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David Altshuler
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37
Daly, Mark
32
Hirschhorn, Joel
21
Burtt, Noël
19
Groop, Leif
17
Henderson, Brian
16
Florez, Jose
16
Tuomi, Tiinamaija
15
Gaudet, Daniel
14
de Bakker, Paul
14
Almgren, Peter
14
Ardlie, Kristin
13
Kolonel, Laurence
13
Lander, Eric
12
Stram, Daniel
11
Freedman, Matthew
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All Publications
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2009: Kenny Eimear E; Gusev Alexander; Riegel Kaitlin; Lütjohann Dieter; Lowe Jennifer K; Salit Jacqueline; Maller Julian B; Stoffel Markus; Daly Mark J; Altshuler David M; Friedman Jeffrey M; Breslow Jan L; Pe'er Itsik; Sehayek Ephraim
Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(33):13886-91.
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2009: Greenway Steven C; Pereira Alexandre C; Lin Jennifer C; DePalma Steven R; Israel Samuel J; Mesquita Sonia M; Ergul Emel; Conta Jessie H; Korn Joshua M; McCarroll Steven A; Gorham Joshua M; Gabriel Stacey; Altshuler David M; Quintanilla-Dieck Maria de Lourdes; Artunduaga Maria Alexandra; Eavey Roland D; Plenge Robert M; Shadick Nancy A; Weinblatt Michael E; De Jager Philip L; Hafler David A; Breitbart Roger E; Seidman Jonathan G; Seidman Christine E
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
Nature genetics 2009;41(8):931-5.
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2009: Choquet Hélène; Cavalcanti-Proença Christine; Lecoeur Cécile; Dina Christian; Cauchi Stéphane; Vaxillaire Martine; Hadjadj Samy; Horber Fritz; Potoczna Natasha; Charpentier Guillaume; Ruiz Juan; Hercberg Serge; Maimaitiming Suliya; Roussel Ronan; Boenhnke Michael; Jackson Anne U; Patsch Wolfgang; Krempler Franz; Voight Benjamin F; Altshuler David; Groop Leif; Thorleifsson Gudmar; Steinthorsdottir Valgerdur; Stefansson Kari; Balkau Beverley; Froguel Philippe; Meyre David
The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects.
Human molecular genetics 2009;18(13):2495-501.
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2009: Raychaudhuri Soumya; Plenge Robert M; Rossin Elizabeth J; Ng Aylwin C Y; Purcell Shaun M; Sklar Pamela; Scolnick Edward M; Xavier Ramnik J; Altshuler David; Daly Mark J
Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.
PLoS genetics 2009;5(6):e1000534.
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2009: Lowe Jennifer K; Maller Julian B; Pe'er Itsik; Neale Benjamin M; Salit Jacqueline; Kenny Eimear E; Shea Jessica L; Burkhardt Ralph; Smith J Gustav; Ji Weizhen; Noel Martha; Foo Jia Nee; Blundell Maude L; Skilling Vita; Garcia Laura; Sullivan Marcia L; Lee Heather E; Labek Anna; Ferdowsian Hope; Auerbach Steven B; Lifton Richard P; Newton-Cheh Christopher; Breslow Jan L; Stoffel Markus; Daly Mark J; Altshuler David M; Friedman Jeffrey M
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
PLoS genetics 2009;5(2):e1000365.
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2009: Gusev Alexander; Lowe Jennifer K; Stoffel Markus; Daly Mark J; Altshuler David; Breslow Jan L; Friedman Jeffrey M; Pe'er Itsik
Whole population, genome-wide mapping of hidden relatedness.
Genome research 2009;19(2):318-26.
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2009: Lyssenko Valeriya; Nagorny Cecilia L F; Erdos Michael R; Wierup Nils; Jonsson Anna; Spégel Peter; Bugliani Marco; Saxena Richa; Fex Malin; Pulizzi Nicolo; Isomaa Bo; Tuomi Tiinamaija; Nilsson Peter; Kuusisto Johanna; Tuomilehto Jaakko; Boehnke Michael; Altshuler David; Sundler Frank; Eriksson Johan G; Jackson Anne U; Laakso Markku; Marchetti Piero; Watanabe Richard M; Mulder Hindrik; Groop Leif
Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion.
Nature genetics 2009;41(1):82-8.
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2008: Choy Edwin; Yelensky Roman; Bonakdar Sasha; Plenge Robert M; Saxena Richa; De Jager Philip L; Shaw Stanley Y; Wolfish Cara S; Slavik Jacqueline M; Cotsapas Chris; Rivas Manuel; Dermitzakis Emmanouil T; Cahir-McFarland Ellen; Kieff Elliott; Hafler David; Daly Mark J; Altshuler David
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines.
PLoS genetics 2008;4(11):e1000287.
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2008: Lyssenko Valeriya; Jonsson Anna; Almgren Peter; Pulizzi Nicoló; Isomaa Bo; Tuomi Tiinamaija; Berglund Göran; Altshuler David; Nilsson Peter; Groop Leif
Clinical risk factors, DNA variants, and the development of type 2 diabetes.
The New England journal of medicine 2008;359(21):2220-32.
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2008: Burkhardt Ralph; Kenny Eimear E; Lowe Jennifer K; Birkeland Andrew; Josowitz Rebecca; Noel Martha; Salit Jacqueline; Maller Julian B; Pe'er Itsik; Daly Mark J; Altshuler David; Stoffel Markus; Friedman Jeffrey M; Breslow Jan L
Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.
Arteriosclerosis, thrombosis, and vascular biology 2008;28(11):2078-84.
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2008: Korn Joshua M; Kuruvilla Finny G; McCarroll Steven A; Wysoker Alec; Nemesh James; Cawley Simon; Hubbell Earl; Veitch Jim; Collins Patrick J; Darvishi Katayoon; Lee Charles; Nizzari Marcia M; Gabriel Stacey B; Purcell Shaun; Daly Mark J; Altshuler David
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.
Nature genetics 2008;40(10):1253-60.
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2008: McCarroll Steven A; Kuruvilla Finny G; Korn Joshua M; Cawley Simon; Nemesh James; Wysoker Alec; Shapero Michael H; de Bakker Paul I W; Maller Julian B; Kirby Andrew; Elliott Amanda L; Parkin Melissa; Hubbell Earl; Webster Teresa; Mei Rui; Veitch James; Collins Patrick J; Handsaker Robert; Lincoln Steve; Nizzari Marcia; Blume John; Jones Keith W; Rava Rich; Daly Mark J; Gabriel Stacey B; Altshuler David
Integrated detection and population-genetic analysis of SNPs and copy number variation.
Nature genetics 2008;40(10):1166-74.
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2008: McCarroll Steven A; Huett Alan; Kuballa Petric; Chilewski Shannon D; Landry Aimee; Goyette Philippe; Zody Michael C; Hall Jennifer L; Brant Steven R; Cho Judy H; Duerr Richard H; Silverberg Mark S; Taylor Kent D; Rioux John D; Altshuler David; Daly Mark J; Xavier Ramnik J
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease.
Nature genetics 2008;40(9):1107-12.
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2008: Graham Robert R; Cotsapas Chris; Davies Leela; Hackett Rachel; Lessard Christopher J; Leon Joanlise M; Burtt Noel P; Guiducci Candace; Parkin Melissa; Gates Casey; Plenge Robert M; Behrens Timothy W; Wither Joan E; Rioux John D; Fortin Paul R; Graham Deborah Cunninghame; Wong Andrew K; Vyse Timothy J; Daly Mark J; Altshuler David; Moser Kathy L; Gaffney Patrick M
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.
Nature genetics 2008;40(9):1059-61.
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2008: Moore Allan F; Jablonski Kathleen A; McAteer Jarred B; Saxena Richa; Pollin Toni I; Franks Paul W; Hanson Robert L; Shuldiner Alan R; Knowler William C; Altshuler David; Florez Jose C;
Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program.
Diabetes 2008;57(9):2503-10.
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2008: Pe'er Itsik; Yelensky Roman; Altshuler David; Daly Mark J
Estimation of the multiple testing burden for genomewide association studies of nearly all common variants.
Genetic epidemiology 2008;32(4):381-5.
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2008: Kathiresan Sekar; Melander Olle; Anevski Dragi; Guiducci Candace; Burtt Noël P; Roos Charlotta; Hirschhorn Joel N; Berglund Göran; Hedblad Bo; Groop Leif; Altshuler David M; Newton-Cheh Christopher; Orho-Melander Marju
Polymorphisms associated with cholesterol and risk of cardiovascular events.
The New England journal of medicine 2008;358(12):1240-9.
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2008: Florez J C; Jablonski K A; McAteer J; Sandhu M S; Wareham N J; Barroso I; Franks P W; Altshuler D; Knowler W C;
Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program.
Diabetologia 2008;51(3):451-7.
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2008: Kathiresan Sekar; Melander Olle; Guiducci Candace; Surti Aarti; Burtt Noël P; Rieder Mark J; Cooper Gregory M; Roos Charlotta; Voight Benjamin F; Havulinna Aki S; Wahlstrand Björn; Hedner Thomas; Corella Dolores; Tai E Shyong; Ordovas Jose M; Berglund Göran; Vartiainen Erkki; Jousilahti Pekka; Hedblad Bo; Taskinen Marja-Riitta; Newton-Cheh Christopher; Salomaa Veikko; Peltonen Leena; Groop Leif; Altshuler David M; Orho-Melander Marju
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
Nature genetics 2008;40(2):189-97.
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2008: Cunninghame Graham Deborah S; Graham Robert R; Manku Harinder; Wong Andrew K; Whittaker John C; Gaffney Patrick M; Moser Kathy L; Rioux John D; Altshuler David; Behrens Timothy W; Vyse Timothy J
Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus.
Nature genetics 2008;40(1):83-9.
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2007: Franks P W; Jablonski K A; Delahanty L; Hanson R L; Kahn S E; Altshuler D; Knowler W C; Florez J C;
The Pro12Ala variant at the peroxisome proliferator-activated receptor gamma gene and change in obesity-related traits in the Diabetes Prevention Program.
Diabetologia 2007;50(12):2451-60.
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2007: Bell Daphne W; Kim Sang H; Godwin Andrew K; Schiripo Taryn A; Harris Patricia L; Haserlat Sara M; Wahrer Doke C R; Haiman Christopher A; Daly Mary B; Niendorf Kristin B; Smith Matthew R; Sgroi Dennis C; Garber Judy E; Olopade Olufunmilayo I; Le Marchand Loic; Henderson Brian E; Altshuler David; Haber Daniel A; Freedman Matthew L
Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.
International journal of cancer. Journal international du cancer 2007;121(12):2661-7.
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2007: Plenge Robert M; Seielstad Mark; Padyukov Leonid; Lee Annette T; Remmers Elaine F; Ding Bo; Liew Anthony; Khalili Houman; Chandrasekaran Alamelu; Davies Leela R L; Li Wentian; Tan Adrian K S; Bonnard Carine; Ong Rick T H; Thalamuthu Anbupalam; Pettersson Sven; Liu Chunyu; Tian Chao; Chen Wei V; Carulli John P; Beckman Evan M; Altshuler David; Alfredsson Lars; Criswell Lindsey A; Amos Christopher I; Seldin Michael F; Kastner Daniel L; Klareskog Lars; Gregersen Peter K
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.
The New England journal of medicine 2007;357(12):1199-209.
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2007: McCarroll Steven A; Altshuler David M
Copy-number variation and association studies of human disease.
Nature genetics 2007;39(7 Suppl):S37-42.
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2007: Florez J C; Sjögren M; Agapakis C M; Burtt N P; Almgren P; Lindblad U; Berglund G; Tuomi T; Gaudet D; Daly M J; Ardlie K G; Hirschhorn J N; Altshuler D; Groop L
Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes.
Diabetologia 2007;50(6):1209-17.
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2007: Eichler Evan E; Nickerson Deborah A; Altshuler David; Bowcock Anne M; Brooks Lisa D; Carter Nigel P; Church Deanna M; Felsenfeld Adam; Guyer Mark; Lee Charles; Lupski James R; Mullikin James C; Pritchard Jonathan K; Sebat Jonathan; Sherry Stephen T; Smith Douglas; Valle David; Waterston Robert H
Completing the map of human genetic variation.
Nature 2007;447(7141):161-5.
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2007: Parikh Hemang; Carlsson Emma; Chutkow William A; Johansson Lovisa E; Storgaard Heidi; Poulsen Pernille; Saxena Richa; Ladd Christine; Schulze P Christian; Mazzini Michael J; Jensen Christine Bjørn; Krook Anna; Björnholm Marie; Tornqvist Hans; Zierath Juleen R; Ridderstråle Martin; Altshuler David; Lee Richard T; Vaag Allan; Groop Leif C; Mootha Vamsi K
TXNIP regulates peripheral glucose metabolism in humans.
PLoS medicine 2007;4(5):e158.
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2007: Haiman Christopher A; Patterson Nick; Freedman Matthew L; Myers Simon R; Pike Malcolm C; Waliszewska Alicja; Neubauer Julie; Tandon Arti; Schirmer Christine; McDonald Gavin J; Greenway Steven C; Stram Daniel O; Le Marchand Loic; Kolonel Laurence N; Frasco Melissa; Wong David; Pooler Loreall C; Ardlie Kristin; Oakley-Girvan Ingrid; Whittemore Alice S; Cooney Kathleen A; John Esther M; Ingles Sue A; Altshuler David; Henderson Brian E; Reich David
Multiple regions within 8q24 independently affect risk for prostate cancer.
Nature genetics 2007;39(5):638-44.
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2007: Graham Robert R; Kyogoku Chieko; Sigurdsson Snaevar; Vlasova Irina A; Davies Leela R L; Baechler Emily C; Plenge Robert M; Koeuth Thearith; Ortmann Ward A; Hom Geoffrey; Bauer Jason W; Gillett Clarence; Burtt Noel; Cunninghame Graham Deborah S; Onofrio Robert; Petri Michelle; Gunnarsson Iva; Svenungsson Elisabet; Rönnblom Lars; Nordmark Gunnel; Gregersen Peter K; Moser Kathy; Gaffney Patrick M; Criswell Lindsey A; Vyse Timothy J; Syvänen Ann-Christine; Bohjanen Paul R; Daly Mark J; Behrens Timothy W; Altshuler David
Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(16):6758-63.
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2007: Sekine Hideharu; Ferreira Ricardo C; Pan-Hammarström Qiang; Graham Robert R; Ziemba Beth; de Vries Sandra S; Liu Jiabin; Hippen Keli; Koeuth Thearith; Ortmann Ward; Iwahori Akiko; Elliott Margaret K; Offer Steven; Skon Cara; Du Likun; Novitzke Jill; Lee Annette T; Zhao Nianxi; Tompkins Joshua D; Altshuler David; Gregersen Peter K; Cunningham-Rundles Charlotte; Harris Reuben S; Her Chengtao; Nelson David L; Hammarström Lennart; Gilkeson Gary S; Behrens Timothy W
Role for Msh5 in the regulation of Ig class switch recombination.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(17):7193-8.
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2007: Florez Jose C; Jablonski Kathleen A; Sun Maria W; Bayley Nick; Kahn Steven E; Shamoon Harry; Hamman Richard F; Knowler William C; Nathan David M; Altshuler David;
Effects of the type 2 diabetes-associated PPARG P12A polymorphism on progression to diabetes and response to troglitazone.
The Journal of clinical endocrinology and metabolism 2007;92(4):1502-9.
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2007: Winckler Wendy; Weedon Michael N; Graham Robert R; McCarroll Steven A; Purcell Shaun; Almgren Peter; Tuomi Tiinamaija; Gaudet Daniel; Boström Kristina Bengtsson; Walker Mark; Hitman Graham; Hattersley Andrew T; McCarthy Mark I; Ardlie Kristin G; Hirschhorn Joel N; Daly Mark J; Frayling Timothy M; Groop Leif; Altshuler David
Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.
Diabetes 2007;56(3):685-93.
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2007: Florez Jose C; Jablonski Kathleen A; Kahn Steven E; Franks Paul W; Dabelea Dana; Hamman Richard F; Knowler William C; Nathan David M; Altshuler David
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program.
Diabetes 2007;56(2):531-6.
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2007: Lee Sulggi A; Haiman Christopher A; Burtt Noel P; Pooler Loreall C; Cheng Iona; Kolonel Laurence N; Pike Malcolm C; Altshuler David; Hirschhorn Joel N; Henderson Brian E; Stram Daniel O
A comprehensive analysis of common genetic variation in prolactin (PRL) and PRL receptor (PRLR) genes in relation to plasma prolactin levels and breast cancer risk: the multiethnic cohort.
BMC medical genetics 2007;8():72.
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2006: Setiawan Veronica Wendy; Cheng Iona; Stram Daniel O; Giorgi Elena; Pike Malcolm C; Van Den Berg David; Pooler Loreall; Burtt Noel P; Le Marchand Loic; Altshuler David; Hirschhorn Joel; Henderson Brian E; Haiman Christopher A
A systematic assessment of common genetic variation in CYP11A and risk of breast cancer.
Cancer research 2006;66(24):12019-25.
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2006: Florez Jose C; Saxena Richa; Winckler Wendy; Burtt Noël P; Almgren Peter; Bengtsson Boström Kristina; Tuomi Tiinamaija; Gaudet Daniel; Ardlie Kristin G; Daly Mark J; Altshuler David; Hirschhorn Joel N; Groop Leif
The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people.
Diabetes 2006;55(12):3620-4.
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2006: Holmkvist J; Cervin C; Lyssenko V; Winckler W; Anevski D; Cilio C; Almgren P; Berglund G; Nilsson P; Tuomi T; Lindgren C M; Altshuler D; Groop L
Common variants in HNF-1 alpha and risk of type 2 diabetes.
Diabetologia 2006;49(12):2882-91.
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2006: Lyon Helen N; Florez Jose C; Bersaglieri Todd; Saxena Richa; Winckler Wendy; Almgren Peter; Lindblad Ulf; Tuomi Tiinamaija; Gaudet Daniel; Zhu Xiaofeng; Cooper Richard; Ardlie Kristin G; Daly Mark J; Altshuler David; Groop Leif; Hirschhorn Joel N
Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity.
Diabetes 2006;55(11):3180-4.
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2006: de Bakker Paul I W; Burtt Noël P; Graham Robert R; Guiducci Candace; Yelensky Roman; Drake Jared A; Bersaglieri Todd; Penney Kathryn L; Butler Johannah; Young Stanton; Onofrio Robert C; Lyon Helen N; Stram Daniel O; Haiman Christopher A; Freedman Matthew L; Zhu Xiaofeng; Cooper Richard; Groop Leif; Kolonel Laurence N; Henderson Brian E; Daly Mark J; Hirschhorn Joel N; Altshuler David
Transferability of tag SNPs in genetic association studies in multiple populations.
Nature genetics 2006;38(11):1298-303.
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2006: Saxena Richa; Gianniny Lauren; Burtt Noël P; Lyssenko Valeriya; Giuducci Candace; Sjögren Marketa; Florez Jose C; Almgren Peter; Isomaa Bo; Orho-Melander Marju; Lindblad Ulf; Daly Mark J; Tuomi Tiinamaija; Hirschhorn Joel N; Ardlie Kristin G; Groop Leif C; Altshuler David
Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals.
Diabetes 2006;55(10):2890-5.
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2006: Freedman Matthew L; Haiman Christopher A; Patterson Nick; McDonald Gavin J; Tandon Arti; Waliszewska Alicja; Penney Kathryn; Steen Robert G; Ardlie Kristin; John Esther M; Oakley-Girvan Ingrid; Whittemore Alice S; Cooney Kathleen A; Ingles Sue A; Altshuler David; Henderson Brian E; Reich David
Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(38):14068-73.
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2006: Maller Julian; George Sarah; Purcell Shaun; Fagerness Jes; Altshuler David; Daly Mark J; Seddon Johanna M
Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.
Nature genetics 2006;38(9):1055-9.
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2006: Locke Devin P; Sharp Andrew J; McCarroll Steven A; McGrath Sean D; Newman Tera L; Cheng Ze; Schwartz Stuart; Albertson Donna G; Pinkel Daniel; Altshuler David M; Eichler Evan E
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome.
American journal of human genetics 2006;79(2):275-90.
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2006: Freeman Jennifer L; Perry George H; Feuk Lars; Redon Richard; McCarroll Steven A; Altshuler David M; Aburatani Hiroyuki; Jones Keith W; Tyler-Smith Chris; Hurles Matthew E; Carter Nigel P; Scherer Stephen W; Lee Charles
Copy number variation: new insights in genome diversity.
Genome research 2006;16(8):949-61.
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2006: Florez Jose C; Jablonski Kathleen A; Bayley Nick; Pollin Toni I; de Bakker Paul I W; Shuldiner Alan R; Knowler William C; Nathan David M; Altshuler David;
TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program.
The New England journal of medicine 2006;355(3):241-50.
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2006: Saxena Richa; de Bakker Paul I W; Singer Karyn; Mootha Vamsi; Burtt Noel; Hirschhorn Joel N; Gaudet Daniel; Isomaa Bo; Daly Mark J; Groop Leif; Ardlie Kristin G; Altshuler David
Comprehensive association testing of common mitochondrial DNA variation in metabolic disease.
American journal of human genetics 2006;79(1):54-61.
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2006: Sabeti P C; Schaffner S F; Fry B; Lohmueller J; Varilly P; Shamovsky O; Palma A; Mikkelsen T S; Altshuler D; Lander E S
Positive natural selection in the human lineage.
Science (New York, N.Y.) 2006;312(5780):1614-20.
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2006: Pe'er Itsik; de Bakker Paul I W; Maller Julian; Yelensky Roman; Altshuler David; Daly Mark J
Evaluating and improving power in whole-genome association studies using fixed marker sets.
Nature genetics 2006;38(6):663-7.
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2006: Graham Robert R; Kozyrev Sergey V; Baechler Emily C; Reddy M V Prasad Linga; Plenge Robert M; Bauer Jason W; Ortmann Ward A; Koeuth Thearith; González Escribano Ma Francisca; Pons-Estel Bernardo; Petri Michelle; Daly Mark; Gregersen Peter K; Martín Javier; Altshuler David; Behrens Timothy W; Alarcón-Riquelme Marta E
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.
Nature genetics 2006;38(5):550-5.
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2006: Pe'er Itsik; Chretien Yves R; de Bakker Paul I W; Barrett Jeffrey C; Daly Mark J; Altshuler David M
Biases and reconciliation in estimates of linkage disequilibrium in the human genome.
American journal of human genetics 2006;78(4):588-603.
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2006: Sun Maria W; Lee Jennifer Y; de Bakker Paul I W; Burtt Noël P; Almgren Peter; Råstam Lennart; Tuomi Tiinamaija; Gaudet Daniel; Daly Mark J; Hirschhorn Joel N; Altshuler David; Groop Leif; Florez Jose C
Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes.
Diabetes 2006;55(3):849-55.
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2006: Walsh Emily C; Sabeti Pardis; Hutcheson Holli B; Fry Ben; Schaffner Stephen F; de Bakker Paul I W; Varilly Patrick; Palma Alejandro A; Roy Jessica; Cooper Richard; Winkler Cheryl; Zeng Yi; de The Guy; Lander Eric S; O'Brien Stephen; Altshuler David
Searching for signals of evolutionary selection in 168 genes related to immune function.
Human genetics 2006;119(1-2):92-102.
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2006: Bonnen Penelope E; Pe'er Itsik; Plenge Robert M; Salit Jackie; Lowe Jennifer K; Shapero Michael H; Lifton Richard P; Breslow Jan L; Daly Mark J; Reich David E; Jones Keith W; Stoffel Markus; Altshuler David; Friedman Jeffrey M
Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia.
Nature genetics 2006;38(2):214-7.
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2006: McCarroll Steven A; Hadnott Tracy N; Perry George H; Sabeti Pardis C; Zody Michael C; Barrett Jeffrey C; Dallaire Stephanie; Gabriel Stacey B; Lee Charles; Daly Mark J; Altshuler David M;
Common deletion polymorphisms in the human genome.
Nature genetics 2006;38(1):86-92.
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2006: Setiawan Veronica Wendy; Cheng Iona; Stram Daniel O; Penney Kathryn L; Le Marchand Loic; Altshuler David; Kolonel Laurence N; Hirschhorn Joel; Henderson Brian E; Freedman Matthew L
Igf-I genetic variation and breast cancer: the multiethnic cohort.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2006;15(1):172-4.
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2006: Cheng Iona; Stram Daniel O; Penney Kathryn L; Pike Malcolm; Le Marchand Loïc; Kolonel Laurence N; Hirschhorn Joel; Altshuler David; Henderson Brian E; Freedman Matthew L
Common genetic variation in IGF1 and prostate cancer risk in the Multiethnic Cohort.
Journal of the National Cancer Institute 2006;98(2):123-34.
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2006: Florez Jose C; Wiltshire Steven; Agapakis Christina M; Burtt Noël P; de Bakker Paul I W; Almgren Peter; Bengtsson Boström Kristina; Tuomi Tiinamaija; Gaudet Daniel; Daly Mark J; Hirschhorn Joel N; McCarthy Mark I; Altshuler David; Groop Leif
High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people.
Diabetes 2006;55(1):128-35.
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2006: De Bakker Paul I W; Graham Robert R; Altshuler David; Henderson Brian E; Haiman Christopher A
Transferability of tag SNPs to capture common genetic variation in DNA repair genes across multiple populations.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2006;():478-86.
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2005: Plenge Robert M; Padyukov Leonid; Remmers Elaine F; Purcell Shaun; Lee Annette T; Karlson Elizabeth W; Wolfe Frederick; Kastner Daniel L; Alfredsson Lars; Altshuler David; Gregersen Peter K; Klareskog Lars; Rioux John D
Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4.
American journal of human genetics 2005;77(6):1044-60.
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2005: Schaffner Stephen F; Foo Catherine; Gabriel Stacey; Reich David; Daly Mark J; Altshuler David
Calibrating a coalescent simulation of human genome sequence variation.
Genome research 2005;15(11):1576-83.
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2005: Sabeti Pardis C; Walsh Emily; Schaffner Steve F; Varilly Patrick; Fry Ben; Hutcheson Holli B; Cullen Mike; Mikkelsen Tarjei S; Roy Jessica; Patterson Nick; Cooper Richard; Reich David; Altshuler David; O'Brien Stephen; Lander Eric S
The case for selection at CCR5-Delta32.
PLoS biology 2005;3(11):e378.
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2005: de Bakker Paul I W; Yelensky Roman; Pe'er Itsik; Gabriel Stacey B; Daly Mark J; Altshuler David
Efficiency and power in genetic association studies.
Nature genetics 2005;37(11):1217-23.
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2005: Freedman Matthew L; Penney Kathryn L; Stram Daniel O; Riley Stephanie; McKean-Cowdin Roberta; Le Marchand Loïc; Altshuler David; Haiman Christopher A
A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk.
Cancer research 2005;65(16):7516-22.
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2005: Winckler Wendy; Burtt Noël P; Holmkvist Johan; Cervin Camilla; de Bakker Paul I W; Sun Maria; Almgren Peter; Tuomi Tiinamaija; Gaudet Daniel; Hudson Thomas J; Ardlie Kristin G; Daly Mark J; Hirschhorn Joel N; Altshuler David; Groop Leif
Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes.
Diabetes 2005;54(8):2336-42.
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2005: Campbell Catarina D; Ogburn Elizabeth L; Lunetta Kathryn L; Lyon Helen N; Freedman Matthew L; Groop Leif C; Altshuler David; Ardlie Kristin G; Hirschhorn Joel N
Demonstrating stratification in a European American population.
Nature genetics 2005;37(8):868-72.
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2005: Florez Jose C; Agapakis Christina M; Burtt Noël P; Sun Maria; Almgren Peter; Råstam Lennart; Tuomi Tiinamaija; Gaudet Daniel; Hudson Thomas J; Daly Mark J; Ardlie Kristin G; Hirschhorn Joel N; Groop Leif; Altshuler David
Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people.
Diabetes 2005;54(6):1884-91.
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2005: Altshuler David; Hirschhorn Joel N
MEF2A sequence variants and coronary artery disease: a change of heart?
The Journal of clinical investigation 2005;115(4):831-3.
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2005: Winckler Wendy; Myers Simon R; Richter Daniel J; Onofrio Robert C; McDonald Gavin J; Bontrop Ronald E; McVean Gilean A T; Gabriel Stacey B; Reich David; Donnelly Peter; Altshuler David
Comparison of fine-scale recombination rates in humans and chimpanzees.
Science (New York, N.Y.) 2005;308(5718):107-11.
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2005: Winckler Wendy; Graham Robert R; de Bakker Paul I W; Sun Maria; Almgren Peter; Tuomi Tiinamaija; Gaudet Daniel; Hudson Thomas J; Ardlie Kristin G; Daly Mark J; Hirschhorn Joel N; Groop Leif; Altshuler David
Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people.
Diabetes 2005;54(3):886-92.
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2005: Altshuler David; Clark Andrew G
Genetics. Harvesting medical information from the human family tree.
Science (New York, N.Y.) 2005;307(5712):1052-3.
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2005: Pearce Celeste Leigh; Hirschhorn Joel N; Wu Anna H; Burtt Noël P; Stram Daniel O; Young Stanton; Kolonel Laurence N; Henderson Brian E; Altshuler David; Pike Malcolm C
Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis.
Journal of the National Cancer Institute 2005;97(1):51-9.
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2005: Freedman Matthew L; Pearce Celeste L; Penney Kathryn L; Hirschhorn Joel N; Kolonel Laurence N; Henderson Brian E; Altshuler David
Systematic evaluation of genetic variation at the androgen receptor locus and risk of prostate cancer in a multiethnic cohort study.
American journal of human genetics 2005;76(1):82-90.
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2004: Florez Jose C; Sjögren Marketa; Burtt Noël; Orho-Melander Marju; Schayer Steve; Sun Maria; Almgren Peter; Lindblad Ulf; Tuomi Tiinamaija; Gaudet Daniel; Hudson Thomas J; Daly Mark J; Ardlie Kristin G; Hirschhorn Joel N; Altshuler David; Groop Leif
Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes.
Diabetes 2004;53(12):3313-8.
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2004: Freedman Matthew L; Penney Kathryn L; Stram Daniel O; Le Marchand Loïc; Hirschhorn Joel N; Kolonel Laurence N; Altshuler David; Henderson Brian E; Haiman Christopher A
Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort.
Human molecular genetics 2004;13(20):2431-41.
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2004: Florez Jose C; Burtt Noël; de Bakker Paul I W; Almgren Peter; Tuomi Tiinamaija; Holmkvist Johan; Gaudet Daniel; Hudson Thomas J; Schaffner Steve F; Daly Mark J; Hirschhorn Joel N; Groop Leif; Altshuler David
Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region.
Diabetes 2004;53(5):1360-8.
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2004: Patterson Nick; Hattangadi Neil; Lane Barton; Lohmueller Kirk E; Hafler David A; Oksenberg Jorge R; Hauser Stephen L; Smith Michael W; O'Brien Stephen J; Altshuler David; Daly Mark J; Reich David
Methods for high-density admixture mapping of disease genes.
American journal of human genetics 2004;74(5):979-1000.
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2004: Mootha Vamsi K; Handschin Christoph; Arlow Dan; Xie Xiaohui; St Pierre Julie; Sihag Smita; Yang Wenli; Altshuler David; Puigserver Pere; Patterson Nick; Willy Patricia J; Schulman Ira G; Heyman Richard A; Lander Eric S; Spiegelman Bruce M
Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(17):6570-5.
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2004: Freedman Matthew L; Reich David; Penney Kathryn L; McDonald Gavin J; Mignault Andre A; Patterson Nick; Gabriel Stacey B; Topol Eric J; Smoller Jordan W; Pato Carlos N; Pato Michele T; Petryshen Tracey L; Kolonel Laurence N; Lander Eric S; Sklar Pamela; Henderson Brian; Hirschhorn Joel N; Altshuler David
Assessing the impact of population stratification on genetic association studies.
Nature genetics 2004;36(4):388-93.
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2004: Paez J Guillermo; Lin Ming; Beroukhim Rameen; Lee Jeffrey C; Zhao Xiaojun; Richter Daniel J; Gabriel Stacey; Herman Paula; Sasaki Hidefumi; Altshuler David; Li Cheng; Meyerson Matthew; Sellers William R
Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification.
Nucleic acids research 2004;32(9):e71.
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2003: Haiman Christopher A; Stram Daniel O; Pike Malcolm C; Kolonel Laurence N; Burtt Noel P; Altshuler David; Hirschhorn Joel; Henderson Brian E
A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort.
Human molecular genetics 2003;12(20):2679-92.
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2003: Mootha Vamsi K; Lindgren Cecilia M; Eriksson Karl-Fredrik; Subramanian Aravind; Sihag Smita; Lehar Joseph; Puigserver Pere; Carlsson Emma; Ridderstråle Martin; Laurila Esa; Houstis Nicholas; Daly Mark J; Patterson Nick; Mesirov Jill P; Golub Todd R; Tamayo Pablo; Spiegelman Bruce; Lander Eric S; Hirschhorn Joel N; Altshuler David; Groop Leif C
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes.
Nature genetics 2003;34(3):267-73.
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2003: Reich David E; Gabriel Stacey B; Altshuler David
Quality and completeness of SNP databases.
Nature genetics 2003;33(4):457-8.
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2003: Stram Daniel O; Leigh Pearce Celeste; Bretsky Phillip; Freedman Matthew; Hirschhorn Joel N; Altshuler David; Kolonel Laurence N; Henderson Brian E; Thomas Duncan C
Modeling and E-M estimation of haplotype-specific relative risks from genotype data for a case-control study of unrelated individuals.
Human heredity 2003;55(4):179-90.
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2003: Florez Jose C; Hirschhorn Joel; Altshuler David
The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits.
Annual review of genomics and human genetics 2003;4():257-91.
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2003: Stram Daniel O; Haiman Christopher A; Hirschhorn Joel N; Altshuler David; Kolonel Laurence N; Henderson Brian E; Pike Malcolm C
Choosing haplotype-tagging SNPS based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study.
Human heredity 2003;55(1):27-36.
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2002: Sabeti Pardis C; Reich David E; Higgins John M; Levine Haninah Z P; Richter Daniel J; Schaffner Stephen F; Gabriel Stacey B; Platko Jill V; Patterson Nick J; McDonald Gavin J; Ackerman Hans C; Campbell Sarah J; Altshuler David; Cooper Richard; Kwiatkowski Dominic; Ward Ryk; Lander Eric S
Detecting recent positive selection in the human genome from haplotype structure.
Nature 2002;419(6909):832-7.
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2002: Reich David E; Schaffner Stephen F; Daly Mark J; McVean Gil; Mullikin James C; Higgins John M; Richter Daniel J; Lander Eric S; Altshuler David
Human genome sequence variation and the influence of gene history, mutation and recombination.
Nature genetics 2002;32(1):135-42.
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2002: Gabriel Stacey B; Schaffner Stephen F; Nguyen Huy; Moore Jamie M; Roy Jessica; Blumenstiel Brendan; Higgins John; DeFelice Matthew; Lochner Amy; Faggart Maura; Liu-Cordero Shau Neen; Rotimi Charles; Adeyemo Adebowale; Cooper Richard; Ward Ryk; Lander Eric S; Daly Mark J; Altshuler David
The structure of haplotype blocks in the human genome.
Science (New York, N.Y.) 2002;296(5576):2225-9.
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2002: Engert James C; Vohl Marie-Claude; Williams Scott M; Lepage Pierre; Loredo-Osti J C; Faith Janet; Doré Carole; Renaud Yannick; Burtt Noël P; Villeneuve Amélie; Hirschhorn Joel N; Altshuler David; Groop Leif C; Després Jean-Pierre; Gaudet Daniel; Hudson Thomas J
5' flanking variants of resistin are associated with obesity.
Diabetes 2002;51(5):1629-34.
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2001: Hirschhorn J N; Lindgren C M; Daly M J; Kirby A; Schaffner S F; Burtt N P; Altshuler D; Parker A; Rioux J D; Platko J; Gaudet D; Hudson T J; Groop L C; Lander E S
Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height.
American journal of human genetics 2001;69(1):106-16.
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2000: Altshuler D; Pollara V J; Cowles C R; Van Etten W J; Baldwin J; Linton L; Lander E S
An SNP map of the human genome generated by reduced representation shotgun sequencing.
Nature 2000;407(6803):513-6.
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2000: Altshuler D; Hirschhorn J N; Klannemark M; Lindgren C M; Vohl M C; Nemesh J; Lane C R; Schaffner S F; Bolk S; Brewer C; Tuomi T; Gaudet D; Hudson T J; Daly M; Groop L; Lander E S
The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes.
Nature genetics 2000;26(1):76-80.
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1999: Cargill M; Altshuler D; Ireland J; Sklar P; Ardlie K; Patil N; Shaw N; Lane C R; Lim E P; Kalyanaraman N; Nemesh J; Ziaugra L; Friedland L; Rolfe A; Warrington J; Lipshutz R; Daley G Q; Lander E S
Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Nature genetics 1999;22(3):231-8.
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1999: Ross R K; Coetzee G A; Pearce C L; Reichardt J K; Bretsky P; Kolonel L N; Henderson B E; Lander E; Altshuler D; Daley G
Androgen metabolism and prostate cancer: establishing a model of genetic susceptibility.
European urology 1999;35(5-6):355-61.
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