90(3):389-96.
2007: Jong-Min Lee; Elena V Ivanova; Ihn Sik Seong; Tanya Cashorali; Isaac Kohane; James Gusella; Marcy E MacDonald
Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism.
PLoS genetics 2007;3(8):e135.
2007: Fabiola Quintero-Rivera; Natalia T Leach; Albert de La Chapelle; James Gusella; Cynthia C Morton; David J Harris
Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes?
American journal of medical genetics. Part A 2007;143A(15):1796-8.
2007: Weining Lu; Fabiola Quintero-Rivera; Yanli Fan; Fowzan S Alkuraya; Diana J Donovan; Qiongchao Xi; Annick Turbe-Doan; Qing-Gang Li; Craig G Campbell; Alan L Shanske; Elliott H Sherr; Ayesha Ahmad; Roxana Peters; Bénédict Rilliet; Paloma Parvex; Alexander G Bassuk; David J Harris; Heather Ferguson; Chantal Kelly; Christopher Walsh; Richard M Gronostajski; koenraad devriendt; Anne Higgins; Azra H Ligon; Bradley J Quade; Cynthia C Morton; James Gusella; Richard L Maas
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
PLoS genetics 2007;3(5):e80.
2007: J Michael Andresen; Javier Gayán; Luc Djoussé; Simone Roberts; Denise Brocklebank; Stacey Cherny; Lon R Cardon; James Gusella; Marcy E MacDonald; Richard H Myers; David E Housman; Nancy S Wexler
The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset.
Annals of human genetics 2007;71(Pt 3):295-301.
2007: James Gusella; Marcy E MacDonald
Genetic criteria for Huntington's disease pathogenesis.
Brain research bulletin 2007;72(2-3):78-82.
2007: Natalia T Leach; Yi Sun; Sebastien Michaud; Yi Zheng; Keith L Ligon; Azra H Ligon; Thomas Sander; Bruce Korf; Weining Lu; David J Harris; James Gusella; Richard L Maas; Bradley J Quade; Andrew J Cole; max kelz; Cynthia C Morton
Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.
American journal of human genetics 2007;80(4):792-9.
2007: Weining Lu; Albertien M van Eerde; Xueping Fan; Fabiola Quintero-Rivera; Shashikant Kulkarni; Heather Ferguson; Hyung-Goo Kim; Yanli Fan; Qiongchao Xi; Qing-Gang Li; Damien Sanlaville; William Andrews; Vasi Sundaresan; Weimin Bi; Jiong Yan; Jacques C Giltay; Cisca Wijmenga; Tom de Jong; Sally A Feather; Adrian S Woolf; Yi Rao; James R Lupski; Michael Eccles; Bradley J Quade; James Gusella; Cynthia C Morton; Richard L Maas
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
American journal of human genetics 2007;80(4):616-32.
2007: Fabiola Quintero-Rivera; Alicia Chan; Diana J Donovan; James Gusella; Azra H Ligon
Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities.
American journal of medical genetics. Part A 2007;143(6):558-63.
2007: Matthew M Hims; El Chérif Ibrahim; Maire Leyne; James Mull; Lijuan Liu; Conxi Lazaro; Ranjit S Shetty; Sandra Gill; James Gusella; El Chérif Ibrahim; Susan A Slaugenhaupt
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.
Journal of molecular medicine (Berlin, Germany) 2007;85(2):149-61.
2007: Hyung-Goo Kim; Anne W Higgins; Steven R Herrick; Shotaro Kishikawa; Linda Nicholson; Kerstin Kutsche; Azra H Ligon; David J Harris; Marcy E MacDonald; Gail A P Bruns; Cynthia C Morton; Bradley J Quade; James Gusella
Candidate loci for Zimmermann-Laband syndrome at 3p14.3.
American journal of medical genetics. Part A 2007;143(2):107-11.
2006: J B Wilk; J E Tobin; O Suchowersky; H A Shill; Christine Klein; G F Wooten; M F Lew; M H Mark; M Guttman; Ray L Watts; Carlos Singer; John H Growdon; J C Latourelle; M H Saint-Hilaire; A L DeStefano; R Prakash; S Williamson; C J Berg; M Sun; S Goldwurm; G Pezzoli; B A Racette; J S Perlmutter; A Parsian; K B Baker; M L Giroux; I Litvan; P P Pramstaller; G Nicholson; David J Burn; P F Chinnery; Peter Vieregge; J T Slevin; F Cambi; Marcy E MacDonald; James Gusella; Richard H Myers; Lawrence I Golbe
Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study.
Neurology 2006;67(12):2206-10.
2006: Shotaro Kishikawa; Jian-Liang Li; Tammy Gillis; Michael M Hakky; Simon Warby; Michael R Hayden; Marcy E MacDonald; Richard H Myers; James Gusella
Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease.
Neurobiology of disease 2006;24(2):280-5.
2006: Irene Pichler; Fabio Marroni; Claudia Beu Volpato; James Gusella; Christine Klein; Giorgio Casari; Alessandro De Grandi; Peter P Pramstaller
Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate.
American journal of human genetics 2006;79(4):716-23.
2006: Ming-Fen Lee; Roberta L Beauchamp; Kim S Beyer; James Gusella; Vijaya Ramesh
Magicin associates with the Src-family kinases and is phosphorylated upon CD3 stimulation.
Biochemical and biophysical research communications 2006;348(3):826-31.
2006: James Gusella; Marcy E MacDonald
Huntington's disease: seeing the pathogenic process through a genetic lens.
Trends in biochemical sciences 2006;31(9):533-40.
2006: Mei Sun; Jeanne C Latourelle; G Frederick Wooten; Mark F Lew; Christine Klein; Holly A Shill; Lawrence I Golbe; Margery H Mark; Brad A Racette; Joel S Perlmutter; Abbas Parsian; Mark Guttman; Garth Nicholson; Gang Xu; Jemma B Wilk; Marie H Saint-Hilaire; Anita L DeStefano; Ranjana Prakash; Sally Williamson; Oksana Suchowersky; Nancy Labelle; John H Growdon; Carlos Singer; Ray L Watts; Stefano Goldwurm; Gianni Pezzoli; Kenneth B Baker; Peter P Pramstaller; David J Burn; Patrick F Chinnery; Scott Sherman; Peter Vieregge; Irene Litvan; Tammy Gillis; Marcy E MacDonald; Richard H Myers; James Gusella
Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.
Archives of neurology 2006;63(6):826-32.
2006: Wenqi Zeng; Tammy Gillis; Michael Hakky; Luc Djoussé; Richard H Myers; Marcy E MacDonald; James Gusella
Genetic analysis of the GRIK2 modifier effect in Huntington's disease.
BMC neuroscience 2006;7():62.
2006: Jian-Liang Li; Michael R Hayden; Simon Warby; Alexandra Durr; Patrick J Morrison; Martha Nance; Christopher A Ross; Russell L Margolis; Adam Rosenblatt; Ferdinando Squitieri; Luigi Frati; Estrella Gómez-Tortosa; Carmen Ayuso García; Oksana Suchowersky; Mary Lou Klimek; Ronald J A Trent; Elizabeth McCusker; Andrea Novelletto; Marina Frontali; Jane S Paulsen; Randi Jones; Tetsuo Ashizawa; Alice Lazzarini; Vanessa C Wheeler; Ranjana Prakash; Gang Xu; Luc Djoussé; Jayalakshmi Srinidhi Mysore; Tammy Gillis; Michael Hakky; L Adrienne Cupples; Marie H Saint-Hilaire; Jang-Ho Cha; Steven M Hersch; John B Penney; Madaline B Harrison; Susan L Perlman; Andrea Zanko; Ruth K Abramson; Anthony J Lechich; Ayana Duckett; Karen Marder; P Michael Conneally; James Gusella; Marcy E MacDonald; Richard H Myers
Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study.
BMC medical genetics 2006;7():71.
2005: S Karamohamed; J C Latourelle; B A Racette; J S Perlmutter; G F Wooten; M Lew; Christine Klein; H Shill; Lawrence I Golbe; M H Mark; M Guttman; G Nicholson; J B Wilk; M Saint-Hilaire; A L DeStefano; R Prakash; S Tobin; J Williamson; O Suchowersky; N Labell; B N J Growdon; Carlos Singer; Ray L Watts; S Goldwurm; G Pezzoli; K B Baker; M L Giroux; P P Pramstaller; David J Burn; P Chinnery; S Sherman; Peter Vieregge; I Litvan; James Gusella; Richard H Myers; A Parsian
BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study.
Neurology 2005;65(11):1823-5.
2005: Fabio Nunes; Yiping Shen; Yo Niida; Roberta L Beauchamp; Anat Stemmer-Rachamimov; Vijaya Ramesh; James Gusella; Mia MacCollin
Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma.
Cancer genetics and cytogenetics 2005;162(2):135-9.
2005: Ihn Sik Seong; Elena Ivanova; Jong-Min Lee; Yeun Su Choo; Elisa Fossale; MaryAnne Anderson; James Gusella; Jason M Laramie; Richard H Myers; Mathieu Lesort; Marcy E MacDonald
HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism.
Human molecular genetics 2005;14(19):2871-80.
2005: Samer Karamohamed; Lawrence I Golbe; M H Mark; Alice Lazzarini; O Suchowersky; N Labelle; Mark Guttman; L J Currie; G F Wooten; M Stacy; M Saint-Hilaire; R G Feldman; J Liu; C M Shoemaker; J B Wilk; A L DeStefano; J C Latourelle; G Xu; Ray L Watts; John H Growdon; M Lew; C Waters; Peter Vieregge; P P Pramstaller; Christine Klein; B A Racette; J S Perlmutter; A Parsian; Carlos Singer; E Montgomery; K Baker; James Gusella; A Herbert; Richard H Myers
Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study.
Movement disorders : official journal of the Movement Disorder Society 2005;20(9):1188-91.
2005: H G Kim; Steven R Herrick; E Lemyre; Shotaro Kishikawa; J A Salisz; S Seminara; Marcy E MacDonald; G A P Bruns; Cynthia C Morton; Bradley J Quade; James Gusella
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.
Journal of medical genetics 2005;42(8):666-72.
2005: Wen-Qi Zeng; Eiman Al-Yamani; James S Acierno; Susan A Slaugenhaupt; Tammy Gillis; Marcy E MacDonald; Pinar T Ozand; James Gusella
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.
American journal of human genetics 2005;77(1):16-26.
2005: Nitasha Manchanda; Anna Lyubimova; Hsin-Yi Henry Ho; Marianne F James; James Gusella; Narayanaswamy Ramesh; Scott B Snapper; Vijaya Ramesh
The NF2 tumor suppressor Merlin and the ERM proteins interact with N-WASP and regulate its actin polymerization function.
The Journal of biological chemistry 2005;280(13):12517-22.
2005: Jin Wang; Silvia Gines; Marcy E MacDonald; James Gusella
Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation.
BMC neuroscience 2005;6():1.
2004: Thorsten Wiederhold; Ming-Fen Lee; Marianne James; Ralph Neujahr; Nicole Smith; Anita Murthy; John Hartwig; James Gusella; Vijaya Ramesh
Magicin, a novel cytoskeletal protein associates with the NF2 tumor suppressor merlin and Grb2.
Oncogene 2004;23(54):8815-25.
2004: Steven Matthysse; Philip S Holzman; James Gusella; Deborah L Levy; Christopher B Harte; Age Jørgensen; Lise Møller; Josef Parnas
Linkage of eye movement dysfunction to chromosome 6p in schizophrenia: additional evidence.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;128B(1):30-6.
2004: Luc Djoussé; Beth Knowlton; Michael R Hayden; Elisabeth W Almqvist; Ryan R Brinkman; Christopher A Ross; Russell L Margolis; Adam Rosenblatt; Alexandra Durr; Catherine Dode; Patrick J Morrison; Andrea Novelletto; Marina Frontali; Ronald J Trent; Elizabeth A McCusker; Estrella Gómez-Tortosa; David Mayo Cabrero; Randi Jones; Andrea Zanko; Martha Nance; Ruth K Abramson; Oksana Suchowersky; Jane S Paulsen; Madaline B Harrison; Qiong Yang; L Adrienne Cupples; Jayalakshmi Mysore; James Gusella; Marcy E MacDonald; Richard H Myers
Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.
Neurogenetics 2004;5(2):109-14.
2004: Nancy S Wexler; Judith Lorimer; Julie Porter; Fidela Gomez; Carol Moskowitz; Edith Shackell; Karen Marder; Graciela Penchaszadeh; Simone A Roberts; Javier Gayán; Denise Brocklebank; Stacey Cherny; Lon R Cardon; Jacqueline Gray; Stephen R Dlouhy; Sandra Wiktorski; Marion E Hodes; P Michael Conneally; Jack B Penney; James Gusella; Jang-Ho Cha; Michael C Irizarry; Diana Rosas; Steven M Hersch; Zane Hollingsworth; Marcy E MacDonald; Anne B Young; J Michael Andresen; David E Housman; Margot Mieja De Young; Ernesto Bonilla; Theresa Stillings; Americo Negrette; S Robert Snodgrass; Maria Dolores Martinez-Jaurrieta; Maria A Ramos-Arroyo; Jacqueline Bickham; Juan Sanchez Ramos; Frederick John Marshall; Ira Shoulson; Gustavo J Rey; Andrew Feigin; Norman Arnheim; Amarilis Acevedo-Cruz; Leticia Acosta; Jose Alvir; Kenneth H Fischbeck; Leslie M Thompson; Angela Young; Leon Dure; Christopher J O'Brien; Jane S Paulsen; Adam Brickman; Denise Krch; Shelley Peery; Penelope Hogarth; Donald S Higgins; Bernhard Landwehrmeyer
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(10):3498-503.
2004: Susan A Slaugenhaupt; James Mull; Maire Leyne; Math P Cuajungco; Sandra P Gill; Matthew M Hims; Fabiola Quintero; Felicia B Axelrod; James Gusella
Rescue of a human mRNA splicing defect by the plant cytokinin kinetin.
Human molecular genetics 2004;13(4):429-36.
2004: Hetal Parekh-Olmedo; Jin Wang; James Gusella; Eric B Kmiec
Modified single-stranded oligonucleotides inhibit aggregate formation and toxicity induced by expanded polyglutamine.
Journal of molecular neuroscience : MN 2004;24(2):257-67.
2003: S Karamohamed; A L DeStefano; J B Wilk; C M Shoemaker; Lawrence I Golbe; M H Mark; Alice Lazzarini; O Suchowersky; N Labelle; M Guttman; L J Currie; G F Wooten; M Stacy; M Saint-Hilaire; R G Feldman; K M Sullivan; G Xu; Ray L Watts; John H Growdon; M Lew; C Waters; Peter Vieregge; P P Pramstaller; Christine Klein; B A Racette; J S Perlmutter; A Parsian; Carlos Singer; E Montgomery; K Baker; James Gusella; S J Fink; Richard H Myers; A Herbert
A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study.
Neurology 2003;61(11):1557-61.
2003: Stephanie B Seminara; Sophie Messager; Emmanouella E Chatzidaki; Rosemary R Thresher; James S Acierno; Jenna K Shagoury; Yousef Bo-Abbas; Wendy Kuohung; Kristine M Schwinof; Alan G Hendrick; Dirk Zahn; Dixon John; Ursula B Kaiser; Susan A Slaugenhaupt; James Gusella; Stephen O'Rahilly; Mark B L Carlton; William F Crowley; Samuel A J R Aparicio; William H Colledge
The GPR54 gene as a regulator of puberty.
The New England journal of medicine 2003;349(17):1614-27.
2003: Jian-Liang Li; Michael R Hayden; Elisabeth W Almqvist; Ryan R Brinkman; Alexandra Durr; Catherine Dodé; Patrick J Morrison; Oksana Suchowersky; Christopher A Ross; Russell L Margolis; Adam Rosenblatt; Estrella Gómez-Tortosa; David Mayo Cabrero; Andrea Novelletto; Marina Frontali; Martha Nance; Ronald J A Trent; Elizabeth McCusker; Randi Jones; Jane S Paulsen; Madeline Harrison; Andrea Zanko; Ruth K Abramson; Ana L Russ; Beth Knowlton; Luc Djoussé; Jayalakshmi S Mysore; Suzanne Tariot; Michael F Gusella; Vanessa C Wheeler; Larry D Atwood; L Adrienne Cupples; Marie Saint-Hilaire; Jang-Ho J Cha; Steven M Hersch; Walter J Koroshetz; James Gusella; Marcy E MacDonald; Richard H Myers
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.
American journal of human genetics 2003;73(3):682-7.
2003: Luc Djoussé; Beth Knowlton; Michael R Hayden; Elisabeth W Almqvist; Ryan R Brinkman; Christopher A Ross; Russell L Margolis; Adam Rosenblatt; Alexandra Durr; Catherine Dode; P J Morrison; Andrea Novelletto; Marina Frontali; Ronald J Trent; Elizabeth A McCusker; Estrella Gómez-Tortosa; D Mayo; R Jones; A Zanko; Martha Nance; Ruth K Abramson; Oksana Suchowersky; Jane S Paulsen; M Harrison; Qiong Yang; L Adrienne Cupples; James Gusella; Marcy E MacDonald; Richard H Myers
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease.
American journal of medical genetics. Part A 2003;119A(3):279-82.
2003: Stephen W Scherer; Joseph Cheung; Jeffrey R MacDonald; Lucy Osborne; Kazuhiko Nakabayashi; Jo-Anne Herbrick; Andrew R Carson; Layla Parker-Katiraee; Jennifer Skaug; Razi Khaja; Junjun Zhang; Alexander K Hudek; Martin Li; May Haddad; Gavin E Duggan; Bridget A Fernandez; Emiko Kanematsu; Simone Gentles; Constantine C Christopoulos; Sanaa Choufani; Dorota Kwasnicka; Xiangqun H Zheng; Zhongwu Lai; Deborah Nusskern; Qing Zhang; Zhiping Gu; Fu Lu; Susan Zeesman; Malgorzata J Nowaczyk; Ikuko Teshima; David Chitayat; Cheryl Shuman; Rosanna Weksberg; Elaine H Zackai; Theresa A Grebe; Sarah R Cox; Susan J Kirkpatrick; Nazneen Rahman; Jan M Friedman; Hong-Qiang Heng; Pier Giuseppe Pelicci; Francesco Lo-Coco; Elena Belloni; Lisa Shaffer; Barbara Pober; Cynthia C Morton; James Gusella; Gail A P Bruns; Bruce Korf; Bradley J Quade; Azra H Ligon; Heather Ferguson; Anne W Higgins; Natalia T Leach; Steven R Herrick; Emmanuelle Lemyre; Chantal G Farra; Hyung-Goo Kim; Anne M Summers; Karen W Gripp; Wendy Roberts; Peter Szatmari; Elizabeth J T Winsor; Karl-Heinz Grzeschik; Ahmed Teebi; Berge A Minassian; Juha Kere; Lluis Armengol; Miguel Angel Pujana; Xavier Estivill; Michael D Wilson; Ben F Koop; Sabrina Tosi; Gudrun E Moore; Andrew P Boright; Eitan Zlotorynski; Batsheva Kerem; Peter M Kroisel; Erwin Petek; David G Oscier; Sarah J Mould; Hartmut Döhner; Konstanze Döhner; Johanna M Rommens; John B Vincent; J Craig Venter; Peter W Li; Richard J Mural; Mark D Adams; Lap-Chee Tsui
Human chromosome 7: DNA sequence and biology.
Science (New York, N.Y.) 2003;300(5620):767-72.
2003: Taurai Nenguke; Mirit I Aladjem; James Gusella; Nancy S Wexler; Norman Arnheim
Candidate DNA replication initiation regions at human trinucleotide repeat disease loci.
Human molecular genetics 2003;12(9):1021-8.
2003: Maire Leyne; James Mull; Sandra P Gill; Math P Cuajungco; Carole Oddoux; Anat Blumenfeld; Channa Maayan; James Gusella; Felicia B Axelrod; Susan A Slaugenhaupt
Identification of the first non-Jewish mutation in familial Dysautonomia.
American journal of medical genetics. Part A 2003;118A(4):305-8.
2003: Silvia Gines; Ihn Sik Seong; Elisa Fossale; Elena Ivanova; Flavia Trettel; James Gusella; Vanessa C Wheeler; Francesca Persichetti; Marcy E MacDonald
Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice.
Human molecular genetics 2003;12(5):497-508.
2003: Math P Cuajungco; Maire Leyne; James Mull; Sandra P Gill; Weining Lu; David Zagzag; Felicia B Axelrod; Channa Maayan; James Gusella; Susan A Slaugenhaupt
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.
American journal of human genetics 2003;72(3):749-58.
2003: Marcy E MacDonald; Silvia Gines; James Gusella; Vanessa C Wheeler
Huntington's disease.
Neuromolecular medicine 2003;4(1-2):7-20.
2002: Hiroki Takano; James Gusella
The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor.
BMC neuroscience 2002;3():15.
2002: Elisa Fossale; Vanessa C Wheeler; Vladimir Vrbanac; Lori-Anne Lebel; Allison Teed; Jayalakshmi Mysore; James Gusella; Marcy E MacDonald; Francesca Persichetti
Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice.
Human molecular genetics 2002;11(19):2233-41.
2002: Susan A Slaugenhaupt; James Gusella
Familial dysautonomia.
Current opinion in genetics & development 2002;12(3):307-11.
2002: Anita L DeStefano; Mark F Lew; Lawrence I Golbe; Margery H Mark; Alice Lazzarini; Mark Guttman; Erwin Montgomery; Cheryl H Waters; Carlos Singer; Ray L Watts; Lillian J Currie; G Frederick Wooten; Nancy E Maher; Jemma B Wilk; Kristin M Sullivan; Karen M Slater; Marie H Saint-Hilaire; Robert G Feldman; Oksana Suchowersky; Anne-Louise Lafontaine; Nancy Labelle; John H Growdon; Peter Vieregge; Peter P Pramstaller; Christine Klein; Jean P Hubble; Carson R Reider; Mark Stacy; Marcy E MacDonald; James Gusella; Richard H Myers
PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study.
American journal of human genetics 2002;70(5):1089-95.
2002: Vanessa C Wheeler; Claire-Anne Gutekunst; Vladimir Vrbanac; Lori-Anne Lebel; Gabriele Schilling; Steven M Hersch; Robert M Friedlander; James Gusella; Jean-Paul Vonsattel; David R Borchelt; Marcy E MacDonald
Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice.
Human molecular genetics 2002;11(6):633-40.
2002: James Gusella; Marcy E MacDonald
No post-genetics era in human disease research.
Nature reviews. Genetics 2002;3(1):72-9.
2001: Anita L DeStefano; Lawrence I Golbe; Margery H Mark; Alice Lazzarini; NE Maher; Marie H Saint-Hilaire; Robert G Feldman; Mark Guttman; Ray L Watts; Oksana Suchowersky; Anne-Louise Lafontaine; Nancy Labelle; Mark Lew; C H Waters; John H Growdon; Carlos Singer; Lillian J Currie; G Frederick Wooten; Peter Vieregge; P P Pramstaller; Christine Klein; Jean P Hubble; Mark Stacy; E Montgomery; Marcy E MacDonald; James Gusella; Richard H Myers
Genome-wide scan for Parkinson's disease: the GenePD Study.
Neurology 2001;57(6):1124-6.
2001: Math P Cuajungco; Maire Leyne; James Mull; Sandra P Gill; James Gusella; Susan A Slaugenhaupt
Cloning, characterization, and genomic structure of the mouse Ikbkap gene.
DNA and cell biology 2001;20(9):579-86.
2001: Susan A Slaugenhaupt; Anat Blumenfeld; Sandra P Gill; Maire Leyne; James Mull; Math P Cuajungco; CB Liebert; BP Chadwick; Maria Idelson; Luba Reznik; Christiane Robbins; Izabela Makalowska; Michael J Brownstein; Daniel Krappmann; Claus Scheidereit; Channa Maayan; Felicia B Axelrod; James Gusella
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
American journal of human genetics 2001;68(3):598-605.
2001: Estrella Gómez-Tortosa; Marcy E MacDonald; J C Friend; S A Taylor; L J Weiler; L Adrienne Cupples; J Srinidhi; James Gusella; ED Bird; Jean-Paul Vonsattel; Richard H Myers
Quantitative neuropathological changes in presymptomatic Huntington's disease.
Annals of neurology 2001;49(1):29-34.
2000: James Gusella; Marcy E MacDonald
Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease.
Nature reviews. Neuroscience 2000;1(2):109-15.
2000: Lan Kluwe; Victor Mautner; Dilys M Parry; Lee B Jacoby; Michael E Baser; James Gusella; K Davis; Dimitrios Stavrou; Mia MacCollin
The parental origin of new mutations in neurofibromatosis 2.
Neurogenetics 2000;3(1):17-24.
2000: LA Passani; M T Bedford; Peter W Faber; K M McGinnis; A H Sharp; James Gusella; Jean-Paul Vonsattel; Marcy E MacDonald
Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis.
Human molecular genetics 2000;9(14):2175-82.
2000: D J Lim; AE Rubenstein; D G R Evans; Tyler Jacks; B G Seizinger; Michael E Baser; D Beebe; D E Brackmann; E A Chiocca; Richard G Fehon; M Giovannini; R Glazer; James Gusella; David H Gutmann; B Korf; F Lieberman; Robert L Martuza; Andrea I McClatchey; Dilys M Parry; Stef pulst; Vijaya Ramesh; W J Ramsey; Nancy Ratner; J L Rutkowski; M Ruttledge; D E Weinstein
Advances in neurofibromatosis 2 (NF2): a workshop report.
Journal of neurogenetics 2000;14(2):63-106.
2000: A Castells; James Gusella; Vijaya Ramesh; A K Rustgi
A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers.
Cancer research 2000;60(11):2836-9.
2000: Vanessa C Wheeler; JK White; Claire-Anne Gutekunst; Vladimir Vrbanac; M Weaver; Xiao-Jiang Li; S H Li; H Yi; Jean-Paul Vonsattel; James Gusella; Steven M Hersch; Wojtek Auerbach; Alexandra L Joyner; Marcy E MacDonald
Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice.
Human molecular genetics 2000;9(4):503-13.
2000: BP Chadwick; Maire Leyne; Sandra Gill; CB Liebert; James Mull; Eva Mezey; Christiane M Robbins; Heather Pinkett; Izabela Makalowska; Channa Maayan; Anat Blumenfeld; Felicia B Axelrod; Michael J Brownstein; James Gusella; Susan A Slaugenhaupt
Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31.
Mammalian genome : official journal of the International Mammalian Genome Society 2000;11(1):81-3.
1999: Charo Gonzalez-Agosti; Thorsten Wiederhold; M E Herndon; James Gusella; Vijaya Ramesh
Interdomain interaction of merlin isoforms and its influence on intermolecular binding to NHE-RF.
The Journal of biological chemistry 1999;274(48):34438-42.
1999: Marcy E MacDonald; Jean-Paul Vonsattel; J Shrinidhi; NN Couropmitree; L Adrienne Cupples; ED Bird; James Gusella; Richard H Myers
Evidence for the GluR6 gene associated with younger onset age of Huntington's disease.
Neurology 1999;53(6):1330-2.
1999: Francesca Persichetti; Flavia Trettel; C C Huang; Cornel Fraefel; H T Timmers; James Gusella; Marcy E MacDonald
Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment.
Neurobiology of disease 1999;6(5):364-75.
1999: A Castells; Yasushi Ino; David N Louis; Vijaya Ramesh; James Gusella; A K Rustgi
Mapping of a target region of allelic loss to a 0.5-cM interval on chromosome 22q13 in human colorectal cancer.
Gastroenterology 1999;117(4):831-7.
1999: Susan A Slaugenhaupt; James S Acierno; LA Helbling; Catherine M Bove; Ehud Goldin; G Bach; Raphael Schiffmann; James Gusella
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.
American journal of human genetics 1999;65(3):773-8.
1999: Jay-Jiguang Zhu; T Maruyama; L B Jacoby; James G Herman; James Gusella; Peter Black; J K Wu
Clonal analysis of a case of multiple meningiomas using multiple molecular genetic approaches: pathology case report.
Neurosurgery 1999;45(2):409-16.
1999: marcela karpuj; Hideki Garren; Hilda H Slunt; Donald L Price; James Gusella; Mark W Becher; Lawrence Steinman
Transglutaminase aggregates huntingtin into nonamyloidogenic polymers, and its enzymatic activity increases in Huntington's disease brain nuclei.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(13):7388-93.
1999: BP Chadwick; James Mull; LA Helbling; Sandra Gill; Maire Leyne; Christiane M Robbins; Heather Pinkett; Izabela Makalowska; Channa Maayan; Anat Blumenfeld; Felicia B Axelrod; Michael J Brownstein; James Gusella; Susan A Slaugenhaupt
Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31.
Genomics 1999;58(3):302-9.
1999: Lee B Jacoby; Mia MacCollin; Dilys M Parry; Lan Kluwe; J Lynch; D Jones; James Gusella
Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis.
Neurogenetics 1999;2(2):101-8.
1999: Anat Blumenfeld; Susan A Slaugenhaupt; CB Liebert; V Temper; Channa Maayan; Sandra Gill; D E Lucente; Maria Idelson; K MacCormack; M A Monahan; James Mull; Maire Leyne; M Mendillo; Taryn A Schiripo; E Mishori; X Breakefield; Felicia B Axelrod; James Gusella
Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.
American journal of human genetics 1999;64(4):1110-8.
1999: James Gusella; Vijaya Ramesh; Mia MacCollin; Lee B Jacoby
Merlin: the neurofibromatosis 2 tumor suppressor.
Biochimica et biophysica acta 1999;1423(2):M29-36.
1999: EP Leeflang; Simon Tavaré; Paul Marjoram; C O Neal; J Srinidhi; H MacFarlane; Marcy E MacDonald; James Gusella; M de Young; Nancy S Wexler; Norman Arnheim
Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism.
Human molecular genetics 1999;8(2):173-83.
1999: Vanessa C Wheeler; Wojtek Auerbach; JK White; J Srinidhi; A Auerbach; A Ryan; Mabel P Duyao; Vladimir Vrbanac; M Weaver; James Gusella; Alexandra L Joyner; Marcy E MacDonald
Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse.
Human molecular genetics 1999;8(1):115-22.
1998: Anat Stemmer-Rachamimov; G P Nielsen; Andrew E Rosenberg; David N Louis; D Jones; Vijaya Ramesh; James Gusella; Lee B Jacoby
The NF2 gene and merlin protein in human osteosarcomas.
Neurogenetics 1998;2(1):73-4.
1998: Anat Stemmer-Rachamimov; Yasushi Ino; Ziyi Lim; Lee B Jacoby; Mia MacCollin; James Gusella; Vijaya Ramesh; David N Louis
Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2.
Journal of neuropathology and experimental neurology 1998;57(12):1164-7.
1998: Joni L Rutter; TI Mitchell; G Butticè; J Meyers; James Gusella; L J Ozelius; Constance E Brinckerhoff
A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription.
Cancer research 1998;58(23):5321-5.
1998: James Gusella; D K Podolsky
Inflammatory bowel disease: is it in the genes?
Gastroenterology 1998;115(5):1286-9.
1998: Peter W Faber; G T Barnes; J Srinidhi; J Chen; James Gusella; Marcy E MacDonald
Huntingtin interacts with a family of WW domain proteins.
Human molecular genetics 1998;7(9):1463-74.
1998: Athar H Chishti; Anthony C Kim; Shirin Marfatia; Mohini Lutchman; Manjit Hanspal; Hitesh K Jindal; S C Liu; P S Low; G A Rouleau; N Mohandas; Joel Anne Chasis; John G Conboy; Philippe Gascard; Yuichi Takakuwa; S C Huang; Edward J Benz; A Bretscher; Richard G Fehon; James Gusella; Vijaya Ramesh; F Solomon; V T Marchesi; S Tsukita; S Tsukita; K B Hoover
The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane.
Trends in biochemical sciences 1998;23(8):281-2.
1998: C C Huang; Peter W Faber; Francesca Persichetti; V Mittal; Jean-Paul Vonsattel; Marcy E MacDonald; James Gusella
Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins.
Somatic cell and molecular genetics 1998;24(4):217-33.
1998: James Gusella; Marcy E MacDonald
Huntingtin: a single bait hooks many species.
Current opinion in neurobiology 1998;8(3):425-30.
1998: Andrea I McClatchey; Ichiko Saotome; Kim L Mercer; Denise Crowley; James Gusella; Roderick T Bronson; Tyler Jacks
Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors.
Genes & development 1998;12(8):1121-33.
1998: Glenn S Cowley; A E Murthy; Dilys M Parry; G Schneider; B Korf; M Upadhyaya; P Harper; Mia MacCollin; Andre Bernards; James Gusella
Genetic variation in the 3' untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression.
Somatic cell and molecular genetics 1998;24(2):107-19.
1998: Tim Green; Stephen F Heinemann; James Gusella
Molecular neurobiology and genetics: investigation of neural function and dysfunction.
Neuron 1998;20(3):427-44.
1998: A Murthy; Charo Gonzalez-Agosti; E Cordero; D Pinney; C Candia; F Solomon; James Gusella; Vijaya Ramesh
NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins.
The Journal of biological chemistry 1998;273(3):1273-6.
1998: BP Chadwick; LA Helbling; M Angrist; Aravinda Chakravarti; James Gusella; Susan A Slaugenhaupt
Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR.
Cytogenetics and cell genetics 1998;83(3-4):236-7.
1998: Laurie J Ozelius; Jeffrey W Hewett; CE Page; Susan Bressman; Patricia L Kramer; Christo Shalish; Deborah de Leon; Mitchell F Brin; Deborah Raymond; D Jacoby; John B Penney; Neil J Risch; Stanley Fahn; James Gusella; Xandra O Breakefield
The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family.
Advances in neurology 1998;78():93-105.
1997: Anat Stemmer-Rachamimov; L Xu; Charo Gonzalez-Agosti; J A Burwick; D Pinney; Roberta L Beauchamp; Lee B Jacoby; James Gusella; Vijaya Ramesh; David N Louis
Universal absence of merlin, but not other ERM family members, in schwannomas.
The American journal of pathology 1997;151(6):1649-54.
1997: Lee B Jacoby; D Jones; K Davis; D Kronn; M P Short; James Gusella; Mia MacCollin
Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis.
American journal of human genetics 1997;61(6):1293-302.
1997: JK White; Wojtek Auerbach; Mabel P Duyao; Jean-Paul Vonsattel; James Gusella; Alexandra L Joyner; Marcy E MacDonald
Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion.
Nature genetics 1997;17(4):404-10.
1997: I Pribill; G T Barnes; J Chen; D Church; AJ Buckler; S Baxendale; Gillian P Bates; H Lehrach; M J Gusella; Mabel P Duyao; C M Ambrose; James Gusella; Marcy E MacDonald
Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p16.3.
Somatic cell and molecular genetics 1997;23(6):413-27.
1997: Laurie J Ozelius; Jeffrey W Hewett; CE Page; Susan Bressman; Patricia L Kramer; Christo Shalish; Deborah de Leon; Mitchell F Brin; Deborah Raymond; David P Corey; Stanley Fahn; Neil J Risch; AJ Buckler; James Gusella; Xandra O Breakefield
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
Nature genetics 1997;17(1):40-8.
1997: Andrea I McClatchey; Ichiko Saotome; Vijaya Ramesh; James Gusella; Tyler Jacks
The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation.
Genes & development 1997;11(10):1253-65.
1997: I The; G E Hannigan; Glenn S Cowley; S Reginald; Yi Zhong; James Gusella; Iswar K Hariharan; Andre Bernards
Rescue of a Drosophila NF1 mutant phenotype by protein kinase A.
Science (New York, N.Y.) 1997;276(5313):791-4.
1997: S M McNeil; A Novelletto; J Srinidhi; G Barnes; I Kornbluth; MR Altherr; J J Wasmuth; James Gusella; Marcy E MacDonald; Richard H Myers
Reduced penetrance of the Huntington's disease mutation.
Human molecular genetics 1997;6(5):775-9.
1997: John B Penney; Jean-Paul Vonsattel; Marcy E MacDonald; James Gusella; Richard H Myers
CAG repeat number governs the development rate of pathology in Huntington's disease.
Annals of neurology 1997;41(5):689-92.
1997: Laurie J Ozelius; Jeffrey W Hewett; Patricia L Kramer; Susan Bressman; Christo Shalish; Deborah de Leon; M Rutter; Neil Risch; Mitchell F Brin; Elena D Markova; Svetlana A Limborska; Irina A Ivanova-Smolenskaya; M K McCormick; Stanley Fahn; AJ Buckler; James Gusella; Xandra O Breakefield
Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium.
Genome research 1997;7(5):483-94.
1997: Robert J Ferrante; Claire-Anne Gutekunst; Francesca Persichetti; S M McNeil; Neil W Kowall; James Gusella; Marcy E MacDonald; M Flint Beal; Steven M Hersch
Heterogeneous topographic and cellular distribution of huntingtin expression in the normal human neostriatum.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1997;17(9):3052-63.
1997: Christoph M Kosinski; Jang-Ho Cha; Anne B Young; Francesca Persichetti; Marcy E MacDonald; James Gusella; John B Penney; David G Standaert
Huntingtin immunoreactivity in the rat neostriatum: differential accumulation in projection and interneurons.
Experimental neurology 1997;144(2):239-47.
1997: James Gusella; Francesca Persichetti; Marcy E MacDonald
The genetic defect causing Huntington's disease: repeated in other contexts?
Molecular medicine (Cambridge, Mass.) 1997;3(4):238-46.
1997: Anil G Menon; J L Rutter; J P von Sattel; H Synder; C Murdoch; A Blumenfeld; R L Martuza; A von Deimling; James Gusella; T W Houseal
Frequent loss of chromosome 14 in atypical and malignant meningioma: identification of a putative 'tumor progression' locus.
Oncogene 1997;14(5):611-6.
1996: Jonathan L Haines; M L Pritchard; Ann M Saunders; J M Schildkraut; John H Growdon; Perry C Gaskell; Lindsay A Farrer; S A Auerbach; James Gusella; P A Locke; B L Rosi; LH Yamaoka; Gary W Small; P M Conneally; Allen D Roses; Margaret Pericak-Vance
No association between alpha 1-antichymotrypsin and familial Alzheimer's disease.
Annals of the New York Academy of Sciences 1996;802():35-41.
1996: C L Grosson; Stephen C Cannon; D P Corey; James Gusella
Sequence of the voltage-gated sodium channel beta1-subunit in wild-type and in quivering mice.
Brain research. Molecular brain research 1996;42(2):222-6.
1996: Rita De Gasperi; Miguel A Gama Sosa; Edi Sartorato; S Battistini; H MacFarlane; James Gusella; W Krivit; Edwin H Kolodny
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.
American journal of human genetics 1996;59(6):1233-42.
1996: Marcy E MacDonald; James Gusella
Huntington's disease: translating a CAG repeat into a pathogenic mechanism.
Current opinion in neurobiology 1996;6(5):638-43.
1996: Charo Gonzalez-Agosti; L Xu; D Pinney; Roberta L Beauchamp; W Hobbs; James Gusella; Vijaya Ramesh
The merlin tumor suppressor localizes preferentially in membrane ruffles.
Oncogene 1996;13(6):1239-47.
1996: Lee B Jacoby; Mia MacCollin; R Barone; Vijaya Ramesh; James Gusella
Frequency and distribution of NF2 mutations in schwannomas.
Genes, chromosomes & cancer 1996;17(1):45-55.
1996: A E Murthy; Andre Bernards; D Church; J Wasmuth; James Gusella
Identification and characterization of two novel tetratricopeptide repeat-containing genes.
DNA and cell biology 1996;15(9):727-35.
1996: Mia MacCollin; N Braverman; D Viskochil; M Ruttledge; K Davis; R Ojemann; James Gusella; Dilys M Parry
A point mutation associated with a severe phenotype of neurofibromatosis 2.
Annals of neurology 1996;40(3):440-5.
1996: Dilys M Parry; Mia MacCollin; Muriel I Kaiser-Kupfer; K Pulaski; H Stacy Nicholson; M Bolesta; R Eldridge; James Gusella
Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.
American journal of human genetics 1996;59(3):529-39.
1996: Jonathan L Haines; M Ter-Minassian; A Bazyk; James Gusella; D J Kim; H Terwedow; Margaret Pericak-Vance; Jacqueline B Rimmler; C S Haynes; Allen D Roses; A Lee; B Shaner; M Menold; Eric Seboun; R P Fitoussi; C Gartioux; C Reyes; F Ribierre; Gabor Gyapay; Jean Weissenbach; Stephen L Hauser; D E Goodkin; R Lincoln; K Usuku; J R Oksenberg
A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group.
Nature genetics 1996;13(4):469-71.
1996: Jonathan L Haines; M L Pritchard; Ann M Saunders; J M Schildkraut; John H Growdon; Perry C Gaskell; Lindsay A Farrer; S A Auerbach; James Gusella; P A Locke; B L Rosi; LH Yamaoka; Gary W Small; P M Conneally; Allen D Roses; Margaret Pericak-Vance
No genetic effect of alpha1-antichymotrypsin in Alzheimer disease.
Genomics 1996;33(1):53-6.
1996: James Gusella; Vijaya Ramesh; Mia MacCollin; Lee B Jacoby
Neurofibromatosis 2: loss of merlin's protective spell.
Current opinion in genetics & development 1996;6(1):87-92.
1996: Marcy E MacDonald; Mabel P Duyao; T Calzonetti; A Auerbach; A Ryan; G Barnes; J K White; Wojtek Auerbach; Jean-Paul Vonsattel; James Gusella; Alexandra L Joyner
Targeted inactivation of the mouse Huntington's disease gene homolog Hdh.
Cold Spring Harbor symposia on quantitative biology 1996;61():627-38.
1996: James Gusella; S McNeil; Francesca Persichetti; J Srinidhi; Andrea Novelletto; E Bird; Peter W Faber; Jean-Paul Vonsattel; Richard H Myers; Marcy E MacDonald
Huntington's disease.
Cold Spring Harbor symposia on quantitative biology 1996;61():615-26.
1996: Francesca Persichetti; L Carlee; Peter W Faber; S M McNeil; C M Ambrose; J Srinidhi; M Anderson; G T Barnes; James Gusella; Marcy E MacDonald
Differential expression of normal and mutant Huntington's disease gene alleles.
Neurobiology of disease 1996;3(3):183-90.
1996: C L Grosson; J Esteban; Diane McKenna-Yasek; James Gusella; R H Brown
Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect.
Neuromuscular disorders : NMD 1996;6(1):27-31.
1996: James Gusella; Marcy E MacDonald
Trinucleotide instability: a repeating theme in human inherited disorders.
Annual review of medicine 1996;47():201-9.
1996: Thomas Gasser; Zbigniew K Wszolek; A Supala; J Trofatter; Laurie J Ozelius; Ryan Uitti; Ronald F Pfeiffer; James Gusella; Donald B Calne; Xandra O Breakefield
Genetic linkage studies in autosomal dominantly inherited L-DOPA responsive parkinsonism. Evaluation of candidate genes.
Advances in neurology 1996;69():87-95.
1996: Robert A Peterfreund; Mia MacCollin; James Gusella; J Stephen Fink
Characterization and expression of the human A2a adenosine receptor gene.
Journal of neurochemistry 1996;66(1):362-8.
1995: Christine M Eng; Susan A Slaugenhaupt; Anat Blumenfeld; Felicia B Axelrod; James Gusella; Robert J Desnick
Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33.
American journal of medical genetics 1995;59(3):349-55.
1995: Eric W Johnson; L M Iyer; S S Rich; Harry T Orr; A Gil-Nagel; J H Kurth; J M Zabramski; Douglas A Marchuk; J Weissenbach; C L Clericuzio; L E Davis; B L Hart; James Gusella; B E Kosofsky; D N Louis; L A Morrison; Eric Green; J L Weber
Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig.
Genome research 1995;5(4):368-80.
1995: J T Joseph; D K Lisle; Lee B Jacoby; W Paulus; R Barone; M L Cohen; W H Roggendorf; J M Bruner; James Gusella; David N Louis
NF2 gene analysis distinguishes hemangiopericytoma from meningioma.
The American journal of pathology 1995;147(5):1450-5.
1995: J A Trofatter; K R Long; J R Murrell; C J Stotler; James Gusella; AJ Buckler
An expression-independent catalog of genes from human chromosome 22.
Genome research 1995;5(3):214-24.
1995: James Gusella; Marcy E MacDonald
Huntington's disease: CAG genetics expands neurobiology.
Current opinion in neurobiology 1995;5(5):656-62.
1995: Anil K Rustgi; L Xu; D Pinney; C Sterner; Roberta L Beauchamp; S Schmidt; James Gusella; Vijaya Ramesh
Neurofibromatosis 2 gene in human colorectal cancer.
Cancer genetics and cytogenetics 1995;84(1):24-6.
1995: David N Louis; James Gusella
A tiger behind many doors: multiple genetic pathways to malignant glioma.
Trends in genetics : TIG 1995;11(10):412-5.
1995: W H Yong; K Ueki; D Chou; S A Reeves; A von Deimling; James Gusella; Harvey W Mohrenweiser; AJ Buckler; David N Louis
Cloning of a highly conserved human protein serine-threonine phosphatase gene from the glioma candidate region on chromosome 19q13.3.
Genomics 1995;29(2):533-6.
1995: Steven M Reppert; C Godson; C D Mahle; David R Weaver; S A Slaugenhaupt; James Gusella
Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(19):8734-8.
1995: Carole Oddoux; E Reich; Felicia B Axelrod; Anat Blumenfeld; Channa Maayan; Susan A Slaugenhaupt; James Gusella; Harry Ostrer
Prenatal diagnostic testing for familial dysautonomia using linked genetic markers.
Prenatal diagnosis 1995;15(9):817-26.
1995: EP Leeflang; Lin Zhang; Simon Tavaré; R Hubert; J Srinidhi; Marcy E MacDonald; Richard H Myers; M de Young; N S Wexler; James Gusella
Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum.
Human molecular genetics 1995;4(9):1519-26.
1995: W H Yong; D Chou; K Ueki; G R Harsh; A von Deimling; James Gusella; Harvey W Mohrenweiser; David N Louis
Chromosome 19q deletions in human gliomas overlap telomeric to D19S219 and may target a 425 kb region centromeric to D19S112.
Journal of neuropathology and experimental neurology 1995;54(5):622-6.
1995: Irene Slavc; M M MacCollin; M Dunn; S Jones; L Sutton; James Gusella; Jaclyn A Biegel
Exon scanning for mutations of the NF2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas.
International journal of cancer. Journal international du cancer 1995;64(4):243-7.
1995: M Sahin; S A Slaugenhaupt; James Gusella; Susan Hockfield
Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(17):7859-63.
1995: Mabel P Duyao; A B Auerbach; A Ryan; Francesca Persichetti; G T Barnes; S M McNeil; P Ge; Jean-Paul Vonsattel; James Gusella; Alexandra L Joyner
Inactivation of the mouse Huntington's disease gene homolog Hdh.
Science (New York, N.Y.) 1995;269(5222):407-10.
1995: Douglas A Marchuk; Carol J Gallione; L A Morrison; C L Clericuzio; B L Hart; B E Kosofsky; D N Louis; James Gusella; L E Davis; Valerie Prenger
A locus for cerebral cavernous malformations maps to chromosome 7q in two families.
Genomics 1995;28(2):311-4.
1995: Susan A Slaugenhaupt; A L Roca; CB Liebert; M R Altherr; James Gusella; S M Reppert
Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a).
Genomics 1995;27(2):355-7.
1995: Ruth Wellenreuther; J A Kraus; Doris Lenartz; Anil G Menon; Johannes Schramm; David N Louis; Vijaya Ramesh; James Gusella; Otmar D Wiestler; Andreas von Deimling
Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma.
The American journal of pathology 1995;146(4):827-32.
1995: D N Louis; Vijaya Ramesh; James Gusella
Neuropathology and molecular genetics of neurofibromatosis 2 and related tumors.
Brain pathology (Zurich, Switzerland) 1995;5(2):163-72.
1995: Chikashi Ishioka; R Ballester; M Engelstein; Marc Vidal; J Kassel; I The; Andre Bernards; James Gusella; S H Friend
A functional assay for heterozygous mutations in the GTPase activating protein related domain of the neurofibromatosis type 1 gene.
Oncogene 1995;10(5):841-7.
1995: James Gusella; Marcy E MacDonald
Huntington's disease.
Seminars in cell biology 1995;6(1):21-8.
1995: Bruno Giordani; Stanley Berent; Michael J Boivin; John B Penney; S Lehtinen; Dorene S Markel; Z Hollingsworth; G Butterbaugh; R D Hichwa; James Gusella
Longitudinal neuropsychological and genetic linkage analysis of persons at risk for Huntington's disease.
Archives of neurology 1995;52(1):59-64.
1995: Jean-Paul Vonsattel; H Aizawa; P Ge; Marian DiFiglia; A C McKee; Marcy E MacDonald; James Gusella; G Bernhard Landwehrmeyer; ED Bird; E P Richardson
An improved approach to prepare human brains for research.
Journal of neuropathology and experimental neurology 1995;54(1):42-56.
1995: H M Kozman; T P Keith; H Donis-Keller; Raymond White; J Weissenbach; M Dean; Gilles Vergnaud; K Kidd; James Gusella; N J Royle
The CEPH consortium linkage map of human chromosome 16.
Genomics 1995;25(1):44-58.
1995: Andreas von Deimling; J A Kraus; AP Stangl; Ruth Wellenreuther; Doris Lenartz; Johannes Schramm; David N Louis; Vijaya Ramesh; James Gusella; Otmar D Wiestler
Evidence for subarachnoid spread in the development of multiple meningiomas.
Brain pathology (Zurich, Switzerland) 1995;5(1):11-4.
1995: P A Locke; P M Conneally; Rudolph E Tanzi; James Gusella; Jonathan L Haines
Apolipoprotein E4 allele and Alzheimer disease: examination of allelic association and effect on age at onset in both early- and late-onset cases.
Genetic epidemiology 1995;12(1):83-92.
1995: Anat Blumenfeld; D E Lucente; J A Trofatter; Terry J Lerner; Susan A Slaugenhaupt; CB Liebert; M Monahan; Jonathan L Haines; James Gusella; Xandra O Breakefield; L M Parysek
Peripherin gene is linked to keratin 18 gene on human chromosome 12.
Somatic cell and molecular genetics 1995;21(1):83-8.
1994: Francesca Persichetti; J Srinidhi; L Kanaley; P Ge; Richard H Myers; K D'Arrigo; G T Barnes; Marcy E MacDonald; Jean-Paul Vonsattel; James Gusella
Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains.
Neurobiology of disease 1994;1(3):159-66.
1994: A Bernards; James Gusella
The importance of genetic mosaicism in human disease.
The New England journal of medicine 1994;331(21):1447-9.
1994: W L Yan; Terry J Lerner; Jonathan L Haines; James Gusella
Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3).
Genomics 1994;24(2):375-7.
1994: Karl Kieburtz; Marcy E MacDonald; C Shih; A Feigin; K Steinberg; K Bordwell; C Zimmerman; J Srinidhi; J Sotack; James Gusella
Trinucleotide repeat length and progression of illness in Huntington's disease.
Journal of medical genetics 1994;31(11):872-4.
1994: K Ueki; M P Rubio; Vijaya Ramesh; K M Correa; J L Rutter; A von Deimling; AJ Buckler; James Gusella; David N Louis
MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p.
Human molecular genetics 1994;3(10):1841-5.
1994: Anjali Tikoo; M Varga; Vijaya Ramesh; James Gusella; Hiroshi Maruta
An anti-Ras function of neurofibromatosis type 2 gene product (NF2/Merlin).
The Journal of biological chemistry 1994;269(38):23387-90.
1994: Ashley I Bush; Warren H Pettingell; Gerd Multhaup; M d Paradis; J P Vonsattel; James Gusella; Konrad Beyreuther; Colin L Masters; Rudolph E Tanzi
Rapid induction of Alzheimer A beta amyloid formation by zinc.
Science (New York, N.Y.) 1994;265(5177):1464-7.
1994: M P Rubio; K M Correa; K Ueki; Harvey W Mohrenweiser; James Gusella; A von Deimling; David N Louis
The putative glioma tumor suppressor gene on chromosome 19q maps between APOC2 and HRC.
Cancer research 1994;54(17):4760-3.
1994: Thomas Gasser; Zbigniew K Wszolek; J Trofatter; Laurie J Ozelius; Ryan Uitti; C S Lee; James Gusella; Ronald F Pfeiffer; Donald B Calne; Xandra O Breakefield
Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes.
Annals of neurology 1994;36(3):387-96.
1994: R Hubert; Marcy E MacDonald; James Gusella; Norman Arnheim
High resolution localization of recombination hot spots using sperm typing.
Nature genetics 1994;7(3):420-4.
1994: C L Grosson; Marcy E MacDonald; Mabel P Duyao; C M Ambrose; S Roffler-Tarlov; James Gusella
Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5.
Mammalian genome : official journal of the International Mammalian Genome Society 1994;5(7):424-8.
1994: James Gusella; Marcy E MacDonald
Huntington's disease and repeating trinucleotides.
The New England journal of medicine 1994;330(20):1450-1.
1994: D R Rosen; P Sapp; J O'Regan; Diane McKenna-Yasek; K S Schlumpf; Jonathan L Haines; James Gusella; H Robert Horvitz; R H Brown
Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers.
American journal of medical genetics 1994;51(1):61-9.
1994: Mia MacCollin; Robert A Peterfreund; Marcy E MacDonald; J Stephen Fink; James Gusella
Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22.
Genomics 1994;20(2):332-3.
1994: Milen Velinov; S A Slaugenhaupt; I Stoilov; C I Scott; James Gusella; Petros Tsipouras
The gene for achondroplasia maps to the telomeric region of chromosome 4p.
Nature genetics 1994;6(3):314-7.
1994: V H Haase; J A Trofatter; Mia MacCollin; E Tarttelin; James Gusella; Vijaya Ramesh
The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms.
Human molecular genetics 1994;3(3):407-11.
1994: G Ali; Wilma Wasco; X Cai; P Szabo; KF Sheu; A J Cooper; S M Gaston; James Gusella; Rudolph E Tanzi; John P Blass
Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of human alpha-ketoglutarate dehydrogenase complex.
Somatic cell and molecular genetics 1994;20(2):99-105.
1994: G T Barnes; Mabel P Duyao; C M Ambrose; S McNeil; Francesca Persichetti; J Srinidhi; James Gusella; Marcy E MacDonald
Mouse Huntington's disease gene homolog (Hdh).
Somatic cell and molecular genetics 1994;20(2):87-97.
1994: A B Bianchi; T Hara; Vijaya Ramesh; J Gao; Andres Klein-Szanto; F Morin; Anil G Menon; J A Trofatter; James Gusella; BR Seizinger
Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types.
Nature genetics 1994;6(2):185-92.
1994: J Attwood; M Chiano; ANDREW COLLINS; H Donis-Keller; N Dracopoli; J Fountain; Catherine T Falk; D Goudie; James Gusella; Jonathan L Haines
CEPH consortium Map of chromosome 9.
Genomics 1994;19(2):203-14.
1994: Terry J Lerner; Rose-Mary N Boustany; K MacCormack; J Gleitsman; K Schlumpf; Xandra O Breakefield; James Gusella; Jonathan L Haines
Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1.
American journal of human genetics 1994;54(1):88-94.
1994: M P Rubio; K M Correa; Vijaya Ramesh; Mia MacCollin; Lee B Jacoby; A von Deimling; James Gusella; David N Louis
Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas.
Cancer research 1994;54(1):45-7.
1994: Andrea Novelletto; Francesca Persichetti; G Sabbadini; Paola Mandich; Emilia Bellone; Franco Ajmar; M Pergola; L Del Senno; Marcy E MacDonald; James Gusella
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease.
Human molecular genetics 1994;3(1):93-8.
1994: H Hummerich; S Baxendale; R Mott; S F Kirby; Marcy E MacDonald; James Gusella; Hans Lehrach; Gillian P Bates
Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene.
Human molecular genetics 1994;3(1):73-8.
1993: David J Kwiatkowski; C Dib; S A Slaugenhaupt; S Povey; James Gusella; Jonathan L Haines
An index marker map of chromosome 9 provides strong evidence for positive interference.
American journal of human genetics 1993;53(6):1279-88.
1993: Mia MacCollin; T Mohney; J Trofatter; Wladimir Wertelecki; Vijaya Ramesh; James Gusella
DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree.
JAMA : the journal of the American Medical Association 1993;270(19):2316-20.
1993: Evgeny I Rogaev; Walter J Lukiw; Giovanna Vaula; Jonathan L Haines; Ekaterina Rogaeva; T Tsuda; N Alexandrova; Yan Liang; M Mortilla; Luigi Amaducci; L Bergamini; A C Bruni; J F Foncin; F Macciardi; M Montesi; Sandro Sorbi; I Rainero; L Pinessi; R J Polinsky; Peter Frommelt; Ranjan Duara; Roberto Lopez; D Pollen; James Gusella; Rudolph E Tanzi; D MacLachlan; D Crapper; Peter St George-Hyslop
Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease.
Neurology 1993;43(11):2275-9.
1993: James Gusella; Marcy E MacDonald; C M Ambrose; Mabel P Duyao
Molecular genetics of Huntington's disease.
Archives of neurology 1993;50(11):1157-63.
1993: Richard H Myers; Marcy E MacDonald; James Gusella
Discrepancy resolved.
Nature genetics 1993;5(3):215.
1993: D M Church; L T Banks; A C Rogers; Sharon L Graw; David E Housman; James Gusella; AJ Buckler
Identification of human chromosome 9 specific genes using exon amplification.
Human molecular genetics 1993;2(11):1915-20.
1993: Elizabeth Petri Henske; L Ozelius; James Gusella; Jonathan L Haines; David J Kwiatkowski
A high-resolution linkage map of human 9q34.1.
Genomics 1993;17(3):587-91.
1993: David N Louis; M P Rubio; K M Correa; James Gusella; A von Deimling
Molecular genetics of pediatric brain stem gliomas. Application of PCR techniques to small and archival brain tumor specimens.
Journal of neuropathology and experimental neurology 1993;52(5):507-15.
1993: James Gusella
Elastic DNA elements--boon or blight?
The New England journal of medicine 1993;329(8):571-2.
1993: R G Snell; J C MacMillan; Jeremy P Cheadle; Iain Fenton; Lazarus Lazarou; Peter Davies; Marcy E MacDonald; James Gusella; Peter S Harper; D J Shaw
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.
Nature genetics 1993;4(4):393-7.
1993: Ann M Saunders; Warren J Strittmatter; Donald E Schmechel; Peter St George-Hyslop; Margaret Pericak-Vance; S H Joo; B L Rosi; James Gusella; D R Crapper-MacLachlan; Mark J Alberts
Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease.
Neurology 1993;43(8):1467-72.
1993: M P Rubio; A von Deimling; D W Yandell; Otmar D Wiestler; James Gusella; David N Louis
Accumulation of wild type p53 protein in human astrocytomas.
Cancer research 1993;53(15):3465-7.
1993: Lindsay A Farrer; L Adrienne Cupples; P Wiater; P M Conneally; James Gusella; Richard H Myers
The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD.
American journal of human genetics 1993;53(1):125-30.
1993: Andrea I McClatchey; Stephen C Cannon; Susan A Slaugenhaupt; James Gusella
The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain.
Human molecular genetics 1993;2(6):745-9.
1993: Andre Bernards; A J Snijders; G E Hannigan; A E Murthy; James Gusella
Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments.
Human molecular genetics 1993;2(6):645-50.
1993: M Watanabe; Ikuko Kondo; S Nissato; A Wakisaka; Tatsushi Toda; J Ikeda; J J Wasmuth; James Gusella; Ichiro Kanazawa
A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families.
The Japanese journal of human genetics 1993;38(2):193-201.
1993: Narayanaswamy Ramesh; Vijaya Ramesh; James Gusella; Raif S Geha
Chromosomal localization of the gene for human B-cell antigen CD40.
Somatic cell and molecular genetics 1993;19(3):295-8.
1993: Danilo A Tagle; K L Blanchard-McQuate; J Valdes; Lucio H Castilla; Marcy E MacDonald; James Gusella; Francis S Collins
Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus.
Human molecular genetics 1993;2(4):489.
1993: Herman E Wyandt; Jeff M Milunsky; T Lerner; James Gusella; A Hou; Marcy E MacDonald; S Adekunle; Aubrey Milunsky
Characterization of a duplication in the terminal band of 4p by molecular cytogenetics.
American journal of medical genetics 1993;46(1):72-6.
1993: Stephen C Cannon; Andrea I McClatchey; James Gusella
Modification of the Na+ current conducted by the rat skeletal muscle alpha subunit by coexpression with a human brain beta subunit.
Pflügers Archiv : European journal of physiology 1993;423(1-2):155-7.
1993: R G Snell; L A Doucette-Stamm; K M Gillespie; S A Taylor; L Riba; Gillian P Bates; M R Altherr; Marcy E MacDonald; James Gusella; J J Wasmuth
The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library.
Human molecular genetics 1993;2(3):305-9.
1993: Mia MacCollin; Donna M Romano; Marcia L Budarf; C Denny; J Trofatter; A Menon; G Rouleau; B Fontaine; B Emanuel; James Gusella
A set of STS assays targeting the chromosome 22 physical framework markers.
Genomics 1993;15(3):680-3.
1993: I The; A E Murthy; G E Hannigan; L B Jacoby; Anil G Menon; James Gusella; Andre Bernards
Neurofibromatosis type 1 gene mutations in neuroblastoma.
Nature genetics 1993;3(1):62-6.
1993: W Yan; Rose-Mary N Boustany; Christine Konradi; Laurie J Ozelius; Terry J Lerner; J A Trofatter; C Julier; Xandra O Breakefield; James Gusella; Jonathan L Haines
Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16.
American journal of human genetics 1993;52(1):89-95.
1993: Margaret Pericak-Vance; Peter St George-Hyslop; Perry C Gaskell; John H Growdon; Barbara J Crain; Christine M Hulette; James Gusella; LH Yamaoka; Rudolph E Tanzi; Allen D Roses
Linkage analysis in familial Alzheimer disease: description of the Duke and Boston data sets.
Genetic epidemiology 1993;10(6):361-4.
1993: James Gusella; Marcy E MacDonald
Hunting for Huntington's disease.
Molecular genetic medicine 1993;3():139-58.
1993: P A Locke; Marcy E MacDonald; J Srinidhi; T C Gilliam; Rudolph E Tanzi; P M Conneally; N S Wexler; Jonathan L Haines; James Gusella
A genetic linkage map of the chromosome 4 short arm.
Somatic cell and molecular genetics 1993;19(1):95-101.
1992: Q Huang; D Zhou; Kathryn O Chase; James Gusella; Neil Aronin; Marian DiFiglia
Immunohistochemical localization of the D1 dopamine receptor in rat brain reveals its axonal transport, pre- and postsynaptic localization, and prevalence in the basal ganglia, limbic system, and thalamic reticular nucleus.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(24):11988-92.
1992: B A Allitto; Andrea I McClatchey; G Barnes; M Altherr; J Wasmuth; A M Frischauf; Marcy E MacDonald; James Gusella
Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4.
Molecular and cellular probes 1992;6(6):513-20.
1992: H S Scott; PV Nelson; Marcy E MacDonald; James Gusella; J J Hopwood; C P Morris
An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus.
Genomics 1992;14(4):1118-20.
1992: Andre Bernards; V H Haase; A E Murthy; A Menon; G E Hannigan; James Gusella
Complete human NF1 cDNA sequence: two alternatively spliced mRNAs and absence of expression in a neuroblastoma line.
DNA and cell biology 1992;11(10):727-34.
1992: Peter St George-Hyslop; Jonathan L Haines; Evgeny I Rogaev; M Mortilla; Giovanna Vaula; Margaret Pericak-Vance; J F Foncin; M Montesi; A Bruni; Sandro Sorbi; I Rainero; L Pinessi; D Pollen; R Polinsky; L Nee; J Kennedy; F Macciardi; E Rogaeva; Y Liang; N Alexandrova; W Lukiw; K Schlumpf; Rudolph E Tanzi; T Tsuda; L Farrer; J M Cantu; Ranjan Duara; L Amaducci; L Bergamini; James Gusella; Allen D Roses; D Crapper McLachlan
Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.
Nature genetics 1992;2(4):330-4.
1992: Wilma Wasco; K Bupp; M Magendantz; James Gusella; Rudolph E Tanzi; Frank Solomon
Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(22):10758-62.
1992: Scott T Grafton; John C Mazziotta; J J Pahl; Peter St George-Hyslop; Jonathan L Haines; James Gusella; J M Hoffman; Lewis R Baxter; Michael E Phelps
Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease.
Archives of neurology 1992;49(11):1161-7.
1992: M R Altherr; James Gusella; JJ Wasmuth; M A Kummer; S W McKercher; V P Johnson
Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome.
American journal of medical genetics 1992;44(4):449-54.
1992: Laurie J Ozelius; David J Kwiatkowski; D E Schuback; Xandra O Breakefield; N S Wexler; James Gusella; Jonathan L Haines
A genetic linkage map of human chromosome 9q.
Genomics 1992;14(3):715-20.
1992: D H Donaldson; D R Rosen; J O'Regan; P C Sapp; H Robert Horvitz; James Gusella; Jonathan L Haines; S Pestka; V Jung; C Nusbaum
Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1).
Human molecular genetics 1992;1(8):651.
1992: Rudolph E Tanzi; Donna M Romano; R Berger; Monika Buraczynska; S M Gaston; David M Kurnit; D Patterson; James Gusella; G D Stewart
Sequence-tagged sites (STSs) for a set of mapped markers on chromosome 21.
Genomics 1992;14(2):498-502.
1992: S Youngman; Gillian P Bates; S Williams; Andrea I McClatchey; S Baxendale; Z Sedlacek; M Altherr; J J Wasmuth; Marcy E MacDonald; James Gusella
The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p.
Genomics 1992;14(2):350-6.
1992: Andrea I McClatchey; C S Lin; J Wang; Eric Hoffman; C Rojas; James Gusella
The genomic structure of the human skeletal muscle sodium channel gene.
Human molecular genetics 1992;1(7):521-7.
1992: Andrea I McClatchey; Diane McKenna-Yasek; D Cros; H G Worthen; R W Kuncl; S M DeSilva; David R Cornblath; James Gusella; R H Brown
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.
Nature genetics 1992;2(2):148-52.
1992: D R Rosen; P C Sapp; J O'Regan; H Robert Horvitz; D H Donaldson; C Nussbaum; James Gusella; Jonathan L Haines; S Pestka; V Jung
Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1.
Human molecular genetics 1992;1(7):547.
1992: J A Trofatter; M L Sytsma; James Gusella; Jonathan L Haines
Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2).
Human molecular genetics 1992;1(6):455.
1992: M R Altherr; S Plummer; Gillian P Bates; Marcy E MacDonald; S Taylor; H Lehrach; A M Frischauf; James Gusella; M Boehnke; JJ Wasmuth
Radiation hybrid map spanning the Huntington disease gene region of chromosome 4.
Genomics 1992;13(4):1040-6.
1992: R G Snell; L M Thompson; D A Tagle; T L Holloway; G Barnes; H G Harley; Lodewijk A Sandkuijl; Marcy E MacDonald; Francis S Collins; James Gusella
A recombination event that redefines the Huntington disease region.
American journal of human genetics 1992;51(2):357-62.
1992: A von Deimling; F von Deimling; David N Louis; J Trofatter; James Gusella; BR Seizinger
A RsaI polymorphism in the ERCC2 locus.
Human molecular genetics 1992;1(5):355.
1992: James Gusella; M R Altherr; Andrea I McClatchey; L A Doucette-Stamm; Danilo A Tagle; S Plummer; N Groot; G Barnes; H Hummerich; Francis S Collins
Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region.
Genomics 1992;13(1):75-80.
1992: S A Taylor; G T Barnes; Marcy E MacDonald; James Gusella
A dinucleotide repeat polymorphism at the D4S127 locus.
Human molecular genetics 1992;1(2):142.
1992: Laurie J Ozelius; D E Schuback; Kari Stefansson; Susan A Slaugenhaupt; James Gusella; Xandra O Breakefield
Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32-34.
Human molecular genetics 1992;1(2):141.
1992: Laurie J Ozelius; Patricia L Kramer; Deborah de Leon; N Risch; Susan Bressman; D E Schuback; Mitchell F Brin; David J Kwiatkowski; Robert E Burke; James Gusella
Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.
American journal of human genetics 1992;50(3):619-28.
1992: Rudolph E Tanzi; P C Watkins; G D Stewart; N S Wexler; James Gusella; Jonathan L Haines
A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age.
American journal of human genetics 1992;50(3):551-8.
1992: D J Kwaitkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S123 locus (9q31-34).
Nucleic acids research 1992;20(4):934.
1992: David J Kwiatkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S121 locus (9q31-34).
Nucleic acids research 1992;20(4):933.
1992: David J Kwiatkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S120 locus (9q31-34).
Nucleic acids research 1992;20(4):933.
1992: David J Kwiatkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S119 locus (9q22-34).
Nucleic acids research 1992;20(4):932.
1992: David J Kwiatkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S118 locus (9q31-34).
Nucleic acids research 1992;20(4):932.
1992: David J Kwiatkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S117 locus (9q31-34).
Nucleic acids research 1992;20(4):931.
1992: David J Kwiatkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S116 locus (9q31-34).
Nucleic acids research 1992;20(4):931.
1992: David J Kwiatkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S115 locus (9q31-34).
Nucleic acids research 1992;20(4):930.
1992: David J Kwiatkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S112 locus (9q31-34).
Nucleic acids research 1992;20(4):930.
1992: Peter St George-Hyslop; H Ohno; James Gusella; Timothy W McKeithan
The BCL3 locus on chromosome 19 displays an informative microsatellite polymorphism.
Nucleic acids research 1992;20(4):927.
1992: Jonathan L Haines; W L Yan; Rose-Mary N Boustany; A Jewell; C Julier; Xandra O Breakefield; James Gusella
Linkage analysis in juvenile neuronal ceroid lipofuscinosis.
American journal of medical genetics 1992;42(4):542-5.
1992: Lewis R Baxter; John C Mazziotta; J J Pahl; Scott T Grafton; Peter St George-Hyslop; Jonathan L Haines; James Gusella; Martin P Szuba; C E Selin; Barry Guze
Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease.
Archives of general psychiatry 1992;49(2):148-54.
1992: David J Kwiatkowski; Elizabeth Petri Henske; K Weimer; L Ozelius; James Gusella; Jonathan L Haines
Construction of a GT polymorphism map of human 9q.
Genomics 1992;12(2):229-40.
1992: T Koizumi; Marcy E MacDonald; M Búcan; J J Hopwood; C P Morris; H S Scott; James Gusella; J H Nadeau
Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.
Mammalian genome : official journal of the International Mammalian Genome Society 1992;3(1):23-7.
1992: C Ambrose; S Cheng; B Fontaine; J H Nadeau; Marcy E MacDonald; James Gusella
The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11.
Mammalian genome : official journal of the International Mammalian Genome Society 1992;3(3):151-5.
1992: Vijaya Ramesh; S V Cheng; C A Kozak; B J Herron; V E Shih; B A Taylor; James Gusella
Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3.
Mammalian genome : official journal of the International Mammalian Genome Society 1992;3(1):17-22.
1992: Jonathan L Haines; J A Trofatter; Rudolph E Tanzi; P Watkins; N S Wexler; P M Conneally; James Gusella
Chromosome 21 genetic linkage data set based on the Venezuelan reference pedigree.
Cytogenetics and cell genetics 1992;59(2-3):88-9.
1992: J K Park; J J O'Donnell; V E Shih; James Gusella; Vijaya Ramesh
A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.
Human mutation 1992;1(4):293-7.
1991: S Baxendale; Gillian P Bates; Marcy E MacDonald; James Gusella; Hans Lehrach
The direct screening of cosmid libraries with YAC clones.
Nucleic acids research 1991;19(23):6651.
1991: M R Altherr; U Bengtsson; F F Elder; David Ledbetter; JJ Wasmuth; M E McDonald; James Gusella; F Greenberg
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4.
American journal of human genetics 1991;49(6):1235-42.
1991: Leslie Michels Thompson; S Plummer; Martin Schalling; M R Altherr; James Gusella; D E Housman; JJ Wasmuth
A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.
Genomics 1991;11(4):1133-42.
1991: Rudolph E Tanzi; Peter St George-Hyslop; James Gusella
Molecular genetics of Alzheimer disease amyloid.
The Journal of biological chemistry 1991;266(31):20579-82.
1991: Christine Konradi; Laurie J Ozelius; W Yan; James Gusella; Xandra O Breakefield
Dinucleotide repeat polymorphism (D16S285) on human chromosome 16.
Nucleic acids research 1991;19(19):5449.
1991: Lazarus Lazarou; R G Snell; Marcy E MacDonald; James Gusella; J J Wasmuth; D J Shaw
MboI RFLP at the D4S43 (C4H) locus.
Nucleic acids research 1991;19(19):5445.
1991: Jonathan L Haines; M P Short; David J Kwiatkowski; A Jewell; E Andermann; B Bejjani; C H Yang; James Gusella; J A Amos
Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.
American journal of human genetics 1991;49(4):764-72.
1991: Marcy E MacDonald; C Lin; L Srinidhi; Gillian P Bates; M Altherr; W L Whaley; Hans Lehrach; J Wasmuth; James Gusella
Complex patterns of linkage disequilibrium in the Huntington disease region.
American journal of human genetics 1991;49(4):723-34.
1991: Glenn T Horn; Andrea I McClatchey; B Richards; Marcy E MacDonald; James Gusella
Detection by PCR of a VNTR polymorphism at D4S43.
Nucleic acids research 1991;19(17):4772.
1991: L A Doucette-Stamm; L Riba; B Handelin; M Difilippantonio; D C Ward; J J Wasmuth; James Gusella; David E Housman
Generation and characterization of irradiation hybrids of human chromosome 4.
Somatic cell and molecular genetics 1991;17(5):471-80.
1991: C S Lin; M Altherr; Gillian P Bates; W L Whaley; A P Read; R Harris; Hans Lehrach; J J Wasmuth; James Gusella; Marcy E MacDonald
New DNA markers in the Huntington's disease gene candidate region.
Somatic cell and molecular genetics 1991;17(5):481-8.
1991: David J Kwiatkowski; Laurie J Ozelius; Patricia L Kramer; S Perman; D E Schuback; James Gusella; Stanley Fahn; Xandra O Breakefield
Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.
American journal of human genetics 1991;49(2):366-71.
1991: B A Allitto; Glenn T Horn; M R Altherr; B Richards; Andrea I McClatchey; J J Wasmuth; James Gusella
Detection by PCR of the VNTR polymorphism at D4S95.
Nucleic acids research 1991;19(14):4015.
1991: Marcy E MacDonald; H S Scott; W L Whaley; T Pohl; J J Wasmuth; Hans Lehrach; C P Morris; A M Frischauf; J J Hopwood; James Gusella
Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.
Somatic cell and molecular genetics 1991;17(4):421-5.
1991: Gillian P Bates; Marcy E MacDonald; S Baxendale; S Youngman; C Lin; W L Whaley; J J Wasmuth; James Gusella; Hans Lehrach
Defined physical limits of the Huntington disease gene candidate region.
American journal of human genetics 1991;49(1):7-16.
1991: J A Trofatter; James Gusella; Jonathan L Haines
Dinucleotide repeat polymorphism at the debrisoquine 4-hydroxylase (CYP2D) locus.
Nucleic acids research 1991;19(10):2802.
1991: S Tzall; F Martiniuk; Laurie J Ozelius; James Gusella; Rochelle Hirschhorn
Further characterization of PstI RFLPs at the acid alpha glucosidase (GAA) locus.
Nucleic acids research 1991;19(7):1727.
1991: B Fontaine; M P Hanson; Jean-Paul Vonsattel; Robert L Martuza; James Gusella
Loss of chromosome 22 alleles in human sporadic spinal schwannomas.
Annals of neurology 1991;29(2):183-6.
1991: Vijaya Ramesh; James Gusella; V E Shih
Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.
Molecular biology & medicine 1991;8(1):81-93.
1991: B Fontaine; G A Rouleau; BR Seizinger; Anil G Menon; A F Jewell; Robert L Martuza; James Gusella
Molecular genetics of neurofibromatosis 2 and related tumors (acoustic neuroma and meningioma).
Annals of the New York Academy of Sciences 1991;615():338-43.
1991: R H Brown; H Robert Horvitz; G A Rouleau; Diane McKenna-Yasek; C Beard; P Sapp; Jonathan L Haines; James Gusella; Denise A Figlewicz
Gene linkage in familial amyotrophic lateral sclerosis: a progress report.
Advances in neurology 1991;56():215-26.
1991: James Gusella
Huntington's disease.
Advances in human genetics 1991;20():125-51.
1991: James Gusella
The search for the genetic defects in Huntington's disease and familial Alzheimer's disease.
Research publications - Association for Research in Nervous and Mental Disease 1991;69():75-83.
1991: B Fontaine; J Trofatter; G A Rouleau; T S Khurana; Jonathan L Haines; R Brown; James Gusella
Different gene loci for hyperkalemic and hypokalemic periodic paralysis.
Neuromuscular disorders : NMD 1991;1(4):235-8.
1990: B Fontaine; G A Rouleau; BR Seizinger; A F Jewell; M P Hanson; Robert L Martuza; James Gusella
Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting.
American journal of human genetics 1990;47(5):823-7.
1990: Andrea I McClatchey; Daniel L Kaufman; E L Berson; Allan J Tobin; V E Shih; James Gusella; Vijaya Ramesh
Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.
American journal of human genetics 1990;47(5):790-4.
1990: Scott T Grafton; John C Mazziotta; J J Pahl; Peter St George-Hyslop; Jonathan L Haines; James Gusella; J M Hoffman; Lewis R Baxter; Michael E Phelps
A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease.
Annals of neurology 1990;28(5):614-21.
1990: B Fontaine; M P Hanson; H C Liou; Laurie H Glimcher; G A Rouleau; James Gusella
BanI polymorphism at the XBP1 locus.
Nucleic acids research 1990;18(18):5578.
1990: Peter St George-Hyslop; Jonathan L Haines; Lindsay A Farrer; R Polinsky; Christine Van Broeckhoven; Alison Goate; D R McLachlan; H Orr; A C Bruni; Sandro Sorbi; I Rainero; J F Foncin; D Pollen; J M Cantu; R Tupler; N Voskresenskaya; Richard Mayeux; J Growden; V A Fried; Richard H Myers; L Nee; H Backhovens; J J Martin; Martin N Rossor; Michael J Owen; Michael Mullan; M E Percy; H Karlinsky; S Rich; L Heston; M Montesi; M Mortilla; N Nacmias; James Gusella; John Hardy
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.
Nature 1990;347(6289):194-7.
1990: Jonathan L Haines; Laurie J Ozelius; H McFarlane; A Menon; S Tzall; F Martiniuk; Rochelle Hirschhorn; James Gusella
A genetic linkage map of chromosome 17.
Genomics 1990;8(1):1-6.
1990: Anil G Menon; James Gusella; BR Seizinger
Progress toward the isolation and characterization of the genes causing neurofibromatosis.
Brain pathology (Zurich, Switzerland) 1990;1(1):33-40.
1990: G A Rouleau; A Bazanowski; James Gusella; Jonathan L Haines
A genetic map of chromosome 1: comparison of different data sets and linkage programs.
Genomics 1990;7(3):313-8.
1990: Gillian P Bates; Marcy E MacDonald; S Baxendale; Z Sedlacek; S Youngman; Donna M Romano; W L Whaley; B A Allitto; A Poustka; James Gusella
A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.
American journal of human genetics 1990;46(4):762-75.
1990: G A Rouleau; BR Seizinger; Wladimir Wertelecki; Jonathan L Haines; D W Superneau; Robert L Martuza; James Gusella
Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.
American journal of human genetics 1990;46(2):323-8.
1990: I Kondo; H Ohta; M Yazaki; J E Ikeda; James Gusella; Ichiro Kanazawa
Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus.
Journal of medical genetics 1990;27(2):105-8.
1990: Rudolph E Tanzi; Jonathan L Haines; James Gusella
Detailed genetic linkage map of human chromosome 21: patterns of recombination according to age and sex.
Progress in clinical and biological research 1990;360():15-26.
1990: Anil G Menon; James Gusella; BR Seizinger
Progress towards the isolation and characterization of the genes causing neurofibromatosis.
Cancer surveys 1990;9(4):689-702.
1990: M R Palmert; Marcia B Podlisny; todd golde; M L Cohen; Dora M. Kovacs; Rudolph E Tanzi; James Gusella; Peter J Whitehouse; D S Witker; Tilman Oltersdorf
Analysis of the beta-amyloid protein precursor of Alzheimer's disease: mRNAs and protein products.
Advances in neurology 1990;51():181-4.
1990: E Ikonen; Jukka U Palo; J Ott; James Gusella; Hannu Somer; L Karila; Aarno Palotie; Leena Peltonen
Huntington disease in Finland: linkage disequilibrium of chromosome 4 RFLP haplotypes and exclusion of a tight linkage between the disease and D4S43 locus.
American journal of human genetics 1990;46(1):5-11.
1989: L Ozelius; James Gusella; X O Breakefield
MspI RFLP for human MAOA gene.
Nucleic acids research 1989;17(24):10516.
1989: Peter St George-Hyslop; Jonathan L Haines; R J Polinsky; Rudolph E Tanzi; Lindsay A Farrer; Richard H Myers; James Gusella
Molecular genetics of familial Alzheimer's disease.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 1989;16(4 Suppl):465-7.
1989: S Youngman; M Sarfarazi; M Bucan; Marcy E MacDonald; B Smith; M Zimmer; C Gilliam; A M Frischauf; J J Wasmuth; James Gusella
A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene.
Genomics 1989;5(4):802-9.
1989: Richard H Myers; J Leavitt; Lindsay A Farrer; J Jagadeesh; H McFarlane; C A Mastromauro; RJ Mark; James Gusella
Homozygote for Huntington disease.
American journal of human genetics 1989;45(4):615-8.
1989: D S Sax; ED Bird; James Gusella; Richard H Myers
Phenotypic variation in 2 Huntington's disease families with linkage to chromosome 4.
Neurology 1989;39(10):1332-6.
1989: Peter St George-Hyslop; Richard H Myers; Jonathan L Haines; Lindsay A Farrer; Rudolph E Tanzi; K Abe; M F James; P M Conneally; R J Polinsky; James Gusella
Familial Alzheimer's disease: progress and problems.
Neurobiology of aging 1989;10(5):417-25.
1989: James Gusella
Location cloning strategy for characterizing genetic defects in Huntington's disease and Alzheimer's disease.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1989;3(9):2036-41.
1989: M L Van Keuren; G D Stewart; C M Bradley; David M Kurnit; R L Neve; P C Watkins; Rudolph E Tanzi; James Gusella; D Patterson
Characterization of an unusual and complex chromosome 21 rearrangement using somatic cell genetics and cloned DNA probes.
American journal of medical genetics 1989;33(3):369-75.
1989: David J Kwiatkowski; Laurie J Ozelius; D Schuback; James Gusella; Xandra O Breakefield
The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs.
Nucleic acids research 1989;17(11):4425.
1989: JW Fountain; M R Wallace; M A Bruce; BR Seizinger; A G Menon; James Gusella; V V Michels; M A Schmidt; G W Dewald; Francis S Collins
Physical mapping of a translocation breakpoint in neurofibromatosis.
Science (New York, N.Y.) 1989;244(4908):1085-7.
1989: Rudolph E Tanzi; Peter St George-Hyslop; James Gusella
Molecular genetic approaches to Alzheimer's disease.
Trends in neurosciences 1989;12(4):152-8.
1989: Peter St George-Hyslop; Rudolph E Tanzi; Jonathan L Haines; R J Polinsky; Lindsay A Farrer; Richard H Myers; James Gusella
Molecular genetics of familial Alzheimer's disease.
European neurology 1989;29 Suppl 3():25-7.
1989: G A Rouleau; Jonathan L Haines; A Bazanowski; A Colella-Crowley; J A Trofatter; N S Wexler; P M Conneally; James Gusella
A genetic linkage map of the long arm of human chromosome 22.
Genomics 1989;4(1):1-6.
1989: M R Palmert; Marcia B Podlisny; todd golde; M L Cohen; Dora M. Kovacs; Rudolph E Tanzi; James Gusella; Peter J Whitehouse; D S Witker; Tilman Oltersdorf
The beta amyloid protein precursor: mRNAs, membrane-associated forms, and soluble derivatives.
Progress in clinical and biological research 1989;317():971-84.
1988: G A Rouleau; A Bazanowski; E H Cohen; G Guellaen; James Gusella
Gamma-glutamyl transferase locus (GGT) displays a PvuII polymorphism.
Nucleic acids research 1988;16(24):11848.
1988: E N Geissler; S V Cheng; James Gusella; David E Housman
Genetic analysis of the dominant white-spotting (W) region on mouse chromosome 5: identification of cloned DNA markers near W.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(24):9635-9.
1988: D Patterson; Katheleen Gardiner; F T Kao; Rudolph E Tanzi; P Watkins; James Gusella
Mapping of the gene encoding the beta-amyloid precursor protein and its relationship to the Down syndrome region of chromosome 21.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(21):8266-70.
1988: Mary C Phelan; C C Morton; Roger E Stevenson; Rudolph E Tanzi; G D Stewart; P C Watkins; James Gusella; J A Amos
Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.
American journal of human genetics 1988;43(4):511-9.
1988: Julia E Richards; T C Gilliam; J L Cole; Mitchell L Drumm; JJ Wasmuth; James Gusella; Francis S Collins
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: M R Palmert; todd golde; M L Cohen; Dora M. Kovacs; Rudolph E Tanzi; James Gusella; M F Usiak; Linda Younkin; Steven G Younkin
Amyloid protein precursor messenger RNAs: differential expression in Alzheimer's disease.
Science (New York, N.Y.) 1988;241(4869):1080-4.
1988: Wladimir Wertelecki; G A Rouleau; D W Superneau; L W Forehand; J P Williams; Jonathan L Haines; James Gusella
Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred.
The New England journal of medicine 1988;319(5):278-83.
1988: Nicoletta Sacchi; S V Cheng; Rudolph E Tanzi; James Gusella; Harry A Drabkin; D Patterson; Jonathan L Haines; TS Papas
The ETS genes on chromosome 21 are distal to the breakpoint of the acute myelogenous leukemia translocation (8;21).
Genomics 1988;3(2):110-6.
1988: Rudolph E Tanzi; Jonathan L Haines; P C Watkins; G D Stewart; M R Wallace; R Hallewell; C Wong; N S Wexler; P M Conneally; James Gusella
Genetic linkage map of human chromosome 21.
Genomics 1988;3(2):129-36.
1988: S V Cheng; Joseph H Nadeau; Rudolph E Tanzi; P C Watkins; J Jagadesh; B A Taylor; Jonathan L Haines; Nicoletta Sacchi; James Gusella
Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(16):6032-6.
1988: Nicoletta Sacchi; James Gusella; Lucia Perroni; Franca Dagna Bricarelli; TS Papas
Lack of evidence for association of meiotic nondisjunction with particular DNA haplotypes on chromosome 21.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(13):4794-8.
1988: Vijaya Ramesh; Andrea I McClatchey; N Ramesh; L A Benoit; E L Berson; V E Shih; James Gusella
Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(11):3777-80.
1988: Sharon L Graw; J Davidson; James Gusella; P Watkins; Rudolph E Tanzi; R Neve; D Patterson
Irradiation-reduced human chromosome 21 hybrids.
Somatic cell and molecular genetics 1988;14(3):233-42.
1988: M Münke; B Foellmer; P C Watkins; J M Cowan; A J Carroll; James Gusella; U Francke
Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes.
American journal of human genetics 1988;42(4):542-9.
1988: G J Meissen; Richard H Myers; C A Mastromauro; Walter J Koroshetz; K W Klinger; Lindsay A Farrer; P A Watkins; James Gusella; ED Bird; J B Martin
Predictive testing for Huntington's disease with use of a linked DNA marker.
The New England journal of medicine 1988;318(9):535-42.
1988: S Youngman; D J Shaw; James Gusella; M MacDonald; E J Stanbridge; J Wasmuth; Peter S Harper
A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3.
Nucleic acids research 1988;16(4):1648.
1988: G A Rouleau; D M Kurnit; R L Neve; A Bazanowsky; D Patterson; James Gusella
D22S15--a fetal brain cDNA with BanII and SacI RFLP.
Nucleic acids research 1988;16(4):1646.
1988: Rudolph E Tanzi; Andrea I McClatchey; E D Lamperti; L Villa-Komaroff; James Gusella; R L Neve
Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease.
Nature 1988;331(6156):528-30.
1988: Vijaya Ramesh; L A Benoit; P Crawford; P T Harvey; T B Shows; V E Shih; James Gusella
The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.
American journal of human genetics 1988;42(2):365-72.
1988: J Wu; Vijaya Ramesh; Judith R Kidd; C M Castiglione; S Myers; N Carson; L Anderson; James Gusella; N E Simpson; Kenneth K Kidd
The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10.
Cytogenetics and cell genetics 1988;48(2):126-7.
1988: Jonathan L Haines; Laurie J Ozelius; Peter St George-Hyslop; N S Wexler; James Gusella; P M Conneally
Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes.
Genetic epidemiology 1988;5(6):375-80.
1988: Patricia L Kramer; Laurie J Ozelius; Mitchell F Brin; Stanley Fahn; Kenneth K Kidd; James Gusella; X O Breakefield
Molecular genetics of an autosomal dominant form of torsion dystonia.
Advances in neurology 1988;50():57-66.
1988: T C Gilliam; James Gusella; Hans Lehrach
Molecular genetic strategies to investigate Huntington's disease.
Advances in neurology 1988;48():17-29.
1988: R L Martuza; B R Seizinger; L B Jacoby; G A Rouleau; James Gusella
The molecular biology of human glial tumors.
Trends in neurosciences 1988;11(1):22-7.
1987: G Holmgren; E W Almqvist; M Anvret; M Conneally; W Hobbs; B Mattsson; J Wahlström; Bengt Winblad; James Gusella
Linkage of G8 (D4S10) in two Swedish families with Huntington's disease.
Clinical genetics 1987;32(5):289-94.
1987: S V Cheng; T Gross Lugo; Rudolph E Tanzi; J B Whitney; R E Fournier; James Gusella
Chromosomal localization of the mouse homolog of the Huntington's disease linked G8 (D4S10) marker.
DNA (Mary Ann Liebert, Inc.) 1987;6(5):401-7.
1987: G A Rouleau; Wladimir Wertelecki; Jonathan L Haines; W J Hobbs; J A Trofatter; BR Seizinger; Robert L Martuza; D W Superneau; P M Conneally; James Gusella
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22.
Nature 1987;329(6136):246-8.
1987: Rudolph E Tanzi; Peter St George-Hyslop; Jonathan L Haines; R J Polinsky; L Nee; J F Foncin; R L Neve; Andrea I McClatchey; P M Conneally; James Gusella
The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene.
Nature 1987;329(6135):156-7.
1987: Marcy E MacDonald; M A Anderson; T C Gilliam; L Tranejaerg; N J Carpenter; E Magenis; Michael R Hayden; S T Healey; T I Bonner; James Gusella
A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene.
Genomics 1987;1(1):29-34.
1987: Marcy E MacDonald; M A Anderson; J L Lockyer; S Milstien; W J Hobbs; A G Faryniarz; S Kaufman; F D Ledley; S L Woo; James Gusella
Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4.
Somatic cell and molecular genetics 1987;13(5):569-74.
1987: B R Seizinger; Suzanne M de la Monte; L Atkins; James Gusella; R L Martuza
Molecular genetic approach to human meningioma: loss of genes on chromosome 22.
Proceedings of the National Academy of Sciences of the United States of America 1987;84(15):5419-23.
1987: Vijaya Ramesh; R Eddy; G A Bruns; V E Shih; T B Shows; James Gusella
Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes.
Human genetics 1987;76(2):121-6.
1987: P C Watkins; R Eddy; A K Beck; V Vellucci; B Leverone; Rudolph E Tanzi; James Gusella; T B Shows
DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11.
DNA (Mary Ann Liebert, Inc.) 1987;6(3):205-12.
1987: P C Watkins; Rudolph E Tanzi; S V Cheng; James Gusella
Molecular genetics of human chromosome 21.
Journal of medical genetics 1987;24(5):257-70.
1987: BR Seizinger; G Rouleau; Laurie J Ozelius; Andrew lane; Peter St George-Hyslop; S Huson; James Gusella; R L Martuza
Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis.
Science (New York, N.Y.) 1987;236(4799):317-9.
1987: K E Davies; James Gusella; L C Tsui; R Williamson; D C Page; M A Ferguson-Smith
Valuable libraries.
Nature 1987;326(6109):124.
1987: T C Gilliam; S T Healey; Marcy E MacDonald; G D Stewart; J J Wasmuth; Rudolph E Tanzi; J C Roy; James Gusella
Isolation of polymorphic DNA fragments from human chromosome 4.
Nucleic acids research 1987;15(4):1445-58.
1987: Rudolph E Tanzi; James Gusella; P C Watkins; G A Bruns; Peter St George-Hyslop; M L Van Keuren; D Patterson; S Pagan; David M Kurnit; R L Neve
Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus.
Science (New York, N.Y.) 1987;235(4791):880-4.
1987: Patricia L Kramer; Laurie J Ozelius; James Gusella; Stanley Fahn; Kenneth K Kidd; X O Breakefield
Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi-point linkage analysis.
Genetic epidemiology 1987;4(5):377-86.
1987: James Gusella; J J Wasmuth
Report of the committee on the genetic constitution of chromosomes 3 and 4.
Cytogenetics and cell genetics 1987;46(1-4):131-46.
1987: BR Seizinger; Robert L Martuza; G Rouleau; X O Breakefield; James Gusella
Models for inherited susceptibility to cancer in the nervous system: a molecular-genetic approach to neurofibromatosis.
Developmental neuroscience 1987;9(3):144-53.
1987: James Gusella; N S Wexler; P M Conneally
A molecular genetic approach to Huntington's disease.
Research publications - Association for Research in Nervous and Mental Disease 1987;65():133-41.
1986: Vijaya Ramesh; M M Shaffer; J M Allaire; V E Shih; James Gusella
Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.
DNA (Mary Ann Liebert, Inc.) 1986;5(6):493-501.
1986: J B Martin; James Gusella
Huntington's disease. Pathogenesis and management.
The New England journal of medicine 1986;315(20):1267-76.
1986: James Gusella
Accuracy of testing for Huntington's disease.
Nature 1986;323(6084):118.
1986: R Ellen Magenis; James Gusella; K Weliky; Susan B Olson; G Haight; S Toth-Fejel; R Sheehy
Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization.
American journal of human genetics 1986;39(3):383-91.
1986: L Ozelius; J L Mandel; James Gusella; X O Breakefield
A new RFLP for D18S3(B74) an anonymous genomic clone localized to 18p113.
Nucleic acids research 1986;14(16):6782.
1986: B R Seizinger; R L Martuza; James Gusella
Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma.
Nature 1986;322(6080):644-7.
1986: S Youngman; M Sarfarazi; O W Quarrell; P M Conneally; K Gibbons; Peter S Harper; D J Shaw; Rudolph E Tanzi; M R Wallace; James Gusella
Studies of a DNA marker (G8) genetically linked to Huntington disease in British families.
Human genetics 1986;73(4):333-9.
1986: M L Van Keuren; P C Watkins; Harry A Drabkin; Ethylin Jabs; James Gusella; D Patterson
Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids.
American journal of human genetics 1986;38(6):793-804.
1986: James Gusella; T C Gilliam; Marcy E MacDonald; S V Cheng; Rudolph E Tanzi
Molecular genetics of human chromosome 4.
Journal of medical genetics 1986;23(3):193-9.
1986: James Gusella
Recombinant DNA techniques in the diagnosis of inherited disorders.
The Journal of clinical investigation 1986;77(6):1723-6.
1986: BR Seizinger; Rudolph E Tanzi; T C Gilliam; J L Bader; D M Parry; M A Spence; M L Marazita; K Gibbons; W Hobbs; James Gusella
Genetic linkage analysis of neurofibromatosis with DNA markers.
Annals of the New York Academy of Sciences 1986;486():304-10.
1986: James Gusella
DNA polymorphism and human disease.
Annual review of biochemistry 1986;55():831-54.
1986: Margaret Pericak-Vance; Deborah A Meyers; James Gusella; Susan E Folstein; P M Conneally
Genetic analysis workshop IV: Huntington disease linkage analysis, data description.
Genetic epidemiology. Supplement 1986;1():193-6.
1986: B U Zabel; Susan Naylor; A Y Sakaguchi; James Gusella
Mapping of the DNA locus D4S10 and the linked Huntington's disease gene to 4p16----p15.
Cytogenetics and cell genetics 1986;42(4):187-90.
1986: James Gusella; T C Gilliam; Rudolph E Tanzi; Marcy E MacDonald; S V Cheng; M Wallace; Jonathan L Haines; P M Conneally; N S Wexler
Molecular genetics of Huntington's disease.
Cold Spring Harbor symposia on quantitative biology 1986;51 Pt 1():359-64.
1986: Kenneth K Kidd; Judith R Kidd; C M Castiglione; M Genel; J Darby; L L Cavalli-Sforza; James Gusella
Linkage analyses of multiple endocrine neoplasia, type 2A (MEN-2A) with 20 DNA polymorphisms: 5% of the genome excluded.
Human heredity 1986;36(4):243-9.
1986: P C Watkins; R Eddy; N Hoffman; P Stanislovitis; A K Beck; J Galli; V Vellucci; James Gusella; T B Shows
Regional assignment of the erythropoietin gene to human chromosome region 7pter----q22.
Cytogenetics and cell genetics 1986;42(4):214-8.
1985: Peter S Harper; S Youngman; M A Anderson; M Sarfarazi; O Quarrell; Rudolph E Tanzi; D Shaw; P Wallace; P M Conneally; James Gusella
Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families.
Journal of medical genetics 1985;22(6):447-50.
1985: James Gusella; Rudolph E Tanzi; P I Bader; M C Phelan; R Stevenson; Michael R Hayden; K J Hofman; A G Faryniarz; K Gibbons
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome.
Nature 1985;318(6041):75-8.
1985: G D Stewart; Rudolph E Tanzi; James Gusella
RFLPS at the D21S19 locus of human chromosome 21.
Nucleic acids research 1985;13(19):7168.
1985: P C Watkins; Rudolph E Tanzi; K T Gibbons; J V Tricoli; G Landes; R Eddy; T B Shows; James Gusella
Isolation of polymorphic DNA segments from human chromosome 21.
Nucleic acids research 1985;13(17):6075-88.
1985: S D Kittur; S E Antonarakis; Rudolph E Tanzi; Deborah A Meyers; Aravinda Chakravarti; Y Groner; J A Phillips; P C Watkins; James Gusella; Haig Kazazian
A linkage map of three anonymous human DNA fragments and SOD-1 on chromosome 21.
The EMBO journal 1985;4(9):2257-60.
1985: B de Martinville; Louis Kunkel; G Bruns; F Morlé; M Koenig; J L Mandel; A Horwich; S A Latt; James Gusella; D Housman
Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.
American journal of human genetics 1985;37(2):235-49.
1985: K K Kidd; James Gusella
Report of the Committee on the Genetic Constitution of Chromosomes 3 and 4.
Cytogenetics and cell genetics 1985;40(1-4):107-27.
1985: D Patterson; M van Keuren; Harry A Drabkin; P Watkins; James Gusella; C Scoggin
Molecular analysis of chromosome 21 using somatic cell hybrids.
Annals of the New York Academy of Sciences 1985;450():109-20.
1985: Haig Kazazian ; S E Antonarakis; C Wong; S P Trusko; Gail Stetten; M Oliver; M J Potter; James Gusella; P C Watkins
Ring chromosome 21: characterization of DNA sequences at sites of breakage and reunion.
Annals of the New York Academy of Sciences 1985;450():33-42.
1985: P M Conneally; James Gusella; N S Wexler
Huntingtons disease: linkage with G8 on chromosome 4 and its consequences.
Progress in clinical and biological research 1985;177():53-60.
1985: N S Wexler; P M Conneally; D Housman; James Gusella
A DNA polymorphism for Huntington's disease marks the future.
Archives of neurology 1985;42(1):20-4.
1985: S E Antonarakis; S D Kittur; C Metaxotou; C Bartsocas; Sophia Kitsiou-Tzeli; P C Watkins; A S Patel; AC Warren; James Gusella; Y Groner
Linkage map on chromosome 21q and the association of a DNA haplotype with a propensity to nondisjunction and trisomy 21.
Annals of the New York Academy of Sciences 1985;450():95-107.
1985: James Gusella; Rudolph E Tanzi; P C Watkins; K T Gibbons; W J Hobbs; A G Faryniarz; S T Healey; M A Anderson
Genetic linkage map for chromosome 21.
Annals of the New York Academy of Sciences 1985;450():25-31.
1984: M A Anderson; James Gusella
Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines.
In vitro 1984;20(11):856-8.
1984: James Gusella
Genetic linkage of the Huntington's disease gene to a DNA marker.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 1984;11(4):421-5.
1984: M D Minden; James Gusella; D Housman
Chromosome-mediated transfer of the malignant phenotype by human acute myelogenous leukemic cells.
Blood 1984;64(4):842-6.
1984: James Gusella; Rudolph E Tanzi; M A Anderson; W Hobbs; K Gibbons; R Raschtchian; T C Gilliam; M R Wallace; N S Wexler; P M Conneally
DNA markers for nervous system diseases.
Science (New York, N.Y.) 1984;225(4668):1320-6.
1984: J A Amos; B C Fleming; James Gusella; L B Jacoby
Relative argininosuccinate synthetase mRNA levels and gene copy number in canavanine-resistant lymphoblasts.
Biochimica et biophysica acta 1984;782(3):247-53.
1984: J H Fisher; James Gusella; C H Scoggin
Molecular hybridization under conditions of high stringency permits cloned DNA segments containing reiterated DNA sequences to be assigned to specific chromosomal locations.
Proceedings of the National Academy of Sciences of the United States of America 1984;81(2):520-4.
1984: P M Conneally; M R Wallace; James Gusella; N S Wexler
Huntington disease: estimation of heterozygote status using linked genetic markers.
Genetic epidemiology 1984;1(1):81-8.
1983: James Gusella; N S Wexler; P M Conneally; Susan Naylor; M A Anderson; Rudolph E Tanzi; P C Watkins; K Ottina; M R Wallace; A Y Sakaguchi
A polymorphic DNA marker genetically linked to Huntington's disease.
Nature 1983;306(5940):234-8.
1983: D Housman; James Gusella
Application of recombinant DNA techniques to neurogenetic disorders.
Research publications - Association for Research in Nervous and Mental Disease 1983;60():167-72.
1982: James Gusella; C Jones; F T Kao; D Housman; T T Puck
Genetic fine-structure mapping in human chromosome 11 by use of repetitive DNA sequences.
Proceedings of the National Academy of Sciences of the United States of America 1982;79(24):7804-8.
1982: James Gusella; A S Tsiftsoglou; Vladimir Volloch; S C Weil; J Neumann; D E Housman
Dissociation of hemoglobin accumulation and commitment during murine erythroleukemia cell differentiation by treatment with imidazole.
Journal of cellular physiology 1982;113(1):179-85.
1982: J W Hoffmann; D Steffen; James Gusella; C Tabin; S Bird; D Cowing; Robert A. Weinberg
DNA methylation affecting the expression of murine leukemia proviruses.
Journal of virology 1982;44(1):144-57.
1982: A S Tsiftsoglou; W Wong; Vladimir Volloch; James Gusella; D Housman
Commitment of murine erythroleukemia (MEL) cells to terminal differentiation is associated with coordinated expression of globin and ribosomal genes.
Progress in clinical and biological research 1982;102 pt A():69-79.
1980: James Gusella; S C Weil; A S Tsiftsoglou; Vladimir Volloch; J R Neumann; C Keys; D E Housman
Hemin does not cause commitment of murine erythroleukemia (MEL) cells to terminal differentiation.
Blood 1980;56(3):481-7.
1980: James Gusella; C Keys; A VarsanyiBreiner; F T Kao; C Jones; T T Puck; D Housman
Isolation and localization of DNA segments from specific human chromosomes.
Proceedings of the National Academy of Sciences of the United States of America 1980;77(5):2829-33.
1980: D Housman; R Levenson; Vladimir Volloch; A Tsiftsoglou; James Gusella; D Parker; J Kernen; A Mitrani; V Weeks; O Witte; Peter Besmer
Control of proliferation and differentiation in cells transformed by Friend virus.
Cold Spring Harbor symposia on quantitative biology 1980;44 Pt 2,():1177-85.
1979: A Varsanyi-Breiner; James Gusella; C Keys; D E Housman; D Sullivan; N Brisson; D P Verma
The organization of a nuclear DNA sequence from a higher plant: molecular cloning and characterization of soybean ribosomal DNA.
Gene 1979;7(3-4):317-34.
1979: James Gusella; A Varsanyi-Breiner; F T Kao; C Jones; T T Puck; C Keys; S Orkin; D Housman
Precise localization of human beta-globin gene complex on chromosome 11.
Proceedings of the National Academy of Sciences of the United States of America 1979;76(10):5239-42.
1979: A S Tsiftsoglou; James Gusella; Vladimir Volloch; D E Housman
Inhibition by dexamethasone of commitment to erythroid differentiation in murine erythroleukemia cells.
Cancer research 1979;39(10):3849-55.
1976: James Gusella; R Geller; B Clarke; V Weeks; D Housman
Commitment to erythroid differentiation by friend erythroleukemia cells: a stochastic analysis.
Cell 1976;9(2):221-9.
1976: James Gusella; D Housman
Induction of erythroid differentiation in vitro by purines and purine analogues.
Cell 1976;8(2):263-9.