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David Altshuler

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Genes & Molecular Sequences

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Wenqing Fu; Stacey Gabriel; Goo Jun; Hyun Min Kang; Suzanne M Leal; Deborah A Nickerson; Timothy D O'Connor; Jay Shendure; Mark J Rieder; Goncalo Abecasis; David Altshuler; Michael Bamshad; Joshua M Akey
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.
Alexander G Bick; Susan Cheng; Steven R Depalma; Jason Flannick; Ervin R Fox; Birgit H Funke; Stacey B Gabriel; Namrata Gupta; Daniel S Herman; Joel N Hirschhorn; Kaoru Ito; Sekar Kathiresan; Christopher Newton-Cheh; Christopher J O'Donnell; Michael G Parfenov; Heidi L Rehm; Jonathan G Seidman; Herman A Taylor; Ramachandran S Vasan; James G Wilson; David Altshuler; Jayashri Aragam; Emelia J Benjamin; Christine Seidman
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.
Jacob A Tennessen; Goncalo Abecasis; Joshua M Akey; David Altshuler; Michael Bamshad; Abigail W Bigham; Eric Boerwinkle; Carlos D Bustamante; Ron Do; Wenqing Fu; Stacey Gabriel; Simon Gravel; Daniel Jordan; Goo Jun; Hyun Min Kang; Eimear E Kenny; Suzanne M Leal; Xiaoming Liu; Sean McGee; Deborah A Nickerson; Timothy D O'Connor; Mark J Rieder; Shamil Sunyaev
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

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All Publications

2013: Wenqing Fu; Stacey Gabriel; Goo Jun; Hyun Min Kang; Suzanne M Leal; Deborah A Nickerson; Timothy D O'Connor; Jay Shendure; Mark J Rieder; Goncalo Abecasis; David Altshuler; Michael Bamshad; Joshua M Akey
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.
Nature 2013;493(7431):216-20.
2012: Alexander G Bick; Susan Cheng; Steven R Depalma; Jason Flannick; Ervin R Fox; Birgit H Funke; Stacey B Gabriel; Namrata Gupta; Daniel S Herman; Joel N Hirschhorn; Kaoru Ito; Sekar Kathiresan; Christopher Newton-Cheh; Christopher J O'Donnell; Michael G Parfenov; Heidi L Rehm; Jonathan G Seidman; Herman A Taylor; Ramachandran S Vasan; James G Wilson; David Altshuler; Jayashri Aragam; Emelia J Benjamin; Christine Seidman
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.
American journal of human genetics 2012;91(3):513-9.
2012: Jacob A Tennessen; Goncalo Abecasis; Joshua M Akey; David Altshuler; Michael Bamshad; Abigail W Bigham; Eric Boerwinkle; Carlos D Bustamante; Ron Do; Wenqing Fu; Stacey Gabriel; Simon Gravel; Daniel Jordan; Goo Jun; Hyun Min Kang; Eimear E Kenny; Suzanne M Leal; Xiaoming Liu; Sean McGee; Deborah A Nickerson; Timothy D O'Connor; Mark J Rieder; Shamil Sunyaev
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
Science (New York, N.Y.) 2012;337(6090):64-9.
2012: David Altshuler
2011 Curt Stern Award address.
American journal of human genetics 2012;90(3):407-9.
2011: Jessica Shea; Brian Thomson; Vineeta Agarwala; David Altshuler; Eric Banks; Noël P Burtt; Mark J Daly; Mark Depristo; Stacey Gabriel; Leif Groop; Candace Guiducci; Sekar Kathiresan; Jared Maguire; Robert C Onofrio; Anthony A Philippakis
Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction.
Nature genetics 2011;43(8):801-5.
2011: Alexander Gusev; Sekar Kathiresan; Eimear E Kenny; Jennifer K Lowe; David Altshuler; Jan L Breslow; Jeffrey M Friedman; Jacqueline Salit; Richa Saxena; Itsik Pe'er
DASH: a method for identical-by-descent haplotype mapping uncovers association with recent variation.
American journal of human genetics 2011;88(6):706-17.
2011: Mark A DePristo; Eric Banks; Ryan Poplin; Kiran V Garimella; Jared R Maguire; Christopher Hartl; Anthony A Philippakis; Guillermo del Angel; Manuel A Rivas; Matt Hanna; Aaron McKenna; Tim J Fennell; Andrew M Kernytsky; Andrey Y Sivachenko; Kristian Cibulskis; Stacey B Gabriel; David Altshuler; Mark J Daly
A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Nature genetics 2011;43(5):491-8.
2011: Benjamin M Neale; Manuel A Rivas; Benjamin F Voight; David Altshuler; Bernie Devlin; Marju Orho-Melander; Sekar Kathiresan; Shaun M Purcell; Kathryn Roeder; Mark J Daly
Testing for an unusual distribution of rare variants.
PLoS genetics 2011;7(3):e1001322.
2011: Eimear E Kenny; Minseung Kim; Alexander Gusev; Jennifer K Lowe; Jacqueline Salit; J Gustav Smith; Sirisha Kovvali; Hyun Min Kang; Christopher Newton-Cheh; Mark J Daly; Markus Stoffel; David Altshuler; Jeffrey M Friedman; Eleazar Eskin; Jan L Breslow; Itsik Pe'er
Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population.
Human molecular genetics 2011;20(4):827-39.
2010: Kiran Musunuru; James P Pirruccello; Ron Do; Gina M Peloso; Candace Guiducci; Carrie Sougnez; Kiran V Garimella; Sheila Fisher; Justin Abreu; Andrew J Barry; Tim Fennell; Eric Banks; Lauren Ambrogio; Kristian Cibulskis; Andrew Kernytsky; Elena Gonzalez; Nicholas Rudzicz; James C Engert; Mark A DePristo; Mark J Daly; Jonathan C Cohen; Helen H Hobbs; David Altshuler; Gustav Schonfeld; Stacey B Gabriel; Pin Yue; Sekar Kathiresan
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
The New England journal of medicine 2010;363(23):2220-7.
2010: Kathleen Jablonski; Jarred B McAteer; Paul I W de Bakker; Paul W Franks; Toni I Pollin; Robert L Hanson; Richa Saxena; Sarah Fowler; Alan R Shuldiner; William C Knowler; David Altshuler; Jose C Florez
Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.
Diabetes 2010;59(10):2672-81.
2010: Soumya Raychaudhuri; Joshua M Korn; Steven A McCarroll; David Altshuler; Pamela Sklar; Shaun Purcell; Mark J Daly
Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function.
PLoS genetics 2010;6(9):e1001097.
2010: Aaron McKenna; Matthew Hanna; Eric Banks; Andrey Sivachenko; Kristian Cibulskis; Andrew Kernytsky; Kiran Garimella; David Altshuler; Stacey Gabriel; Mark J Daly; Mark A DePristo
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Genome research 2010;20(9):1297-303.
2010: Kevin M Waters; Daniel O Stram; Mohamed T Hassanein; Loïc Le Marchand; Lynne R Wilkens; Gertraud Maskarinec; Kristine R Monroe; Laurence N Kolonel; David Altshuler; Brian E Henderson; Christopher A Haiman
Consistent association of type 2 diabetes risk variants found in europeans in diverse racial and ethnic groups.
PLoS genetics 2010;6(8):.
2010: Ayellet V Segrè; Leif Groop; Vamsi K Mootha; Mark J Daly; David Altshuler
Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.
PLoS genetics 2010;6(8):.
2009: Steven A McCarroll; James E Bradner; Hannu Turpeinen; Liisa Volin; Paul J Martin; Shannon D Chilewski; Joseph H Antin; Stephanie J Lee; Tapani Ruutu; Barry Storer; Edus H Warren; Bo Zhang; Lue Ping Zhao; David Ginsburg; Robert J Soiffer; Jukka Partanen; John A Hansen; Jerome Ritz; Aarno Palotie; David Altshuler
Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease.
Nature genetics 2009;41(12):1341-4.
2009: Eimear E Kenny; Alexander Gusev; Kaitlin Riegel; Dieter Lütjohann; Jennifer K Lowe; Jacqueline Salit; Julian B Maller; Markus Stoffel; Mark J Daly; David Altshuler; Jeffrey M Friedman; Jan L Breslow; Itsik Pe'er; Ephraim Sehayek
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.
2009: Steven C Greenway; Alexandre C Pereira; Jennifer C Lin; Steven R Depalma; Samuel J Israel; Sonia M Mesquita; Emel Ergul; Jessie H Conta; Joshua M Korn; Steven A McCarroll; Joshua M Gorham; Stacey Gabriel; David Altshuler; Maria de Lourdes Quintanilla-Dieck; Maria Alexandra Artunduaga; Roland D Eavey; Robert M Plenge; Nancy A Shadick; Michael E Weinblatt; Philip De Jager; David A Hafler; Roger E Breitbart; Jonathan G Seidman; Christine E Seidman
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
Nature genetics 2009;41(8):931-5.
2009: Hélène Choquet; Christine Cavalcanti-Proença; Cécile Lecoeur; Christian Dina; Stéphane Cauchi; Martine Vaxillaire; Samy HADJADJ; Fritz F Horber; Natascha Potoczna; Guillaume Charpentier; Juan Ruiz; Serge Hercberg; Suliya Maimaitiming; Ronan Roussel; Michael Boenhnke; Anne U Jackson; Wolfgang Patsch; Franz Krempler; Benjamin F Voight; David Altshuler; Leif Groop; Gudmar Thorleifsson; Valgerdur Steinthorsdottir; Kari Stefansson; Beverley Balkau; philippe froguel; David Meyre
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.
2009: Soumya Raychaudhuri; Robert M Plenge; Elizabeth J Rossin; Aylwin C Y Ng; Shaun M Purcell; Pamela Sklar; Edward M Scolnick; Ramnik J Xavier; David Altshuler; Mark J Daly
Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.
PLoS genetics 2009;5(6):e1000534.
2009: Jennifer K Lowe; Julian B Maller; Itsik Pe'er; Benjamin M Neale; Jacqueline Salit; Eimear E Kenny; Jessica L Shea; Ralph Burkhardt; J Gustav Smith; Weizhen Ji; Martha Noel; Jia Nee Foo; Maude L Blundell; Vita Skilling; Laura Garcia; Marcia L Sullivan; Heather E Lee; Anna Labek; Hope Ferdowsian; Steven B Auerbach; Richard P Lifton; Christopher Newton-Cheh; Jan L Breslow; Markus Stoffel; Mark J Daly; David Altshuler; Jeffrey M Friedman
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
PLoS genetics 2009;5(2):e1000365.
2009: Alexander Gusev; Jennifer K Lowe; Markus Stoffel; Mark J Daly; David Altshuler; Jan L Breslow; Jeffrey M Friedman; Itsik Pe'er
Whole population, genome-wide mapping of hidden relatedness.
Genome research 2009;19(2):318-26.
2009: Valeriya Lyssenko; Cecilia L F Nagorny; Michael R Erdos; Nils Wierup; Anna Jonsson; Peter Spégel; Marco Bugliani; Richa Saxena; Malin Fex; Nicolo Pulizzi; Bo Isomaa; Tiinamaija Tuomi; Peter Nilsson; Johanna Kuusisto; Jaakko Tuomilehto; Michael Boehnke; David Altshuler; Frank Sundler; Johan G Eriksson; Anne U Jackson; Markku Laakso; Piero Marchetti; Richard M Watanabe; Hindrik Mulder; Leif Groop
Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion.
Nature genetics 2009;41(1):82-8.
2008: Valeriya Lyssenko; Anna Jonsson; Peter Almgren; Nicoló Pulizzi; Bo Isomaa; Tiinamaija Tuomi; Göran Berglund; David Altshuler; Peter Nilsson; Leif Groop
Clinical risk factors, DNA variants, and the development of type 2 diabetes.
The New England journal of medicine 2008;359(21):2220-32.
2008: Edwin Choy; Roman Yelensky; Sasha Bonakdar; Robert M Plenge; Richa Saxena; Philip De Jager; Stanley Y Shaw; Cara S Wolfish; Jacqueline M Slavik; Chris Cotsapas; Manuel Rivas; Emmanouil T Dermitzakis; Ellen Cahir-McFarland; Elliott Kieff; David Hafler; Mark J Daly; David Altshuler
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines.
PLoS genetics 2008;4(11):e1000287.
2008: Ralph Burkhardt; Eimear E Kenny; Jennifer K Lowe; Andrew Birkeland; Rebecca Josowitz; Martha Noel; Jacqueline Salit; Julian B Maller; Itsik Pe'er; Mark J Daly; David Altshuler; Markus Stoffel; Jeffrey M Friedman; Jan L Breslow
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.
2008: Joshua M Korn; Finny G Kuruvilla; Steven A McCarroll; Alec Wysoker; James Nemesh; Simon Cawley; Earl Hubbell; Jim Veitch; Patrick J Collins; Katayoon Darvishi; Charles Lee; Marcia M Nizzari; Stacey B Gabriel; Shaun Purcell; Mark J Daly; David Altshuler
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.
Nature genetics 2008;40(10):1253-60.
2008: Steven A McCarroll; Finny G Kuruvilla; Joshua M Korn; Simon Cawley; James Nemesh; Alec Wysoker; Michael H Shapero; Paul I W de Bakker; Julian B Maller; Andrew Kirby; Amanda Elliott; Melissa Parkin; Earl Hubbell; Teresa Webster; Rui Mei; James Veitch; Patrick J Collins; Robert Handsaker; Steve Lincoln; Marcia Nizzari; John Blume; Keith W Jones; Rich Rava; Mark J Daly; Stacey B Gabriel; David Altshuler
Integrated detection and population-genetic analysis of SNPs and copy number variation.
Nature genetics 2008;40(10):1166-74.
2008: Steven A McCarroll; Alan Huett; Petric Kuballa; Shannon D Chilewski; Aimee Landry; Philippe Goyette; Michael C Zody; Jennifer L Hall; Steven R Brant; Judy H Cho; Richard H Duerr; Mark S Silverberg; Kent D Taylor; John D Rioux; David Altshuler; Mark J Daly; Ramnik Xavier
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease.
Nature genetics 2008;40(9):1107-12.
2008: Robert R Graham; Chris Cotsapas; Leela Davies; Rachel Hackett; Christopher J Lessard; Joanlise M Leon; Noël P Burtt; Candace Guiducci; Melissa Parkin; Casey Gates; Robert M Plenge; timothy wayne behrens; Joan E Wither; John D Rioux; Paul R Fortin; Deborah Cunninghame Graham; Andrew K Wong; Timothy J Vyse; Mark J Daly; David Altshuler; Kathy L Moser; Patrick M Gaffney
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.
Nature genetics 2008;40(9):1059-61.
2008: Allan F Moore; Kathleen Jablonski; Jarred B McAteer; Richa Saxena; Toni I Pollin; Paul W Franks; Robert L Hanson; Alan R Shuldiner; William C Knowler; David Altshuler; Jose C Florez
Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program.
Diabetes 2008;57(9):2503-10.
2008: Itsik Pe'er; Roman Yelensky; David Altshuler; Mark J Daly
Estimation of the multiple testing burden for genomewide association studies of nearly all common variants.
Genetic epidemiology 2008;32(4):381-5.
2008: Sekar Kathiresan; Olle Melander; Dragi Anevski; Candace Guiducci; Noël P Burtt; Charlotta Roos; Joel N Hirschhorn; Göran Berglund; Bo Hedblad; Leif Groop; David Altshuler; Christopher Newton-Cheh; Marju Orho-Melander
Polymorphisms associated with cholesterol and risk of cardiovascular events.
The New England journal of medicine 2008;358(12):1240-9.
2008: Jose C Florez; Kathleen Jablonski; J McAteer; M S Sandhu; N J Wareham; I Barroso; P W Franks; David Altshuler; William C Knowler
Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program.
Diabetologia 2008;51(3):451-7.
2008: Sekar Kathiresan; Olle Melander; Candace Guiducci; Aarti Surti; Noël P Burtt; Mark J Rieder; Gregory Cooper; Charlotta Roos; Benjamin F Voight; Aki S Havulinna; Björn Wahlstrand; Thomas Hedner; Dolores Corella; E Shyong Tai; Jose Ordovas; Göran Berglund; Erkki Vartiainen; Pekka Jousilahti; Bo Hedblad; Marja-Riitta Taskinen; Christopher Newton-Cheh; Veikko Salomaa; Leena Peltonen; Leif Groop; David Altshuler; Marju Orho-Melander
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.
2008: Deborah S Cunninghame Graham; Robert R Graham; Harinder Manku; Andrew K Wong; John C Whittaker; Patrick M Gaffney; Kathy L Moser; John D Rioux; David Altshuler; timothy wayne behrens; Timothy J Vyse
Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus.
Nature genetics 2008;40(1):83-9.
2007: Daphne W Bell; Sang H Kim; Andrew K Godwin; Taryn A Schiripo; Patricia Neal; Sara M Haserlat; Doke C R Wahrer; Christopher A Haiman; Mary B Daly; Kristin B Niendorf; Matthew R Smith; Dennis C Sgroi; Judy E Garber; Olufunmilayo I Olopade; Loïc Le Marchand; Brian Henderson; David Altshuler; Daniel A Haber; Matthew L Freedman
Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.
International journal of cancer. Journal international du cancer 2007;121(12):2661-7.
2007: Paul W Franks; Kathleen Jablonski; L Delahanty; R L Hanson; S E Kahn; David Altshuler; William C Knowler; Jose C Florez
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.
2007: Robert M Plenge; Mark Seielstad; Leonid Padyukov; Annette T Lee; Elaine F Remmers; Bo Ding; Anthony Liew; Houman Khalili; Alamelu Chandrasekaran; Leela R L Davies; Wentian Li; Adrian K S Tan; Carine Bonnard; Rick T H Ong; Anbupalam Thalamuthu; Sven Pettersson; Chunyu Liu; Chao Tian; Wei V Chen; John P Carulli; Evan M Beckman; David Altshuler; Lars Alfredsson; Lindsey A Criswell; Christopher I Amos; Michael F Seldin; Daniel Kastner; Lars Klareskog; Peter K Gregersen
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.
The New England journal of medicine 2007;357(12):1199-209.
2007: Steven A McCarroll; David Altshuler
Copy-number variation and association studies of human disease.
Nature genetics 2007;39(7 Suppl):S37-42.
2007: Jose C Florez; M Sjögren; Christina M Agapakis; Noël P Burtt; Peter Almgren; Ulf Lindblad; G Berglund; Tiinamaija Tuomi; Daniel Gaudet; Mark J Daly; Kristin G Ardlie; J N Hirschhorn; David Altshuler; Leif Groop
Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes.
Diabetologia 2007;50(6):1209-17.
2007: Evan E Eichler; Deborah A Nickerson; David Altshuler; Anne M Bowcock; Lisa D Brooks; Nigel P Carter; Deanna M Church; Adam Felsenfeld; Mark Guyer; Charles Lee; James R Lupski; James C Mullikin; Jonathan Pritchard; Jonathan Sebat; Stephen T Sherry; Douglas Smith; David Valle; Robert H Waterston
Completing the map of human genetic variation.
Nature 2007;447(7141):161-5.
2007: Hemang Parikh; Emma Carlsson; William A Chutkow; Lovisa E Johansson; Heidi Storgaard; Pernille Poulsen; Richa Saxena; Christine Ladd; P Christian Schulze; Michael J Mazzini; Christine B Jensen; Anna Krook; Marie Björnholm; Hans Tornqvist; Juleen R Zierath; Martin Ridderstråle; David Altshuler; Richard T Lee; Allan Vaag; Leif C Groop; Vamsi K Mootha
TXNIP regulates peripheral glucose metabolism in humans.
PLoS medicine 2007;4(5):e158.
2007: Christopher A Haiman; Nick Patterson; Matthew L Freedman; Simon R Myers; Malcolm Pike; Alicja Waliszewska; Julie Neubauer; Arti Tandon; Christine Schirmer; Gavin J McDonald; Steven C Greenway; Daniel O Stram; Loïc Le Marchand; Laurence N Kolonel; Melissa Frasco; David Wong; Loreall Pooler; Kristin G Ardlie; Ingrid Oakley-Girvan; Alice S Whittemore; Kathleen Cooney; Esther M John; Sue A Ingles; David Altshuler; Brian Henderson; David Reich
Multiple regions within 8q24 independently affect risk for prostate cancer.
Nature genetics 2007;39(5):638-44.
2007: Hideharu Sekine; Ricardo C Ferreira; Qiang Pan-Hammarstrom; Robert R Graham; Beth Ziemba; Sandra S de Vries; Jiabin Liu; Keli L Hippen; Thearith Koeuth; Ward A Ortmann; Akiko Iwahori; Margaret K Elliott; Steven Offer; Cara Skon; Likun Du; Jill Novitzke; Annette T Lee; Nianxi Zhao; Joshua D Tompkins; David Altshuler; Peter K Gregersen; Charlotte Cunningham-Rundles; Reuben S Harris; Chengtao Her; David L Nelson; Lennart Hammarström; Gary S Gilkeson; timothy wayne behrens
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.
2007: Robert R Graham; Chieko Kyogoku; Snaevar Sigurdsson; Irina Vlasova - St. Louis; Leela R L Davies; Emily C Baechler; Robert M Plenge; Thearith Koeuth; Ward A Ortmann; Geoffrey Hom; Jason W Bauer; Clarence Gillett; Noël P Burtt; Deborah S Cunninghame-Graham; Robert C Onofrio; Michelle Petri; Iva Gunnarsson; Elisabet Svenungsson; Lars Rönnblom; Gunnel Nordmark; Peter K Gregersen; Kathy Moser; Patrick M Gaffney; Lindsey A Criswell; Timothy J Vyse; Ann-Christine Syvänen; Paul R Bohjanen; Mark J Daly; timothy wayne behrens; David Altshuler
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.
2007: Jose C Florez; Kathleen Jablonski; Maria W Sun; Nick Bayley; Steven E Kahn; Harry Shamoon; Richard Hamman; William C Knowler; David M Nathan; David Altshuler
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.
2007: Wendy Winckler; Michael Weedon; Robert R Graham; Steven A McCarroll; Shaun Purcell; Peter Almgren; Tiinamaija Tuomi; Daniel Gaudet; Kristina Bengtsson Boström; Mark Walker; Graham A Hitman; Andrew T Hattersley; Mark I McCarthy; Kristin G Ardlie; Joel N Hirschhorn; Mark J Daly; Timothy M Frayling; Leif Groop; David Altshuler
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.
2007: Jose C Florez; Kathleen Jablonski; Steven E Kahn; Paul W Franks; Dana Dabelea; Richard Hamman; William C Knowler; David M Nathan; David Altshuler
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.
2007: Sulggi A Lee; Christopher A Haiman; Noël P Burtt; Loreall Pooler; Iona Cheng; Laurence N Kolonel; Malcolm Pike; David Altshuler; Joel N Hirschhorn; Brian Henderson; Daniel O Stram
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.
2006: Veronica Wendy Setiawan; Iona Cheng; Daniel O Stram; Elena Giorgi; Malcolm Pike; David Van Den Berg; Loreall Pooler; Noël P Burtt; Loïc Le Marchand; David Altshuler; Joel N Hirschhorn; Brian Henderson; Christopher A Haiman
A systematic assessment of common genetic variation in CYP11A and risk of breast cancer.
Cancer research 2006;66(24):12019-25.
2006: Jose C Florez; Richa Saxena; Wendy Winckler; Noël P Burtt; Peter Almgren; Kristina Bengtsson Boström; Tiinamaija Tuomi; Daniel Gaudet; Kristin G Ardlie; Mark J Daly; David Altshuler; Joel N Hirschhorn; Leif Groop
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.
2006: Johan Holmkvist; Camilla Cervin; Valeriya Lyssenko; Wendy Winckler; Dragi Anevski; Corrado M Cilio; Peter Almgren; Göran Berglund; Peter Nilsson; Tiinamaija Tuomi; Cecilia M Lindgren; David Altshuler; Leif Groop
Common variants in HNF-1 alpha and risk of type 2 diabetes.
Diabetologia 2006;49(12):2882-91.
2006: Helen N Lyon; Jose C Florez; Todd Bersaglieri; Richa Saxena; Wendy Winckler; Peter Almgren; Ulf Lindblad; Tiinamaija Tuomi; Daniel Gaudet; Xiaofeng Zhu; Richard Cooper; Kristin G Ardlie; Mark J Daly; David Altshuler; Leif Groop; Joel N Hirschhorn
Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity.
Diabetes 2006;55(11):3180-4.
2006: Paul I W de Bakker; Noël P Burtt; Robert R Graham; Candace Guiducci; Roman Yelensky; Jared A Drake; Todd Bersaglieri; Kathryn L Penney; Johannah Butler; Stanton Young; Robert C Onofrio; Helen N Lyon; Daniel O Stram; Christopher A Haiman; Matthew L Freedman; Xiaofeng Zhu; Richard Cooper; Leif Groop; Laurence N Kolonel; Brian Henderson; Mark J Daly; Joel N Hirschhorn; David Altshuler
Transferability of tag SNPs in genetic association studies in multiple populations.
Nature genetics 2006;38(11):1298-303.
2006: Richa Saxena; Lauren Gianniny; Noël P Burtt; Valeriya Lyssenko; Candace Giuducci; Marketa Sjögren; Jose C Florez; Peter Almgren; Bo Isomaa; Marju Orho-Melander; Ulf Lindblad; Mark J Daly; Tiinamaija Tuomi; Joel N Hirschhorn; Kristin G Ardlie; Leif C Groop; David Altshuler
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.
2006: Matthew L Freedman; Christopher A Haiman; Nick Patterson; Gavin J McDonald; Arti Tandon; Alicja Waliszewska; Kathryn L Penney; Robert G Steen; Kristin G Ardlie; Esther M John; Ingrid Oakley-Girvan; Alice S Whittemore; Kathleen Cooney; Sue A Ingles; David Altshuler; Brian Henderson; David Reich
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.
2006: Julian Maller; Sarah George; Shaun Purcell; Jesen Fagerness; David Altshuler; Mark J Daly; Johanna M Seddon
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.
2006: Devin P Locke; andrew sharp; Steven A McCarroll; Sean D McGrath; Tera Newman-Eerkes; Ze Cheng; Stuart Schwartz; Donna G Albertson; Daniel Pinkel; David Altshuler; Evan E Eichler
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.
2006: Jennifer L Freeman; George H Perry; Lars Feuk; Richard Redon; Steven A McCarroll; David Altshuler; Hiroyuki Aburatani; Keith W Jones; Chris Tyler-Smith; Matthew E Hurles; Nigel P Carter; Stephen W Scherer; Charles Lee
Copy number variation: new insights in genome diversity.
Genome research 2006;16(8):949-61.
2006: Jose C Florez; Kathleen Jablonski; Nick Bayley; Toni I Pollin; Paul I W de Bakker; Alan R Shuldiner; William C Knowler; David M Nathan; David Altshuler
TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program.
The New England journal of medicine 2006;355(3):241-50.
2006: Richa Saxena; Paul I W de Bakker; Karyn Singer; Vamsi K Mootha; Noël P Burtt; Joel N Hirschhorn; Daniel Gaudet; Bo Isomaa; Mark J Daly; Leif Groop; Kristin G Ardlie; David Altshuler
Comprehensive association testing of common mitochondrial DNA variation in metabolic disease.
American journal of human genetics 2006;79(1):54-61.
2006: Pardis C Sabeti; Stephen F Schaffner; Ben Fry; Jason Lohmueller; Patrick Varilly; O Shamovsky; A Palma; Tarjei S Mikkelsen; David Altshuler; Eric S Lander
Positive natural selection in the human lineage.
Science (New York, N.Y.) 2006;312(5780):1614-20.
2006: Itsik Pe'er; Paul I W de Bakker; Julian Maller; Roman Yelensky; David Altshuler; Mark J Daly
Evaluating and improving power in whole-genome association studies using fixed marker sets.
Nature genetics 2006;38(6):663-7.
2006: Robert R Graham; Sergey V Kozyrev; Emily C Baechler; M V Prasad Linga Reddy; Robert M Plenge; Jason W Bauer; Ward A Ortmann; Thearith Koeuth; María Francisca González-Escribano; Bernardo A Pons-Estel; Michelle Petri; Mark J Daly; Peter K Gregersen; Javier Martín; David Altshuler; timothy wayne behrens; Marta E Alarcón-Riquelme
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.
2006: Itsik Pe'er; Yves R Chretien; Paul I W de Bakker; Jeffrey C Barrett; Mark J Daly; David Altshuler
Biases and reconciliation in estimates of linkage disequilibrium in the human genome.
American journal of human genetics 2006;78(4):588-603.
2006: Maria W Sun; Jennifer Y Lee; Paul I W de Bakker; Noël P Burtt; Peter Almgren; Lennart Råstam; Tiinamaija Tuomi; Daniel Gaudet; Mark J Daly; Joel N Hirschhorn; David Altshuler; Leif Groop; Jose C Florez
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.
2006: Emily C Walsh; Pardis C Sabeti; Holli B Hutcheson; Ben Fry; Stephen F Schaffner; Paul I W de Bakker; Patrick Varilly; Alejandro A Palma; Jessica Roy; Richard Cooper; Cheryl Winkler; Yi Zeng; Guy de The; Eric S Lander; Stephen O'Brien; David Altshuler
Searching for signals of evolutionary selection in 168 genes related to immune function.
Human genetics 2006;119(1-2):92-102.
2006: Penelope E Bonnen; Itsik Pe'er; Robert M Plenge; Jacqueline Salit; Jennifer K Lowe; Michael H Shapero; Richard P Lifton; Jan L Breslow; Mark J Daly; David E Reich; Keith W Jones; Markus Stoffel; David Altshuler; Jeffrey M Friedman
Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia.
Nature genetics 2006;38(2):214-7.
2006: Iona Cheng; Daniel O Stram; Kathryn L Penney; Malcolm Pike; Loïc Le Marchand; Laurence N Kolonel; Joel N Hirschhorn; David Altshuler; Brian Henderson; Matthew L Freedman
Common genetic variation in IGF1 and prostate cancer risk in the Multiethnic Cohort.
Journal of the National Cancer Institute 2006;98(2):123-34.
2006: Paul I W de Bakker; Robert R Graham; David Altshuler; Brian Henderson; Christopher A Haiman
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.
2006: Steven A McCarroll; Tracy N Hadnott; George H Perry; Pardis C Sabeti; Michael C Zody; Jeffrey C Barrett; Stephanie Dallaire; Stacey B Gabriel; Charles Lee; Mark J Daly; David Altshuler
Common deletion polymorphisms in the human genome.
Nature genetics 2006;38(1):86-92.
2006: Veronica Wendy Setiawan; Iona Cheng; Daniel O Stram; Kathryn L Penney; Loïc Le Marchand; David Altshuler; Laurence N Kolonel; Joel N Hirschhorn; Brian Henderson; Matthew L Freedman
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.
2006: Jose C Florez; Steven Wiltshire; Christina M Agapakis; Noël P Burtt; Paul I W de Bakker; Peter Almgren; Kristina Bengtsson Boström; Tiinamaija Tuomi; Daniel Gaudet; Mark J Daly; Joel N Hirschhorn; Mark I McCarthy; David Altshuler; Leif Groop
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.
2005: Robert M Plenge; Leonid Padyukov; Elaine F Remmers; Shaun Purcell; Annette T Lee; Elizabeth W Karlson; Frederick Wolfe; Daniel Kastner; Lars Alfredsson; David Altshuler; Peter K Gregersen; Lars Klareskog; John D Rioux
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.
2005: Stephen F Schaffner; Catherine Foo; Stacey Gabriel; David Reich; Mark J Daly; David Altshuler
Calibrating a coalescent simulation of human genome sequence variation.
Genome research 2005;15(11):1576-83.
2005: Pardis C Sabeti; Emily Walsh; Stephen F Schaffner; Patrick Varilly; Ben Fry; Holli B Hutcheson; Michael Cullen; Tarjei S Mikkelsen; Jessica Roy; Nick Patterson; Richard Cooper; David Reich; David Altshuler; Stephen O'Brien; Eric S Lander
The case for selection at CCR5-Delta32.
PLoS biology 2005;3(11):e378.
2005: Paul I W de Bakker; Roman Yelensky; Itsik Pe'er; Stacey B Gabriel; Mark J Daly; David Altshuler
Efficiency and power in genetic association studies.
Nature genetics 2005;37(11):1217-23.
2005: Matthew L Freedman; Kathryn L Penney; Daniel O Stram; Stephanie Riley; Roberta McKean-Cowdin; Loïc Le Marchand; David Altshuler; Christopher A Haiman
A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk.
Cancer research 2005;65(16):7516-22.
2005: Wendy Winckler; Noël P Burtt; Johan Holmkvist; Camilla Cervin; Paul I W de Bakker; Maria Sun; Peter Almgren; Tiinamaija Tuomi; Daniel Gaudet; Thomas J Hudson; Kristin G Ardlie; Mark J Daly; Joel N Hirschhorn; David Altshuler; Leif Groop
Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes.
Diabetes 2005;54(8):2336-42.
2005: Catarina D Campbell; Elizabeth L Ogburn; Kathryn L Lunetta; Helen N Lyon; Matthew L Freedman; Leif C Groop; David Altshuler; Kristin G Ardlie; Joel N Hirschhorn
Demonstrating stratification in a European American population.
Nature genetics 2005;37(8):868-72.
2005: Jose C Florez; Christina M Agapakis; Noël P Burtt; Maria Sun; Peter Almgren; Lennart Råstam; Tiinamaija Tuomi; Daniel Gaudet; Thomas J Hudson; Mark J Daly; Kristin G Ardlie; Joel N Hirschhorn; Leif Groop; David Altshuler
Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people.
Diabetes 2005;54(6):1884-91.
2005: David Altshuler; Joel N Hirschhorn
MEF2A sequence variants and coronary artery disease: a change of heart?
The Journal of clinical investigation 2005;115(4):831-3.
2005: Wendy Winckler; Simon R Myers; Daniel J Richter; Robert C Onofrio; Gavin J McDonald; Ronald E Bontrop; Gil McVean; Stacey B Gabriel; David Reich; Peter Donnelly; David Altshuler
Comparison of fine-scale recombination rates in humans and chimpanzees.
Science (New York, N.Y.) 2005;308(5718):107-11.
2005: Wendy Winckler; Robert R Graham; Paul I W de Bakker; Maria Sun; Peter Almgren; Tiinamaija Tuomi; Daniel Gaudet; Thomas J Hudson; Kristin G Ardlie; Mark J Daly; Joel N Hirschhorn; Leif Groop; David Altshuler
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.
2005: David Altshuler; andrew clark
Genetics. Harvesting medical information from the human family tree.
Science (New York, N.Y.) 2005;307(5712):1052-3.
2005: Celeste L Pearce; Joel N Hirschhorn; Anna H Wu; Noël P Burtt; Daniel O Stram; Stanton Young; Laurence N Kolonel; Brian Henderson; David Altshuler; Malcolm Pike
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.
2005: Matthew L Freedman; Celeste L Pearce; Kathryn L Penney; Joel N Hirschhorn; Laurence N Kolonel; Brian Henderson; David Altshuler
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.
2004: Jose C Florez; Marketa Sjögren; Noël P Burtt; Marju Orho-Melander; Steve Schayer; Maria Sun; Peter Almgren; Ulf Lindblad; Tiinamaija Tuomi; Daniel Gaudet; Thomas J Hudson; Mark J Daly; Kristin G Ardlie; Joel N Hirschhorn; David Altshuler; Leif Groop
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.
2004: Matthew L Freedman; Kathryn L Penney; Daniel O Stram; Loïc Le Marchand; Joel N Hirschhorn; Laurence N Kolonel; David Altshuler; Brian Henderson; Christopher A Haiman
Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort.
Human molecular genetics 2004;13(20):2431-41.
2004: Jose C Florez; Noël P Burtt; Paul I W de Bakker; Peter Almgren; Tiinamaija Tuomi; Johan Holmkvist; Daniel Gaudet; Thomas J Hudson; Stephen F Schaffner; Mark J Daly; Joel N Hirschhorn; Leif Groop; David Altshuler
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.
2004: Nick Patterson; Neil Hattangadi; Barton Lane; Kirk E Lohmueller; David A Hafler; Jorge R Oksenberg; Stephen L Hauser; Michael W Smith; Stephen J O'Brien; David Altshuler; Mark J Daly; David Reich
Methods for high-density admixture mapping of disease genes.
American journal of human genetics 2004;74(5):979-1000.
2004: Vamsi K Mootha; Christoph Handschin; Dan Arlow; Xiaohui Xie; Julie St Pierre; Smita Sihag; Wenli Yang; David Altshuler; Pere Puigserver; Nick Patterson; Patricia J Willy; Ira G Schulman; Richard A Heyman; Eric S Lander; Bruce M Spiegelman
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.
2004: Matthew L Freedman; David Reich; Kathryn L Penney; Gavin J McDonald; Andre A Mignault; Nick Patterson; Stacey B Gabriel; Eric J Topol; Jordan W Smoller; Carlos N Pato; Michele T Pato; Tracey L Petryshen; Laurence N Kolonel; Eric S Lander; Pamela Sklar; Brian Henderson; Joel N Hirschhorn; David Altshuler
Assessing the impact of population stratification on genetic association studies.
Nature genetics 2004;36(4):388-93.
2004: J Guillermo Paez; Ming Lin; Rameen Beroukhim; Jeffrey C Lee; Xiaojun Zhao; Daniel J Richter; Stacey Gabriel; Paula Herman; Hidefumi Sasaki; David Altshuler; Cheng Li; Matthew Meyerson; William R Sellers
Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification.
Nucleic acids research 2004;32(9):e71.
2003: Christopher A Haiman; Daniel O Stram; Malcolm Pike; Laurence N Kolonel; Noël P Burtt; David Altshuler; Joel N Hirschhorn; Brian Henderson
A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort.
Human molecular genetics 2003;12(20):2679-92.
2003: Vamsi K Mootha; Cecilia M Lindgren; Karl-Fredrik Eriksson; Aravind Subramanian; Smita Sihag; Joseph Lehar; Pere Puigserver; Emma Carlsson; Martin Ridderstråle; Esa Laurila; Nicholas Houstis; Mark J Daly; Nick Patterson; Jill P Mesirov; Todd R Golub; Pablo Tamayo; Bruce M Spiegelman; Eric S Lander; Joel N Hirschhorn; David Altshuler; Leif C Groop
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes.
Nature genetics 2003;34(3):267-73.
2003: David E Reich; Stacey B Gabriel; David Altshuler
Quality and completeness of SNP databases.
Nature genetics 2003;33(4):457-8.
2003: Daniel O Stram; Celeste Leigh Pearce; Philip Bretsky; Matthew Freedman; Joel N Hirschhorn; David Altshuler; Laurence N Kolonel; Brian Henderson; Duncan C Thomas
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.
2003: Jose C Florez; Joel N Hirschhorn; David Altshuler
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.
2003: Daniel O Stram; Christopher A Haiman; Joel N Hirschhorn; David Altshuler; Laurence N Kolonel; Brian Henderson; Malcolm Pike
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.
2002: Pardis C Sabeti; David E Reich; John M Higgins; Haninah Z P Levine; Daniel J Richter; Stephen F Schaffner; Stacey B Gabriel; Jill Platko; Nick Patterson; Gavin J McDonald; Hans C Ackerman; Sarah J Campbell; David Altshuler; Richard Cooper; Dominic Kwiatkowski; Ryk Ward; Eric S Lander
Detecting recent positive selection in the human genome from haplotype structure.
Nature 2002;419(6909):832-7.
2002: David E Reich; Stephen F Schaffner; Mark J Daly; Gil McVean; James C Mullikin; John M Higgins; Daniel J Richter; Eric S Lander; David Altshuler
Human genome sequence variation and the influence of gene history, mutation and recombination.
Nature genetics 2002;32(1):135-42.
2002: Stacey B Gabriel; Stephen F Schaffner; Huy Nguyen; Jamie M Moore; Jessica Roy; Brendan Blumenstiel; John Higgins; Matthew DeFelice; Amy Lochner; Maura Faggart; Shau Neen Liu-Cordero; Charles N Rotimi; Adebowale Adeyemo; Richard Cooper; Ryk Ward; Eric S Lander; Mark J Daly; David Altshuler
The structure of haplotype blocks in the human genome.
Science (New York, N.Y.) 2002;296(5576):2225-9.
2002: James C Engert; Marie-Claude Vohl; scott williams; Pierre Lepage; J Concepción Loredo-Osti; Janet Faith; Carole Doré; Yannick Renaud; Noël P Burtt; Amélie Villeneuve; Joel N Hirschhorn; David Altshuler; Leif C Groop; Jean-Pierre Després; Daniel Gaudet; Thomas J Hudson
5' flanking variants of resistin are associated with obesity.
Diabetes 2002;51(5):1629-34.
2001: Joel N Hirschhorn; Cecilia M Lindgren; Mark J Daly; Andrew Kirby; Stephen F Schaffner; Noël P Burtt; David Altshuler; A Parker; John D Rioux; Jill Platko; Daniel Gaudet; Thomas J Hudson; Leif C Groop; Eric S Lander
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.
2000: David Altshuler; V J Pollara; C R Cowles; WJ Van Etten; J Baldwin; L Linton; Eric S Lander
An SNP map of the human genome generated by reduced representation shotgun sequencing.
Nature 2000;407(6803):513-6.
2000: David Altshuler; Joel N Hirschhorn; Mia Klannemark; Cecilia M Lindgren; M C Vohl; James Nemesh; C R Lane; Stephen F Schaffner; S Bolk; Carl G Brewer; Tiinamaija Tuomi; Daniel Gaudet; Thomas J Hudson; Mark J Daly; Leif Groop; Eric S Lander
The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes.
Nature genetics 2000;26(1):76-80.
1999: M Cargill; David Altshuler; J Ireland; Pamela Sklar; Kristin G Ardlie; N Patil; N Shaw; C R Lane; E P Lim; N Kalyanaraman; James Nemesh; L Ziaugra; L Friedland; A Rolfe; J Warrington; R Lipshutz; GQ Daley; Eric S Lander
Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Nature genetics 1999;22(3):231-8.
1999: Ronald K Ross; Gerhard A Coetzee; Celeste L Pearce; Juergen K V Reichardt; Philip Bretsky; Laurence N Kolonel; Brian Henderson; E Lander; David Altshuler; G Daley
Androgen metabolism and prostate cancer: establishing a model of genetic susceptibility.
European urology 1999;35(5-6):355-61.