David Altshuler - Publications

Affiliations: 
Harvard/MIT/Broad Institute, Cambridge, MA, United States 
Area:
human genetic variation and its application to disease
Website:
http://www.broad.mit.edu/about/bios/bio-altshuler.html

223 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Lagou V, Mägi R, Hottenga JJ, Grallert H, Perry JRB, Bouatia-Naji N, Marullo L, Rybin D, Jansen R, Min JL, Dimas AS, Ulrich A, Zudina L, Gådin JR, Jiang L, ... ... Altshuler D, et al. Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability. Nature Communications. 12: 995. PMID 33558525 DOI: 10.1038/s41467-021-21276-3  0.32
2021 Lagou V, Mägi R, Hottenga JJ, Grallert H, Perry JRB, Bouatia-Naji N, Marullo L, Rybin D, Jansen R, Min JL, Dimas AS, Ulrich A, Zudina L, Gådin JR, Jiang L, ... ... Altshuler D, et al. Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability. Nature Communications. 12: 24. PMID 33402679 DOI: 10.1038/s41467-020-19366-9  0.32
2019 Flannick J, Mercader JM, Fuchsberger C, Udler MS, Mahajan A, Wessel J, Teslovich TM, Caulkins L, Koesterer R, Barajas-Olmos F, Blackwell TW, Boerwinkle E, Brody JA, Centeno-Cruz F, Chen L, ... ... Altshuler D, et al. Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. Nature. PMID 31118516 DOI: 10.1038/s41586-019-1231-2  0.4
2019 Artomov M, Joseph V, Tiao G, Thomas T, Schrader K, Klein RJ, Kiezun A, Gupta N, Margolin L, Stratigos AJ, Kim I, Shannon K, Ellisen LW, Haber D, Getz G, ... ... Altshuler D, et al. Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes. European Journal of Human Genetics : Ejhg. PMID 30718883 DOI: 10.1038/s41431-019-0346-0  0.32
2018 Gusarova V, O'Dushlaine C, Teslovich TM, Benotti PN, Mirshahi T, Gottesman O, Van Hout CV, Murray MF, Mahajan A, Nielsen JB, Fritsche L, Wulff AB, Gudbjartsson DF, Sjögren M, Emdin CA, ... ... Altshuler D, et al. Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes. Nature Communications. 9: 2252. PMID 29899519 DOI: 10.1038/S41467-018-04611-Z  0.4
2018 Flannick J, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R, Ma C, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, ... ... Altshuler D, et al. Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Scientific Data. 5: 180002. PMID 29360107 DOI: 10.1038/sdata.2018.2  0.48
2017 Jason F, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R, Ma C, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, ... ... Altshuler D, et al. Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Scientific Data. 4: 170179. PMID 29257133 DOI: 10.1038/Sdata.2017.179  0.4
2017 Mercader JM, Liao RG, Davis A, Dymek Z, Estrada K, Tukiainen T, Huerta-Chagoya A, Moreno-Macías H, Jablonski KA, Hanson RL, Walford GA, Moran I, Chen L, Agarwala V, Ordoñez-Sánchez ML, ... ... Altshuler D, et al. A Loss-Of-Function Splice Acceptor Variant in IGF2 is Protective for Type 2 Diabetes. Diabetes. PMID 28838971 DOI: 10.2337/Db17-0187  0.4
2017 Rusu V, Hoch E, Mercader JM, Tenen DE, Gymrek M, Hartigan CR, DeRan M, von Grotthuss M, Fontanillas P, Spooner A, Guzman G, Deik AA, Pierce KA, Dennis C, Clish CB, ... ... Altshuler DM, et al. Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms. Cell. 170: 199-212.e20. PMID 28666119 DOI: 10.1016/J.Cell.2017.06.011  0.48
2017 Manning A, Highland HM, Gasser J, Sim X, Tukiainen T, Fontanillas P, Grarup N, Rivas MA, Mahajan A, Locke AE, Cingolani P, Pers TH, Viñuela A, Brown AA, Wu Y, ... ... Altshuler D, et al. A Low-Frequency Inactivating Akt2 Variant Enriched in the Finnish Population is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. Diabetes. PMID 28341696 DOI: 10.2337/Db16-1329  0.32
2016 Najmi LA, Aukrust I, Flannick J, Molnes J, Burtt N, Molven A, Groop L, Altshuler D, Johansson S, Bjørkhaug L, Njølstad PR. Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population. Diabetes. PMID 27899486 DOI: 10.2337/Db16-0460  0.4
2016 Auer PL, Reiner AP, Wang G, Kang HM, Abecasis GR, Altshuler D, Bamshad MJ, Nickerson DA, Tracy RP, Rich SS, Leal SM. Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project. American Journal of Human Genetics. PMID 27666372 DOI: 10.1016/J.Ajhg.2016.08.012  0.4
2016 McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, Luo Y, Sidore C, Kwong A, Timpson N, Koskinen S, ... ... Altshuler D, et al. A reference panel of 64,976 haplotypes for genotype imputation. Nature Genetics. PMID 27548312 DOI: 10.1038/Ng.3643  0.4
2016 Peloso GM, Lange LA, Varga TV, Nickerson DA, Smith JD, Griswold ME, Musani S, Polfus LM, Mei H, Gabriel S, Quarells RC, Altshuler D, Boerwinkle E, Daly MJ, Neale B, et al. Association of Exome Sequences with Cardiovascular Traits among African Americans in the Jackson Heart Study. Circulation. Cardiovascular Genetics. PMID 27422940 DOI: 10.1161/Circgenetics.116.001410  0.4
2016 Clapham KR, Chu AY, Wessel J, Natarajan P, Flannick J, Rivas MA, Sartori S, Mehran R, Baber U, Fuster V, Scott RA, Rader DJ, Boehnke M, McCarthy MI, Altshuler DM, et al. A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans. Bmc Endocrine Disorders. 16: 7. PMID 26822414 DOI: 10.1186/S12902-016-0088-8  0.88
2015 Kim YJ, Lee J, Kim BJ, Park T. A new strategy for enhancing imputation quality of rare variants from next-generation sequencing data via combining SNP and exome chip data. Bmc Genomics. 16: 1109. PMID 26715385 DOI: 10.1186/s12864-015-2192-y  0.4
2015 Usher CL, Handsaker RE, Esko T, Tuke MA, Weedon MN, Hastie AR, Cao H, Moon JE, Kashin S, Fuchsberger C, Metspalu A, Pato CN, Pato MT, McCarthy MI, Boehnke M, ... Altshuler DM, et al. Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity. Nature Genetics. PMID 26098870 DOI: 10.1038/Ng.3340  0.4
2015 Moutsianas L, Agarwala V, Fuchsberger C, Flannick J, Rivas MA, Gaulton KJ, Albers PK, McVean G, Boehnke M, Altshuler D, McCarthy MI. The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease. Plos Genetics. 11: e1005165. PMID 25906071 DOI: 10.1371/Journal.Pgen.1005165  0.4
2015 Dai N, Zhao L, Wrighting D, Krämer D, Majithia A, Wang Y, Cracan V, Borges-Rivera D, Mootha VK, Nahrendorf M, Thorburn DR, Minichiello L, Altshuler D, Avruch J. IGF2BP2/IMP2-Deficient mice resist obesity through enhanced translation of Ucp1 mRNA and Other mRNAs encoding mitochondrial proteins. Cell Metabolism. 21: 609-21. PMID 25863250 DOI: 10.1016/J.Cmet.2015.03.006  0.4
2015 Betz RC, Petukhova L, Ripke S, Huang H, Menelaou A, Redler S, Becker T, Heilmann S, Yamany T, Duvic M, Hordinsky M, Norris D, Price VH, Mackay-Wiggan J, de Jong A, ... ... Altshuler D, et al. Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. Nature Communications. 6: 5966. PMID 25608926 DOI: 10.1038/Ncomms6966  0.32
2015 Roberts AM, Ware JS, Herman DS, Schafer S, Baksi J, Bick AG, Buchan RJ, Walsh R, John S, Wilkinson S, Mazzarotto F, Felkin LE, Gong S, MacArthur JA, Cunningham F, ... ... Altshuler DM, et al. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Science Translational Medicine. 7: 270ra6. PMID 25589632 DOI: 10.1126/Scitranslmed.3010134  0.4
2015 Burns SM, Vetere A, Walpita D, Dan?ík V, Khodier C, Perez J, Clemons PA, Wagner BK, Altshuler D. High-throughput luminescent reporter of insulin secretion for discovering regulators of pancreatic Beta-cell function. Cell Metabolism. 21: 126-37. PMID 25565210 DOI: 10.1016/J.Cmet.2014.12.010  0.88
2015 Auton A, Abecasis GR, Altshuler DM, Durbin RM, Bentley DR, Chakravarti A, Clark AG, Donnelly P, Eichler EE, Flicek P, Gabriel SB, Gibbs RA, Green ED, Hurles ME, Knoppers BM, et al. A global reference for human genetic variation Nature. 526: 68-74. DOI: 10.1038/nature15393  0.4
2014 Delaneau O, Marchini J. Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel. Nature Communications. 5: 3934. PMID 25653097 DOI: 10.1038/ncomms4934  0.4
2014 Lim ET, Liu YP, Chan Y, Tiinamaija T, Käräjämäki A, Madsen E, Altshuler DM, Raychaudhuri S, Groop L, Flannick J, Hirschhorn JN, Katsanis N, Daly MJ. A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. American Journal of Human Genetics. 95: 509-20. PMID 25439097 DOI: 10.1016/J.Ajhg.2014.09.015  0.4
2014 Jaiswal S, Fontanillas P, Flannick J, Manning A, Grauman PV, Mar BG, Lindsley RC, Mermel CH, Burtt N, Chavez A, Higgins JM, Moltchanov V, Kuo FC, Kluk MJ, Henderson B, ... ... Altshuler D, et al. Age-related clonal hematopoiesis associated with adverse outcomes. The New England Journal of Medicine. 371: 2488-98. PMID 25426837 DOI: 10.1056/Nejmoa1408617  0.4
2014 Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB, Rosen ED, Altshuler D. Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. Proceedings of the National Academy of Sciences of the United States of America. 111: 13127-32. PMID 25157153 DOI: 10.1073/Pnas.1410428111  0.88
2014 Lim ET, Würtz P, Havulinna AS, Palta P, Tukiainen T, Rehnström K, Esko T, Mägi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, ... ... Altshuler DM, et al. Distribution and medical impact of loss-of-function variants in the Finnish founder population. Plos Genetics. 10: e1004494. PMID 25078778 DOI: 10.1371/Journal.Pgen.1004494  0.4
2014 Du M, Auer PL, Jiao S, Haessler J, Altshuler D, Boerwinkle E, Carlson CS, Carty CL, Chen YD, Curtis K, Franceschini N, Hsu L, Jackson R, Lange LA, Lettre G, et al. Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans. Human Molecular Genetics. 23: 6607-15. PMID 25027330 DOI: 10.1093/Hmg/Ddu361  0.4
2014 Schrader KA, Stratton KL, Murali R, Laitman Y, Cavallone L, Offit L, Wen YH, Thomas T, Shah S, Rau-Murthy R, Manschreck C, Salo-Mullen E, Otegbeye E, Corines M, Zhang L, ... ... Altshuler D, et al. Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. PMID 24982446 DOI: 10.1200/JCO.2013.50.0272  0.4
2014 Estrada K, Aukrust I, Bjørkhaug L, Burtt NP, Mercader JM, García-Ortiz H, Huerta-Chagoya A, Moreno-Macías H, Walford G, Flannick J, Williams AL, Gómez-Vázquez MJ, Fernandez-Lopez JC, Martínez-Hernández A, ... ... Altshuler D, et al. Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. Jama. 311: 2305-14. PMID 24915262 DOI: 10.1001/Jama.2014.6511  0.88
2014 Wang SR, Agarwala V, Flannick J, Chiang CW, Altshuler D, Hirschhorn JN. Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland. American Journal of Human Genetics. 94: 710-20. PMID 24768551 DOI: 10.1016/J.Ajhg.2014.03.019  0.4
2014 Mazaris P, Hong X, Altshuler D, Schultz L, Poisson LM, Jain R, Mikkelsen T, Rosenblum M, Kalkanis S. Key determinants of short-term and long-term glioblastoma survival: a 14-year retrospective study of patients from the Hermelin Brain Tumor Center at Henry Ford Hospital. Clinical Neurology and Neurosurgery. 120: 103-12. PMID 24731587 DOI: 10.1016/J.Clineuro.2014.03.001  0.88
2014 Williams AL, Jacobs SB, Moreno-Macías H, Huerta-Chagoya A, Churchhouse C, Márquez-Luna C, García-Ortíz H, Gómez-Vázquez MJ, Burtt NP, Aguilar-Salinas CA, González-Villalpando C, Florez JC, Orozco L, Haiman CA, ... ... Altshuler D, et al. Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico. Nature. 506: 97-101. PMID 24390345 DOI: 10.1038/Nature12828  0.88
2014 Ito K, Bick AG, Flannick J, Friedman DJ, Genovese G, Parfenov MG, Depalma SR, Gupta N, Gabriel SB, Taylor HA, Fox ER, Newton-Cheh C, Kathiresan S, Hirschhorn JN, Altshuler DM, et al. Increased burden of cardiovascular disease in carriers of APOL1 genetic variants. Circulation Research. 114: 845-50. PMID 24379297 DOI: 10.1161/Circresaha.114.302347  0.4
2014 Nagai S, Yoshida A, Kohno K, Altshuler D, Nakamura M, Brown KA, Abouljoud MS, Moonka D. Peritransplant absolute lymphocyte count as a predictive factor for advanced recurrence of hepatitis C after liver transplantation. Hepatology (Baltimore, Md.). 59: 35-45. PMID 23728831 DOI: 10.1002/hep.26536  0.4
2013 Van der Auwera GA, Carneiro MO, Hartl C, Poplin R, Del Angel G, Levy-Moonshine A, Jordan T, Shakir K, Roazen D, Thibault J, Banks E, Garimella KV, Altshuler D, Gabriel S, DePristo MA. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Current Protocols in Bioinformatics / Editoral Board, Andreas D. Baxevanis ... [Et Al.]. 11: 11.10.1-11.10.33. PMID 25431634 DOI: 10.1002/0471250953.Bi1110S43  0.88
2013 Agarwala V, Flannick J, Sunyaev S, Altshuler D. Evaluating empirical bounds on complex disease genetic architecture. Nature Genetics. 45: 1418-27. PMID 24141362 DOI: 10.1038/Ng.2804  0.4
2013 Flannick J, Beer NL, Bick AG, Agarwala V, Molnes J, Gupta N, Burtt NP, Florez JC, Meigs JB, Taylor H, Lyssenko V, Irgens H, Fox E, Burslem F, Johansson S, ... ... Altshuler D, et al. Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nature Genetics. 45: 1380-5. PMID 24097065 DOI: 10.1038/Ng.2794  0.4
2013 Stitziel NO, Fouchier SW, Sjouke B, Peloso GM, Moscoso AM, Auer PL, Goel A, Gigante B, Barnes TA, Melander O, Orho-Melander M, Duga S, Sivapalaratnam S, Nikpay M, Martinelli N, ... ... Altshuler D, et al. Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. Arteriosclerosis, Thrombosis, and Vascular Biology. 33: 2909-14. PMID 24072694 DOI: 10.1161/Atvbaha.113.302426  0.4
2013 Shah S, Schrader KA, Waanders E, Timms AE, Vijai J, Miething C, Wechsler J, Yang J, Hayes J, Klein RJ, Zhang J, Wei L, Wu G, Rusch M, Nagahawatte P, ... ... Altshuler D, et al. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nature Genetics. 45: 1226-31. PMID 24013638 DOI: 10.1038/Ng.2754  0.4
2013 Walford GA, Davis J, Warner AS, Ackerman RJ, Billings LK, Chamarthi B, Fanelli RR, Hernandez AM, Huang C, Khan SQ, Littleton KR, Lo J, McCarthy RM, Rhee EP, Deik A, ... ... Altshuler D, et al. Branched chain and aromatic amino acids change acutely following two medical therapies for type 2 diabetes mellitus. Metabolism: Clinical and Experimental. 62: 1772-8. PMID 23953891 DOI: 10.1016/J.Metabol.2013.07.003  0.4
2013 Altshuler D. Global alliance to create standards for sharing genomic data: Group supports simplifying system for searches, but privacy a concern American Journal of Medical Genetics, Part A. 161: xi. PMID 23946206 DOI: 10.1002/ajmg.a.36168  0.4
2013 Plenge RM, Scolnick EM, Altshuler D. Validating therapeutic targets through human genetics. Nature Reviews. Drug Discovery. 12: 581-94. PMID 23868113 DOI: 10.1038/nrd4051  0.4
2013 Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, ... ... Altshuler DM, et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 77: 235-42. PMID 23352160 DOI: 10.1016/J.Neuron.2012.12.029  0.4
2013 Deloukas P, Kanoni S, Willenborg C, Farrall M, Assimes TL, Thompson JR, Ingelsson E, Saleheen D, Erdmann J, Goldstein BA, Stirrups K, König IR, Cazier JB, Johansson A, ... ... Altshuler D, et al. Large-scale association analysis identifies new risk loci for coronary artery disease. Nature Genetics. 45: 25-33. PMID 23202125 DOI: 10.1038/Ng.2480  0.4
2013 Fu W, O'Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, Gabriel S, Rieder MJ, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ, Akey JM. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature. 493: 216-20. PMID 23201682 DOI: 10.1038/Nature11690  0.88
2012 Zaitlen N, Lindström S, Pasaniuc B, Cornelis M, Genovese G, Pollack S, Barton A, Bickeböller H, Bowden DW, Eyre S, Freedman BI, Friedman DJ, Field JK, Groop L, Haugen A, ... ... Altshuler D, et al. Informed conditioning on clinical covariates increases power in case-control association studies. Plos Genetics. 8: e1003032. PMID 23144628 DOI: 10.1371/Journal.Pgen.1003032  0.4
2012 Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. An integrated map of genetic variation from 1,092 human genomes. Nature. 491: 56-65. PMID 23128226 DOI: 10.1038/Nature11632  0.88
2012 Bick AG, Flannick J, Ito K, Cheng S, Vasan RS, Parfenov MG, Herman DS, DePalma SR, Gupta N, Gabriel SB, Funke BH, Rehm HL, Benjamin EJ, Aragam J, Taylor HA, ... ... Altshuler DM, et al. Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. American Journal of Human Genetics. 91: 513-9. PMID 22958901 DOI: 10.1016/J.Ajhg.2012.07.017  0.4
2012 Pollin TI, Isakova T, Jablonski KA, de Bakker PI, Taylor A, McAteer J, Pan Q, Horton ES, Delahanty LM, Altshuler D, Shuldiner AR, Goldberg RB, Florez JC, Franks PW. Genetic modulation of lipid profiles following lifestyle modification or metformin treatment: the Diabetes Prevention Program. Plos Genetics. 8: e1002895. PMID 22951888 DOI: 10.1371/Journal.Pgen.1002895  0.4
2012 Lucas G, Lluís-Ganella C, Subirana I, Musameh MD, Gonzalez JR, Nelson CP, Sentí M, Schwartz SM, Siscovick D, O'Donnell CJ, Melander O, Salomaa V, Purcell S, ... Altshuler D, et al. Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction. Plos One. 7: e41730. PMID 22876292 DOI: 10.1371/journal.pone.0041730  0.4
2012 Voight BF, Kang HM, Ding J, Palmer CD, Sidore C, Chines PS, Burtt NP, Fuchsberger C, Li Y, Erdmann J, Frayling TM, Heid IM, Jackson AU, Johnson T, Kilpeläinen TO, ... ... Altshuler D, et al. The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. Plos Genetics. 8: e1002793. PMID 22876189 DOI: 10.1371/Journal.Pgen.1002793  0.4
2012 Flannick J, Korn JM, Fontanillas P, Grant GB, Banks E, Depristo MA, Altshuler D. Efficiency and power as a function of sequence coverage, SNP array density, and imputation. Plos Computational Biology. 8: e1002604. PMID 22807667 DOI: 10.1371/Journal.Pcbi.1002604  0.4
2012 Henrickson S, Altshuler D. Risk and return for the clinician-investigator. Science Translational Medicine. 4: 135cm6. PMID 22623733 DOI: 10.1126/scitranslmed.3004110  0.4
2012 Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, ... ... Altshuler D, et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (New York, N.Y.). 337: 64-9. PMID 22604720 DOI: 10.1126/Science.1219240  0.88
2012 Zaitlen N, Pasaniuc B, Patterson N, Pollack S, Voight B, Groop L, Altshuler D, Henderson BE, Kolonel LN, Le Marchand L, Waters K, Haiman CA, Stranger BE, Dermitzakis ET, Kraft P, et al. Analysis of case-control association studies with known risk variants. Bioinformatics (Oxford, England). 28: 1729-37. PMID 22556366 DOI: 10.1093/Bioinformatics/Bts259  0.4
2012 Cheng CY, Reich D, Haiman CA, Tandon A, Patterson N, Selvin E, Elizabeth S, Akylbekova EL, Brancati FL, Coresh J, Boerwinkle E, Altshuler D, Taylor HA, Henderson BE, Wilson JG, et al. African ancestry and its correlation to type 2 diabetes in African Americans: a genetic admixture analysis in three U.S. population cohorts. Plos One. 7: e32840. PMID 22438884 DOI: 10.1371/Journal.Pone.0032840  0.4
2012 Altshuler D. 2011 Curt Stern Award address. American Journal of Human Genetics. 90: 407-9. PMID 22405086 DOI: 10.1016/j.ajhg.2012.02.017  0.4
2011 O'Donnell CJ, Kavousi M, Smith AV, Kardia SL, Feitosa MF, Hwang SJ, Sun YV, Province MA, Aspelund T, Dehghan A, Hoffmann U, Bielak LF, Zhang Q, Eiriksdottir G, van Duijn CM, ... ... Altshuler D, et al. Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. Circulation. 124: 2855-64. PMID 22144573 DOI: 10.1161/Circulationaha.110.974899  0.4
2011 Rivas MA, Beaudoin M, Gardet A, Stevens C, Sharma Y, Zhang CK, Boucher G, Ripke S, Ellinghaus D, Burtt N, Fennell T, Kirby A, Latiano A, Goyette P, Green T, ... ... Altshuler D, et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nature Genetics. 43: 1066-73. PMID 21983784 DOI: 10.1038/Ng.952  0.4
2011 Zhu H, Shyh-Chang N, Segrè AV, Shinoda G, Shah SP, Einhorn WS, Takeuchi A, Engreitz JM, Hagan JP, Kharas MG, Urbach A, Thornton JE, Triboulet R, Gregory RI, ... ... Altshuler D, et al. The Lin28/let-7 axis regulates glucose metabolism. Cell. 147: 81-94. PMID 21962509 DOI: 10.1016/j.cell.2011.08.033  0.4
2011 Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, ... ... Altshuler D, et al. The functional spectrum of low-frequency coding variation. Genome Biology. 12: R84. PMID 21917140 DOI: 10.1186/Gb-2011-12-9-R84  0.4
2011 Shea J, Agarwala V, Philippakis AA, Maguire J, Banks E, Depristo M, Thomson B, Guiducci C, Onofrio RC, Kathiresan S, Gabriel S, Burtt NP, Daly MJ, Groop L, Altshuler D, et al. Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction. Nature Genetics. 43: 801-5. PMID 21775993 DOI: 10.1038/Ng.871  0.4
2011 Ardissino D, Berzuini C, Merlini PA, Mannuccio Mannucci P, Surti A, Burtt N, Voight B, Tubaro M, Peyvandi F, Spreafico M, Celli P, Lina D, Notarangelo MF, Ferrario M, Fetiveau R, ... ... Altshuler D, et al. Influence of 9p21.3 genetic variants on clinical and angiographic outcomes in early-onset myocardial infarction. Journal of the American College of Cardiology. 58: 426-34. PMID 21757122 DOI: 10.1016/J.Jacc.2010.11.075  0.4
2011 Gusev A, Kenny EE, Lowe JK, Salit J, Saxena R, Kathiresan S, Altshuler DM, Friedman JM, Breslow JL, Pe'er I. DASH: a method for identical-by-descent haplotype mapping uncovers association with recent variation. American Journal of Human Genetics. 88: 706-17. PMID 21620352 DOI: 10.1016/J.Ajhg.2011.04.023  0.4
2011 Wild PS, Zeller T, Schillert A, Szymczak S, Sinning CR, Deiseroth A, Schnabel RB, Lubos E, Keller T, Eleftheriadis MS, Bickel C, Rupprecht HJ, Wilde S, Rossmann H, Diemert P, ... ... Altshuler D, et al. A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease. Circulation. Cardiovascular Genetics. 4: 403-12. PMID 21606135 DOI: 10.1161/Circgenetics.110.958728  0.4
2011 Pollin TI, Jablonski KA, McAteer JB, Saxena R, Kathiresan S, Kahn SE, Goldberg RB, Altshuler D, Florez JC. Triglyceride response to an intensive lifestyle intervention is enhanced in carriers of the GCKR Pro446Leu polymorphism. The Journal of Clinical Endocrinology and Metabolism. 96: E1142-7. PMID 21525158 DOI: 10.1210/Jc.2010-2324  0.4
2011 DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, ... ... Altshuler D, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nature Genetics. 43: 491-8. PMID 21478889 DOI: 10.1038/Ng.806  0.4
2011 Neale BM, Rivas MA, Voight BF, Altshuler D, Devlin B, Orho-Melander M, Kathiresan S, Purcell SM, Roeder K, Daly MJ. Testing for an unusual distribution of rare variants. Plos Genetics. 7: e1001322. PMID 21408211 DOI: 10.1371/Journal.Pgen.1001322  0.4
2011 Schunkert H, König IR, Kathiresan S, Reilly MP, Assimes TL, Holm H, Preuss M, Stewart AF, Barbalic M, Gieger C, Absher D, Aherrahrou Z, Allayee H, Altshuler D, Anand SS, et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nature Genetics. 43: 333-8. PMID 21378990 DOI: 10.1038/Ng.784  0.4
2011 Hivert MF, Jablonski KA, Perreault L, Saxena R, McAteer JB, Franks PW, Hamman RF, Kahn SE, Haffner S, Meigs JB, Altshuler D, Knowler WC, Florez JC. Updated genetic score based on 34 confirmed type 2 diabetes Loci is associated with diabetes incidence and regression to normoglycemia in the diabetes prevention program. Diabetes. 60: 1340-8. PMID 21378175 DOI: 10.2337/Db10-1119  0.4
2011 Guey LT, Kravic J, Melander O, Burtt NP, Laramie JM, Lyssenko V, Jonsson A, Lindholm E, Tuomi T, Isomaa B, Nilsson P, Almgren P, Kathiresan S, Groop L, Seymour AB, ... Altshuler D, et al. Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants. Genetic Epidemiology. 35: 236-46. PMID 21308769 DOI: 10.1002/Gepi.20572  0.4
2011 De Caterina R, Talmud PJ, Merlini PA, Foco L, Pastorino R, Altshuler D, Mauri F, Peyvandi F, Lina D, Kathiresan S, Bernardinelli L, Ardissino D. Strong association of the APOA5-1131T>C gene variant and early-onset acute myocardial infarction. Atherosclerosis. 214: 397-403. PMID 21130994 DOI: 10.1016/j.atherosclerosis.2010.11.011  0.4
2011 Kenny EE, Kim M, Gusev A, Lowe JK, Salit J, Smith JG, Kovvali S, Kang HM, Newton-Cheh C, Daly MJ, Stoffel M, Altshuler DM, Friedman JM, Eskin E, Breslow JL, et al. Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population. Human Molecular Genetics. 20: 827-39. PMID 21118897 DOI: 10.1093/Hmg/Ddq510  0.4
2011 Jafar-Mohammadi B, Groves CJ, Gjesing AP, Herrera BM, Winckler W, Stringham HM, Morris AP, Lauritzen T, Doney AS, Morris AD, Weedon MN, Swift AJ, Kuusisto J, Laakso M, Altshuler D, et al. A role for coding functional variants in HNF4A in type 2 diabetes susceptibility. Diabetologia. 54: 111-9. PMID 20878384 DOI: 10.1007/S00125-010-1916-4  0.4
2011 Altshuler D. The Inherited Basis of Common Diseases Goldman's Cecil Medicine: Twenty Fourth Edition. 1: 195-198. DOI: 10.1016/B978-1-4377-1604-7.00041-5  0.4
2011 Soranzo N, Sanna S, Wheeler E, Gieger C, Radke D, Dupuis J, Bouatia-Naji N, Langenberg C, Prokopenko I, Stolerman E, Sandhu MS, Heeney MM, Devaney JM, Reilly MP, Ricketts SL, ... ... Altshuler D, et al. Common variants at 10 genomic loci influence hemoglobin A1C levels via glycemic and nonglycemic pathways (Diabetes (2010) 59, (3229-3239)) Diabetes. 60: 1051.  0.4
2010 Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. A map of human genome variation from population-scale sequencing. Nature. 467: 1061-73. PMID 20981092 DOI: 10.1038/Nature09534  0.88
2010 Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, Barry AJ, Fennell T, Banks E, Ambrogio L, Cibulskis K, Kernytsky A, ... ... Altshuler D, et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. The New England Journal of Medicine. 363: 2220-7. PMID 20942659 DOI: 10.1056/NEJMoa1002926  0.4
2010 Waters KM, Stram DO, Hassanein MT, Le Marchand L, Wilkens LR, Maskarinec G, Monroe KR, Kolonel LN, Altshuler D, Henderson BE, Haiman CA. Consistent association of type 2 diabetes risk variants found in europeans in diverse racial and ethnic groups. Plos Genetics. 6. PMID 20865176 DOI: 10.1371/Journal.Pgen.1001078  0.4
2010 Soranzo N, Sanna S, Wheeler E, Gieger C, Radke D, Dupuis J, Bouatia-Naji N, Langenberg C, Prokopenko I, Stolerman E, Sandhu MS, Heeney MM, Devaney JM, Reilly MP, Ricketts SL, ... ... Altshuler D, et al. Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes. 59: 3229-39. PMID 20858683 DOI: 10.2337/Db10-0502  0.4
2010 Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, Sinilnikova OM, Healey S, Morrison J, Kartsonaki C, Lesnick T, Ghoussaini M, Barrowdale D, Peock S, Cook M, ... ... Altshuler D, et al. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nature Genetics. 42: 885-92. PMID 20852631 DOI: 10.1038/Ng.669  0.4
2010 Raychaudhuri S, Korn JM, McCarroll SA, Altshuler D, Sklar P, Purcell S, Daly MJ. Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. Plos Genetics. 6: e1001097. PMID 20838587 DOI: 10.1371/Journal.Pgen.1001097  0.4
2010 Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, et al. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nature Genetics. 42: 851-8. PMID 20818383 DOI: 10.1038/ng.659  0.4
2010 Segrè AV, Groop L, Mootha VK, Daly MJ, Altshuler D. Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. Plos Genetics. 6. PMID 20714348 DOI: 10.1371/journal.pgen.1001058  0.4
2010 Jablonski KA, McAteer JB, de Bakker PI, Franks PW, Pollin TI, Hanson RL, Saxena R, Fowler S, Shuldiner AR, Knowler WC, Altshuler D, Florez JC. Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program. Diabetes. 59: 2672-81. PMID 20682687 DOI: 10.2337/Db10-0543  0.4
2010 McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research. 20: 1297-303. PMID 20644199 DOI: 10.1101/gr.107524.110  0.4
2010 Lindström S, Ma J, Altshuler D, Giovannucci E, Riboli E, Albanes D, Allen NE, Berndt SI, Boeing H, Bueno-de-Mesquita HB, Chanock SJ, Dunning AM, Feigelson HS, Gaziano JM, Haiman CA, et al. A large study of androgen receptor germline variants and their relation to sex hormone levels and prostate cancer risk. Results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium. The Journal of Clinical Endocrinology and Metabolism. 95: E121-7. PMID 20534771 DOI: 10.1210/Mend.24.7.9997  0.4
2010 Furberg H, Kim Y, Dackor J, Boerwinkle E, Franceschini N, Ardissino D, Bernardinelli L, Mannucci PM, Mauri F, Merlini PA, Absher D, Assimes TL, Fortmann SP, Iribarren C, Knowles JW, ... ... Altshuler D, et al. Genome-wide meta-analyses identify multiple loci associated with smoking behavior Nature Genetics. 42: 441-447. PMID 20418890 DOI: 10.1038/Ng.571  0.4
2010 Reiling E, Jafar-Mohammadi B, van 't Riet E, Weedon MN, van Vliet-Ostaptchouk JV, Hansen T, Saxena R, van Haeften TW, Arp PA, Das S, Nijpels G, Groenewoud MJ, van Hove EC, Uitterlinden AG, Smit JW, ... ... Altshuler DM, et al. Genetic association analysis of LARS2 with type 2 diabetes. Diabetologia. 53: 103-10. PMID 19847392 DOI: 10.1007/s00125-009-1557-7  0.4
2010 Bonnen PE, Lowe JK, Altshuler DM, Breslow JL, Stoffel M, Friedman JM, Pe'er I. European admixture on the Micronesian island of Kosrae: lessons from complete genetic information. European Journal of Human Genetics : Ejhg. 18: 309-16. PMID 19844264 DOI: 10.1038/Ejhg.2009.180  0.88
2010 Choy E, Altshuler D. The HapMap Project and low-penetrance cancer susceptibility alleles Principles of Clinical Cancer Genetics: a Handbook From the Massachusetts General Hospital. 195-204. DOI: 10.1007/978-0-387-93846-2_14  0.88
2009 McCarroll SA, Bradner JE, Turpeinen H, Volin L, Martin PJ, Chilewski SD, Antin JH, Lee SJ, Ruutu T, Storer B, Warren EH, Zhang B, Zhao LP, Ginsburg D, Soiffer RJ, ... ... Altshuler D, et al. Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease. Nature Genetics. 41: 1341-4. PMID 19935662 DOI: 10.1038/ng.490  0.4
2009 Raychaudhuri S, Thomson BP, Remmers EF, Eyre S, Hinks A, Guiducci C, Catanese JJ, Xie G, Stahl EA, Chen R, Alfredsson L, Amos CI, Ardlie KG, Barton A, ... ... Altshuler D, et al. Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. Nature Genetics. 41: 1313-8. PMID 19898481 DOI: 10.1038/Ng.479  0.4
2009 Soranzo N, Spector TD, Mangino M, Kühnel B, Rendon A, Teumer A, Willenborg C, Wright B, Chen L, Li M, Salo P, Voight BF, Burns P, Laskowski RA, Xue Y, ... ... Altshuler D, et al. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nature Genetics. 41: 1182-90. PMID 19820697 DOI: 10.1038/Ng.467  0.4
2009 Weiss LA, Arking DE, Daly MJ, Chakravarti A, Brune CW, West K, O'Connor A, Hilton G, Tomlinson RL, West AB, Cook EH, Green T, Chang SC, Gabriel S, Gates C, ... ... Altshuler D, et al. A genome-wide linkage and association scan reveals novel loci for autism Nature. 461: 802-808. PMID 19812673 DOI: 10.1038/Nature08490  0.88
2009 Kenny EE, Gusev A, Riegel K, Lütjohann D, Lowe JK, Salit J, Maller JB, Stoffel M, Daly MJ, Altshuler DM, Friedman JM, Breslow JL, Pe'er I, Sehayek E. 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. 106: 13886-91. PMID 19667188 DOI: 10.1073/Pnas.0907336106  0.4
2009 Salanti G, Southam L, Altshuler D, Ardlie K, Barroso I, Boehnke M, Cornelis MC, Frayling TM, Grallert H, Grarup N, Groop L, Hansen T, Hattersley AT, Hu FB, Hveem K, et al. Underlying genetic models of inheritance in established type 2 diabetes associations. American Journal of Epidemiology. 170: 537-45. PMID 19602701 DOI: 10.1093/Aje/Kwp145  0.4
2009 Prokunina-Olsson L, Welch C, Hansson O, Adhikari N, Scott LJ, Usher N, Tong M, Sprau A, Swift A, Bonnycastle LL, Erdos MR, He Z, Saxena R, Harmon B, Kotova O, ... ... Altshuler D, et al. Tissue-specific alternative splicing of TCF7L2. Human Molecular Genetics. 18: 3795-804. PMID 19602480 DOI: 10.1093/Hmg/Ddp321  0.4
2009 Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck Mde L, Artunduaga MA, et al. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nature Genetics. 41: 931-5. PMID 19597493 DOI: 10.1038/Ng.415  0.4
2009 Raychaudhuri S, Plenge RM, Rossin EJ, Ng AC, Purcell SM, Sklar P, Scolnick EM, Xavier RJ, Altshuler D, Daly MJ. Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. Plos Genetics. 5: e1000534. PMID 19557189 DOI: 10.1371/Journal.Pgen.1000534  0.4
2009 Smith JG, Lowe JK, Kovvali S, Maller JB, Salit J, Daly MJ, Stoffel M, Altshuler DM, Friedman JM, Breslow JL, Newton-Cheh C. Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae. Heart Rhythm : the Official Journal of the Heart Rhythm Society. 6: 634-41. PMID 19389651 DOI: 10.1016/J.Hrthm.2009.02.022  0.4
2009 Choquet H, Cavalcanti-Proença C, Lecoeur C, Dina C, Cauchi S, Vaxillaire M, Hadjadj S, Horber F, Potoczna N, Charpentier G, Ruiz J, Hercberg S, Maimaitiming S, Roussel R, Boenhnke M, ... ... Altshuler D, et al. 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. 18: 2495-501. PMID 19377085 DOI: 10.1093/Hmg/Ddp169  0.4
2009 Erdmann J, Grosshennig A, Braund PS, König IR, Hengstenberg C, Hall AS, Linsel-Nitschke P, Kathiresan S, Wright B, Trégouët DA, Cambien F, Bruse P, Aherrahrou Z, Wagner AK, Stark K, ... ... Altshuler D, et al. New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nature Genetics. 41: 280-2. PMID 19198612 DOI: 10.1038/Ng.307  0.4
2009 Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, Mannucci PM, Anand S, Engert JC, Samani NJ, Schunkert H, Erdmann J, Reilly MP, Rader DJ, Morgan T, ... ... Altshuler D, ... ... Altshuler D, et al. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nature Genetics. 41: 334-41. PMID 19198609 DOI: 10.1038/Ng.327  0.4
2009 Lowe JK, Maller JB, Pe'er I, Neale BM, Salit J, Kenny EE, Shea JL, Burkhardt R, Smith JG, Ji W, Noel M, Foo JN, Blundell ML, Skilling V, Garcia L, ... ... Altshuler DM, et al. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. Plos Genetics. 5: e1000365. PMID 19197348 DOI: 10.1371/Journal.Pgen.1000365  0.4
2009 Lyssenko V, Nagorny CL, Erdos MR, Wierup N, Jonsson A, Spégel P, Bugliani M, Saxena R, Fex M, Pulizzi N, Isomaa B, Tuomi T, Nilsson P, Kuusisto J, Tuomilehto J, ... ... Altshuler D, et al. Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion. Nature Genetics. 41: 82-8. PMID 19060908 DOI: 10.1038/Ng.288  0.4
2009 Kathiresan S, Willer CJ, Peloso GM, Demissie S, Musunuru K, Schadt EE, Kaplan L, Bennett D, Li Y, Tanaka T, Voight BF, Bonnycastle LL, Jackson AU, Crawford G, Surti A, ... ... Altshuler D, et al. Common variants at 30 loci contribute to polygenic dyslipidemia. Nature Genetics. 41: 56-65. PMID 19060906 DOI: 10.1038/Ng.291  0.4
2009 Gusev A, Lowe JK, Stoffel M, Daly MJ, Altshuler D, Breslow JL, Friedman JM, Pe'er I. Whole population, genome-wide mapping of hidden relatedness. Genome Research. 19: 318-26. PMID 18971310 DOI: 10.1101/Gr.081398.108  0.88
2008 McCarroll SA, Huett A, Kuballa P, Chilewski SD, Landry A, Goyette P, Zody MC, Hall JL, Brant SR, Cho JH, Duerr RH, Silverberg MS, Taylor KD, Rioux JD, Altshuler D, et al. Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nature Genetics. 40: 1107-12. PMID 19165925 DOI: 10.1038/ng.215  0.4
2008 Graham RR, Cotsapas C, Davies L, Hackett R, Lessard CJ, Leon JM, Burtt NP, Guiducci C, Parkin M, Gates C, Plenge RM, Behrens TW, Wither JE, Rioux JD, Fortin PR, ... ... Altshuler D, et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nature Genetics. 40: 1059-61. PMID 19165918 DOI: 10.1038/Ng.200  0.4
2008 Choy E, Yelensky R, Bonakdar S, Plenge RM, Saxena R, De Jager PL, Shaw SY, Wolfish CS, Slavik JM, Cotsapas C, Rivas M, Dermitzakis ET, Cahir-McFarland E, Kieff E, Hafler D, ... ... Altshuler D, et al. Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. Plos Genetics. 4: e1000287. PMID 19043577 DOI: 10.1371/Journal.Pgen.1000287  0.4
2008 Lyssenko V, Jonsson A, Almgren P, Pulizzi N, Isomaa B, Tuomi T, Berglund G, Altshuler D, Nilsson P, Groop L. Clinical risk factors, DNA variants, and the development of type 2 diabetes. The New England Journal of Medicine. 359: 2220-32. PMID 19020324 DOI: 10.1056/NEJMoa0801869  0.4
2008 Altshuler D, Daly MJ, Lander ES. Genetic mapping in human disease. Science (New York, N.Y.). 322: 881-8. PMID 18988837 DOI: 10.1126/science.1156409  0.4
2008 Burkhardt R, Kenny EE, Lowe JK, Birkeland A, Josowitz R, Noel M, Salit J, Maller JB, Pe'er I, Daly MJ, Altshuler D, Stoffel M, Friedman JM, Breslow JL. Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. Arteriosclerosis, Thrombosis, and Vascular Biology. 28: 2078-84. PMID 18802019 DOI: 10.1161/Atvbaha.108.172288  0.4
2008 Raychaudhuri S, Remmers EF, Lee AT, Hackett R, Guiducci C, Burtt NP, Gianniny L, Korman BD, Padyukov L, Kurreeman FA, Chang M, Catanese JJ, Ding B, Wong S, van der Helm-van Mil AH, ... ... Altshuler D, et al. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nature Genetics. 40: 1216-23. PMID 18794853 DOI: 10.1038/Ng.233  0.4
2008 Korn JM, Kuruvilla FG, McCarroll SA, Wysoker A, Nemesh J, Cawley S, Hubbell E, Veitch J, Collins PJ, Darvishi K, Lee C, Nizzari MM, Gabriel SB, Purcell S, Daly MJ, ... Altshuler D, et al. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nature Genetics. 40: 1253-60. PMID 18776909 DOI: 10.1038/Ng.237  0.4
2008 McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, de Bakker PI, Maller JB, Kirby A, Elliott AL, Parkin M, Hubbell E, Webster T, Mei R, ... ... Altshuler D, et al. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nature Genetics. 40: 1166-74. PMID 18776908 DOI: 10.1038/Ng.238  0.4
2008 Orho-Melander M, Melander O, Guiducci C, Perez-Martinez P, Corella D, Roos C, Tewhey R, Rieder MJ, Hall J, Abecasis G, Tai ES, Welch C, Arnett DK, Lyssenko V, Lindholm E, ... ... Altshuler D, et al. Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes. 57: 3112-21. PMID 18678614 DOI: 10.2337/Db08-0516  0.4
2008 Peters AL, Plenge RM, Graham RR, Altshuler DM, Moser KL, Gaffney PM, Bishop GA. A novel polymorphism of the human CD40 receptor with enhanced function. Blood. 112: 1863-71. PMID 18591382 DOI: 10.1182/Blood-2008-02-138925  0.4
2008 Hunter DJ, Altshuler D, Rader DJ. From Darwin's finches to canaries in the coal mine--mining the genome for new biology. The New England Journal of Medicine. 358: 2760-3. PMID 18579810 DOI: 10.1056/Nejmp0804318  0.4
2008 Moore AF, Jablonski KA, McAteer JB, Saxena R, Pollin TI, Franks PW, Hanson RL, Shuldiner AR, Knowler WC, Altshuler D, Florez JC. Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program. Diabetes. 57: 2503-10. PMID 18544707 DOI: 10.2337/Db08-0284  0.4
2008 Chen WM, Erdos MR, Jackson AU, Saxena R, Sanna S, Silver KD, Timpson NJ, Hansen T, Orrù M, Grazia Piras M, Bonnycastle LL, Willer CJ, Lyssenko V, Shen H, Kuusisto J, ... ... Altshuler D, et al. Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. The Journal of Clinical Investigation. 118: 2620-8. PMID 18521185 DOI: 10.1172/Jci34566  0.4
2008 Kathiresan S, Melander O, Anevski D, Guiducci C, Burtt NP, Roos C, Hirschhorn JN, Berglund G, Hedblad B, Groop L, Altshuler DM, Newton-Cheh C, Orho-Melander M. Polymorphisms associated with cholesterol and risk of cardiovascular events. The New England Journal of Medicine. 358: 1240-9. PMID 18354102 DOI: 10.1056/Nejmoa0706728  0.4
2008 Pe'er I, Yelensky R, Altshuler D, Daly MJ. Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genetic Epidemiology. 32: 381-5. PMID 18348202 DOI: 10.1002/Gepi.20303  0.4
2008 Kathiresan S, Melander O, Guiducci C, Surti A, Burtt NP, Rieder MJ, Cooper GM, Roos C, Voight BF, Havulinna AS, Wahlstrand B, Hedner T, Corella D, Tai ES, Ordovas JM, ... ... Altshuler DM, et al. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nature Genetics. 40: 189-97. PMID 18193044 DOI: 10.1038/Ng.75  0.4
2008 Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, et al. Association between microdeletion and microduplication at 16p11.2 and autism. The New England Journal of Medicine. 358: 667-75. PMID 18184952 DOI: 10.1056/Nejmoa075974  0.4
2008 Florez JC, Jablonski KA, McAteer J, Sandhu MS, Wareham NJ, Barroso I, Franks PW, Altshuler D, Knowler WC. Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program. Diabetologia. 51: 451-7. PMID 18060660 DOI: 10.1007/S00125-007-0891-X  0.4
2008 Cunninghame Graham DS, Graham RR, Manku H, Wong AK, Whittaker JC, Gaffney PM, Moser KL, Rioux JD, Altshuler D, Behrens TW, Vyse TJ. Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. Nature Genetics. 40: 83-9. PMID 18059267 DOI: 10.1038/Ng.2007.47  0.4
2008 Cox DG, Bretsky P, Kraft P, Pharoah P, Albanes D, Altshuler D, Amiano P, Berglund G, Boeing H, Buring J, Burtt N, Calle EE, Canzian F, Chanock S, et al. Haplotypes of the estrogen receptor beta gene and breast cancer risk. International Journal of Cancer. Journal International Du Cancer. 122: 387-92. PMID 17935138 DOI: 10.1002/Ijc.23127  0.4
2008 Kathiresan S, Melander O, Guiducci C, Surti A, Burtt NP, Rieder MJ, Cooper GM, Roos C, Voight BF, Havulinna AS, Wahlstrand B, Hedner T, Corella D, Tai ES, Ordovas JM, ... ... Altshuler DM, et al. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans (Nature Genetics (2008) 40, (189-197)) Nature Genetics. 40: 1384. DOI: 10.1038/Ng1108-1384A  0.4
2007 Lee SA, Haiman CA, Burtt NP, Pooler LC, Cheng I, Kolonel LN, Pike MC, Altshuler D, Hirschhorn JN, Henderson BE, Stram DO. 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. 8: 72. PMID 18053149 DOI: 10.1186/1471-2350-8-72  0.4
2007 Setiawan VW, Schumacher FR, Haiman CA, Stram DO, Albanes D, Altshuler D, Berglund G, Buring J, Calle EE, Clavel-Chapelon F, Cox DG, Gaziano JM, Hankinson SE, Hayes RB, Henderson BE, et al. CYP17 genetic variation and risk of breast and prostate cancer from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. 16: 2237-46. PMID 18006912 DOI: 10.1158/1055-9965.Epi-07-0589  0.4
2007 Plenge RM, Cotsapas C, Davies L, Price AL, de Bakker PI, Maller J, Pe'er I, Burtt NP, Blumenstiel B, DeFelice M, Parkin M, Barry R, Winslow W, Healy C, Graham RR, ... ... Altshuler D, et al. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nature Genetics. 39: 1477-82. PMID 17982456 DOI: 10.1038/Ng.2007.27  0.4
2007 Chen YC, Kraft P, Bretsky P, Ketkar S, Hunter DJ, Albanes D, Altshuler D, Andriole G, Berg CD, Boeing H, Burtt N, Bueno-de-Mesquita B, Cann H, Canzian F, Chanock S, et al. Sequence variants of estrogen receptor beta and risk of prostate cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium. Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. 16: 1973-81. PMID 17932344 DOI: 10.1158/1055-9965.Epi-07-0431  0.4
2007 Franks PW, Jablonski KA, Delahanty L, Hanson RL, Kahn SE, Altshuler D, Knowler WC, Florez JC. The Pro12Ala variant at the peroxisome proliferator-activated receptor gamma gene and change in obesity-related traits in the Diabetes Prevention Program. Diabetologia. 50: 2451-60. PMID 17898990 DOI: 10.1007/S00125-007-0826-6  0.4
2007 Plenge RM, Seielstad M, Padyukov L, Lee AT, Remmers EF, Ding B, Liew A, Khalili H, Chandrasekaran A, Davies LR, Li W, Tan AK, Bonnard C, Ong RT, Thalamuthu A, ... ... Altshuler D, et al. TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. The New England Journal of Medicine. 357: 1199-209. PMID 17804836 DOI: 10.1056/NEJMoa073491  0.88
2007 Bell DW, Kim SH, Godwin AK, Schiripo TA, Harris PL, Haserlat SM, Wahrer DC, Haiman CA, Daly MB, Niendorf KB, Smith MR, Sgroi DC, Garber JE, Olopade OI, Le Marchand L, ... ... Altshuler D, et al. Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. International Journal of Cancer. Journal International Du Cancer. 121: 2661-7. PMID 17721994 DOI: 10.1002/Ijc.23026  0.4
2007 Altshuler D, Daly M. Guilt beyond a reasonable doubt. Nature Genetics. 39: 813-5. PMID 17597768 DOI: 10.1038/ng0707-813  0.4
2007 Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, Hirschhorn JN, Abecasis G, Altshuler D, Bailey-Wilson JE, Brooks LD, Cardon LR, Daly M, Donnelly P, et al. Replicating genotype-phenotype associations. Nature. 447: 655-60. PMID 17554299 DOI: 10.1038/447655A  0.4
2007 Parikh H, Carlsson E, Chutkow WA, Johansson LE, Storgaard H, Poulsen P, Saxena R, Ladd C, Schulze PC, Mazzini MJ, Jensen CB, Krook A, Björnholm M, Tornqvist H, Zierath JR, ... ... Altshuler D, et al. TXNIP regulates peripheral glucose metabolism in humans. Plos Medicine. 4: e158. PMID 17472435 DOI: 10.1371/journal.pmed.0040158  0.4
2007 Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, Roix JJ, Kathiresan S, Hirschhorn JN, Daly MJ, Hughes TE, Groop L, Altshuler D, Almgren P, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (New York, N.Y.). 316: 1331-6. PMID 17463246 DOI: 10.1126/Science.1142358  0.4
2007 Florez JC, Sjögren M, Agapakis CM, Burtt NP, Almgren P, Lindblad U, Berglund G, Tuomi T, Gaudet D, Daly MJ, Ardlie KG, Hirschhorn JN, Altshuler D, Groop L. Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes. Diabetologia. 50: 1209-17. PMID 17443311 DOI: 10.1007/S00125-007-0657-5  0.4
2007 Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, Baechler EC, Plenge RM, Koeuth T, Ortmann WA, Hom G, Bauer JW, Gillett C, Burtt N, Cunninghame Graham DS, Onofrio R, ... ... Altshuler D, et al. 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. 104: 6758-63. PMID 17412832 DOI: 10.1073/Pnas.0701266104  0.4
2007 Sekine H, Ferreira RC, Pan-Hammarström Q, Graham RR, Ziemba B, de Vries SS, Liu J, Hippen K, Koeuth T, Ortmann W, Iwahori A, Elliott MK, Offer S, Skon C, Du L, ... ... Altshuler D, et al. Role for Msh5 in the regulation of Ig class switch recombination. Proceedings of the National Academy of Sciences of the United States of America. 104: 7193-8. PMID 17409188 DOI: 10.1073/Pnas.0700815104  0.4
2007 Haiman CA, Patterson N, Freedman ML, Myers SR, Pike MC, Waliszewska A, Neubauer J, Tandon A, Schirmer C, McDonald GJ, Greenway SC, Stram DO, Le Marchand L, Kolonel LN, Frasco M, ... ... Altshuler D, et al. Multiple regions within 8q24 independently affect risk for prostate cancer. Nature Genetics. 39: 638-44. PMID 17401364 DOI: 10.1038/Ng2015  0.4
2007 Winckler W, Weedon MN, Graham RR, McCarroll SA, Purcell S, Almgren P, Tuomi T, Gaudet D, Boström KB, Walker M, Hitman G, Hattersley AT, McCarthy MI, Ardlie KG, Hirschhorn JN, ... ... Altshuler D, et al. Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes. 56: 685-93. PMID 17327436 DOI: 10.2337/Db06-0202  0.4
2007 Haiman CA, Dossus L, Setiawan VW, Stram DO, Dunning AM, Thomas G, Thun MJ, Albanes D, Altshuler D, Ardanaz E, Boeing H, Buring J, Burtt N, Calle EE, Chanock S, et al. Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women. Cancer Research. 67: 1893-7. PMID 17325027 DOI: 10.1158/0008-5472.Can-06-4123  0.4
2007 Florez JC, Jablonski KA, Kahn SE, Franks PW, Dabelea D, Hamman RF, Knowler WC, Nathan DM, Altshuler D. 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. 56: 531-6. PMID 17259403 DOI: 10.2337/Db06-0966  0.4
2007 Florez JC, Jablonski KA, Sun MW, Bayley N, Kahn SE, Shamoon H, Hamman RF, Knowler WC, Nathan DM, Altshuler D. 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. 92: 1502-9. PMID 17213274 DOI: 10.1210/Jc.2006-2275  0.4
2006 Setiawan VW, Cheng I, Stram DO, Giorgi E, Pike MC, Van Den Berg D, Pooler L, Burtt NP, Le Marchand L, Altshuler D, Hirschhorn J, Henderson BE, Haiman CA. A systematic assessment of common genetic variation in CYP11A and risk of breast cancer. Cancer Research. 66: 12019-25. PMID 17178901 DOI: 10.1158/0008-5472.Can-06-1101  0.4
2006 Florez JC, Saxena R, Winckler W, Burtt NP, Almgren P, Bengtsson Boström K, Tuomi T, Gaudet D, Ardlie KG, Daly MJ, Altshuler D, Hirschhorn JN, Groop L. The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people. Diabetes. 55: 3620-4. PMID 17130512 DOI: 10.2337/Db06-0867  0.4
2006 De Bakker PI, Graham RR, Altshuler D, Henderson BE, Haiman CA. Transferability of tag SNPs to capture common genetic variation in DNA repair genes across multiple populations. Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing. 478-86. PMID 17094262  0.4
2006 Lyon HN, Florez JC, Bersaglieri T, Saxena R, Winckler W, Almgren P, Lindblad U, Tuomi T, Gaudet D, Zhu X, Cooper R, Ardlie KG, Daly MJ, Altshuler D, Groop L, et al. Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity. Diabetes. 55: 3180-4. PMID 17065359 DOI: 10.2337/Db06-0407  0.4
2006 de Bakker PI, Burtt NP, Graham RR, Guiducci C, Yelensky R, Drake JA, Bersaglieri T, Penney KL, Butler J, Young S, Onofrio RC, Lyon HN, Stram DO, Haiman CA, Freedman ML, ... ... Altshuler D, et al. Transferability of tag SNPs in genetic association studies in multiple populations. Nature Genetics. 38: 1298-303. PMID 17057720 DOI: 10.1038/Ng1899  0.4
2006 Holmkvist J, Cervin C, Lyssenko V, Winckler W, Anevski D, Cilio C, Almgren P, Berglund G, Nilsson P, Tuomi T, Lindgren CM, Altshuler D, Groop L. Common variants in HNF-1 alpha and risk of type 2 diabetes. Diabetologia. 49: 2882-91. PMID 17033837 DOI: 10.1007/S00125-006-0450-X  0.32
2006 Saxena R, Gianniny L, Burtt NP, Lyssenko V, Giuducci C, Sjögren M, Florez JC, Almgren P, Isomaa B, Orho-Melander M, Lindblad U, Daly MJ, Tuomi T, Hirschhorn JN, Ardlie KG, ... ... Altshuler D, et al. Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals. Diabetes. 55: 2890-5. PMID 17003358 DOI: 10.2337/Db06-0381  0.4
2006 Freedman ML, Haiman CA, Patterson N, McDonald GJ, Tandon A, Waliszewska A, Penney K, Steen RG, Ardlie K, John EM, Oakley-Girvan I, Whittemore AS, Cooney KA, Ingles SA, Altshuler D, et al. 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. 103: 14068-73. PMID 16945910 DOI: 10.1073/Pnas.0605832103  0.4
2006 Maller J, George S, Purcell S, Fagerness J, Altshuler D, Daly MJ, Seddon JM. Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nature Genetics. 38: 1055-9. PMID 16936732 DOI: 10.1038/ng1873  0.32
2006 Florez JC, Jablonski KA, Bayley N, Pollin TI, de Bakker PI, Shuldiner AR, Knowler WC, Nathan DM, Altshuler D. TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program. The New England Journal of Medicine. 355: 241-50. PMID 16855264 DOI: 10.1056/Nejmoa062418  0.4
2006 Locke DP, Sharp AJ, McCarroll SA, McGrath SD, Newman TL, Cheng Z, Schwartz S, Albertson DG, Pinkel D, Altshuler DM, Eichler EE. Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. American Journal of Human Genetics. 79: 275-90. PMID 16826518 DOI: 10.1086/505653  0.4
2006 Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, Altshuler DM, Aburatani H, Jones KW, Tyler-Smith C, Hurles ME, Carter NP, Scherer SW, Lee C. Copy number variation: new insights in genome diversity. Genome Research. 16: 949-61. PMID 16809666 DOI: 10.1101/gr.3677206  0.4
2006 Sabeti PC, Schaffner SF, Fry B, Lohmueller J, Varilly P, Shamovsky O, Palma A, Mikkelsen TS, Altshuler D, Lander ES. Positive natural selection in the human lineage. Science (New York, N.Y.). 312: 1614-20. PMID 16778047 DOI: 10.1126/Science.1124309  0.88
2006 Saxena R, de Bakker PI, Singer K, Mootha V, Burtt N, Hirschhorn JN, Gaudet D, Isomaa B, Daly MJ, Groop L, Ardlie KG, Altshuler D. Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. American Journal of Human Genetics. 79: 54-61. PMID 16773565 DOI: 10.1086/504926  0.4
2006 Pe'er I, de Bakker PI, Maller J, Yelensky R, Altshuler D, Daly MJ. Evaluating and improving power in whole-genome association studies using fixed marker sets. Nature Genetics. 38: 663-7. PMID 16715096 DOI: 10.1038/Ng1816  0.32
2006 Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, González Escribano MF, Pons-Estel B, Petri M, Daly M, Gregersen PK, Martín J, ... Altshuler D, et al. 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. 38: 550-5. PMID 16642019 DOI: 10.1038/Ng1782  0.4
2006 Pe'er I, Chretien YR, de Bakker PI, Barrett JC, Daly MJ, Altshuler DM. Biases and reconciliation in estimates of linkage disequilibrium in the human genome. American Journal of Human Genetics. 78: 588-603. PMID 16532390 DOI: 10.1086/502803  0.4
2006 Sun MW, Lee JY, de Bakker PI, Burtt NP, Almgren P, RÃ¥stam L, Tuomi T, Gaudet D, Daly MJ, Hirschhorn JN, Altshuler D, Groop L, Florez JC. 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. 55: 849-55. PMID 16505254 DOI: 10.2337/Diabetes.55.03.06.Db05-1418  0.4
2006 Feigelson HS, Cox DG, Cann HM, Wacholder S, Kaaks R, Henderson BE, Albanes D, Altshuler D, Berglund G, Berrino F, Bingham S, Buring JE, Burtt NP, Calle EE, Chanock SJ, et al. Haplotype analysis of the HSD17B1 gene and risk of breast cancer: a comprehensive approach to multicenter analyses of prospective cohort studies. Cancer Research. 66: 2468-75. PMID 16489054 DOI: 10.1158/0008-5472.Can-05-3574  0.4
2006 McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, Barrett JC, Dallaire S, Gabriel SB, Lee C, Daly MJ, Altshuler DM. Common deletion polymorphisms in the human genome. Nature Genetics. 38: 86-92. PMID 16468122 DOI: 10.1038/ng1696  0.4
2006 Setiawan VW, Cheng I, Stram DO, Penney KL, Le Marchand L, Altshuler D, Kolonel LN, Hirschhorn J, Henderson BE, Freedman ML. 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. 15: 172-4. PMID 16434607 DOI: 10.1158/1055-9965.Epi-05-0625  0.4
2006 Bonnen PE, Pe'er I, Plenge RM, Salit J, Lowe JK, Shapero MH, Lifton RP, Breslow JL, Daly MJ, Reich DE, Jones KW, Stoffel M, Altshuler D, Friedman JM. Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nature Genetics. 38: 214-7. PMID 16429162 DOI: 10.1038/Ng1712  0.4
2006 Cheng I, Stram DO, Penney KL, Pike M, Le Marchand L, Kolonel LN, Hirschhorn J, Altshuler D, Henderson BE, Freedman ML. Common genetic variation in IGF1 and prostate cancer risk in the Multiethnic Cohort. Journal of the National Cancer Institute. 98: 123-34. PMID 16418515 DOI: 10.1093/Jnci/Djj013  0.4
2006 Florez JC, Wiltshire S, Agapakis CM, Burtt NP, de Bakker PI, Almgren P, Bengtsson Boström K, Tuomi T, Gaudet D, Daly MJ, Hirschhorn JN, McCarthy MI, Altshuler D, Groop L. High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people. Diabetes. 55: 128-35. PMID 16380485 DOI: 10.2337/Diabetes.55.01.06.Db05-0954  0.4
2006 Walsh EC, Sabeti P, Hutcheson HB, Fry B, Schaffner SF, de Bakker PI, Varilly P, Palma AA, Roy J, Cooper R, Winkler C, Zeng Y, de The G, Lander ES, O'Brien S, ... Altshuler D, et al. Searching for signals of evolutionary selection in 168 genes related to immune function. Human Genetics. 119: 92-102. PMID 16362345 DOI: 10.1007/S00439-005-0090-0  0.4
2005 Kraft P, Pharoah P, Chanock SJ, Albanes D, Kolonel LN, Hayes RB, Altshuler D, Andriole G, Berg C, Boeing H, Burtt NP, Bueno-de-Mesquita B, Calle EE, Cann H, Canzian F, et al. Genetic variation in the HSD17B1 gene and risk of prostate cancer. Plos Genetics. 1: e68. PMID 16311626 DOI: 10.1371/Journal.Pgen.0010068  0.4
2005 Schaffner SF, Foo C, Gabriel S, Reich D, Daly MJ, Altshuler D. Calibrating a coalescent simulation of human genome sequence variation. Genome Research. 15: 1576-83. PMID 16251467 DOI: 10.1101/gr.3709305  0.32
2005 Sabeti PC, Walsh E, Schaffner SF, Varilly P, Fry B, Hutcheson HB, Cullen M, Mikkelsen TS, Roy J, Patterson N, Cooper R, Reich D, Altshuler D, O'Brien S, Lander ES. The case for selection at CCR5-Delta32. Plos Biology. 3: e378. PMID 16248677 DOI: 10.1371/Journal.Pbio.0030378  0.88
2005 de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, Altshuler D. Efficiency and power in genetic association studies. Nature Genetics. 37: 1217-23. PMID 16244653 DOI: 10.1038/Ng1669  0.32
2005 Freedman ML, Penney KL, Stram DO, Riley S, McKean-Cowdin R, Le Marchand L, Altshuler D, Haiman CA. A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk. Cancer Research. 65: 7516-22. PMID 16103107 DOI: 10.1158/0008-5472.Can-05-0132  0.4
2005 Winckler W, Burtt NP, Holmkvist J, Cervin C, de Bakker PI, Sun M, Almgren P, Tuomi T, Gaudet D, Hudson TJ, Ardlie KG, Daly MJ, Hirschhorn JN, Altshuler D, Groop L. Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes. Diabetes. 54: 2336-42. PMID 16046299 DOI: 10.2337/Diabetes.54.8.2336  0.4
2005 Campbell CD, Ogburn EL, Lunetta KL, Lyon HN, Freedman ML, Groop LC, Altshuler D, Ardlie KG, Hirschhorn JN. Demonstrating stratification in a European American population. Nature Genetics. 37: 868-72. PMID 16041375 DOI: 10.1038/Ng1607  0.4
2005 Florez JC, Agapakis CM, Burtt NP, Sun M, Almgren P, RÃ¥stam L, Tuomi T, Gaudet D, Hudson TJ, Daly MJ, Ardlie KG, Hirschhorn JN, Groop L, Altshuler D. Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people. Diabetes. 54: 1884-91. PMID 15919813 DOI: 10.2337/Diabetes.54.6.1884  0.4
2005 Altshuler D, Hirschhorn JN. MEF2A sequence variants and coronary artery disease: a change of heart? The Journal of Clinical Investigation. 115: 831-3. PMID 15841171 DOI: 10.1172/Jci24715  0.4
2005 Daly MJ, Altshuler D. Partners in crime. Nature Genetics. 37: 337-8. PMID 15800643 DOI: 10.1038/ng0405-337  0.32
2005 Winckler W, Graham RR, de Bakker PI, Sun M, Almgren P, Tuomi T, Gaudet D, Hudson TJ, Ardlie KG, Daly MJ, Hirschhorn JN, Groop L, Altshuler D. Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people. Diabetes. 54: 886-92. PMID 15734869 DOI: 10.2337/Diabetes.54.3.886  0.4
2005 Winckler W, Myers SR, Richter DJ, Onofrio RC, McDonald GJ, Bontrop RE, McVean GA, Gabriel SB, Reich D, Donnelly P, Altshuler D. Comparison of fine-scale recombination rates in humans and chimpanzees. Science (New York, N.Y.). 308: 107-11. PMID 15705809 DOI: 10.1126/Science.1105322  0.4
2005 Pearce CL, Hirschhorn JN, Wu AH, Burtt NP, Stram DO, Young S, Kolonel LN, Henderson BE, Altshuler D, Pike MC. Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis. Journal of the National Cancer Institute. 97: 51-9. PMID 15632380 DOI: 10.1093/Jnci/Dji007  0.4
2005 Freedman ML, Pearce CL, Penney KL, Hirschhorn JN, Kolonel LN, Henderson BE, Altshuler D. 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. 76: 82-90. PMID 15570555 DOI: 10.1086/427224  0.4
2004 Florez JC, Sjögren M, Burtt N, Orho-Melander M, Schayer S, Sun M, Almgren P, Lindblad U, Tuomi T, Gaudet D, Hudson TJ, Daly MJ, Ardlie KG, Hirschhorn JN, Altshuler D, et al. Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes. Diabetes. 53: 3313-8. PMID 15561965 DOI: 10.2337/Diabetes.53.12.3313  0.4
2004 Freedman ML, Penney KL, Stram DO, Le Marchand L, Hirschhorn JN, Kolonel LN, Altshuler D, Henderson BE, Haiman CA. Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort. Human Molecular Genetics. 13: 2431-41. PMID 15317758 DOI: 10.1093/Hmg/Ddh270  0.4
2004 Paez JG, Lin M, Beroukhim R, Lee JC, Zhao X, Richter DJ, Gabriel S, Herman P, Sasaki H, Altshuler D, Li C, Meyerson M, Sellers WR. Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification. Nucleic Acids Research. 32: e71. PMID 15150323 DOI: 10.1093/Nar/Gnh069  0.88
2004 Tantisira KG, Lake S, Silverman ES, Palmer LJ, Lazarus R, Silverman EK, Liggett SB, Gelfand EW, Rosenwasser LJ, Richter B, Israel E, Wechsler M, Gabriel S, Altshuler D, Lander E, et al. Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroids. Human Molecular Genetics. 13: 1353-9. PMID 15128701 DOI: 10.1093/Hmg/Ddh149  0.88
2004 Florez JC, Burtt N, de Bakker PI, Almgren P, Tuomi T, Holmkvist J, Gaudet D, Hudson TJ, Schaffner SF, Daly MJ, Hirschhorn JN, Groop L, Altshuler D. Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes. 53: 1360-8. PMID 15111507 DOI: 10.2337/Diabetes.53.5.1360  0.4
2004 Mootha VK, Handschin C, Arlow D, Xie X, St Pierre J, Sihag S, Yang W, Altshuler D, Puigserver P, Patterson N, Willy PJ, Schulman IG, Heyman RA, Lander ES, Spiegelman BM. 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. 101: 6570-5. PMID 15100410 DOI: 10.1073/Pnas.0401401101  0.4
2004 Smith MW, Patterson N, Lautenberger JA, Truelove AL, McDonald GJ, Waliszewska A, Kessing BD, Malasky MJ, Scafe C, Le E, De Jager PL, Mignault AA, Yi Z, De The G, Essex M, ... ... Altshuler D, et al. A high-density admixture map for disease gene discovery in african americans. American Journal of Human Genetics. 74: 1001-13. PMID 15088270 DOI: 10.1086/420856  0.4
2004 Patterson N, Hattangadi N, Lane B, Lohmueller KE, Hafler DA, Oksenberg JR, Hauser SL, Smith MW, O'Brien SJ, Altshuler D, Daly MJ, Reich D. Methods for high-density admixture mapping of disease genes. American Journal of Human Genetics. 74: 979-1000. PMID 15088269 DOI: 10.1086/420871  0.4
2004 Freedman ML, Reich D, Penney KL, McDonald GJ, Mignault AA, Patterson N, Gabriel SB, Topol EJ, Smoller JW, Pato CN, Pato MT, Petryshen TL, Kolonel LN, Lander ES, Sklar P, ... ... Altshuler D, et al. Assessing the impact of population stratification on genetic association studies. Nature Genetics. 36: 388-93. PMID 15052270 DOI: 10.1038/Ng1333  0.4
2003 Paracchini S, Pearce CL, Kolonel LN, Altshuler D, Henderson BE, Tyler-Smith C. A Y chromosomal influence on prostate cancer risk: the multi-ethnic cohort study. Journal of Medical Genetics. 40: 815-9. PMID 14627670 DOI: 10.1136/Jmg.40.11.815  0.4
2003 Stram DO, Leigh Pearce C, Bretsky P, Freedman M, Hirschhorn JN, Altshuler D, Kolonel LN, Henderson BE, Thomas DC. Modeling and E-M estimation of haplotype-specific relative risks from genotype data for a case-control study of unrelated individuals. Human Heredity. 55: 179-90. PMID 14566096 DOI: 10.1159/000073202  0.4
2003 Florez JC, Hirschhorn J, Altshuler D. The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits. Annual Review of Genomics and Human Genetics. 4: 257-91. PMID 14527304 DOI: 10.1146/Annurev.Genom.4.070802.110436  0.4
2003 Haiman CA, Stram DO, Pike MC, Kolonel LN, Burtt NP, Altshuler D, Hirschhorn J, Henderson BE. A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort. Human Molecular Genetics. 12: 2679-92. PMID 12944421 DOI: 10.1093/Hmg/Ddg294  0.4
2003 Stram DO, Haiman CA, Hirschhorn JN, Altshuler D, Kolonel LN, Henderson BE, Pike MC. 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. 55: 27-36. PMID 12890923 DOI: 10.1159/000071807  0.4
2003 Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, Puigserver P, Carlsson E, RidderstrÃ¥le M, Laurila E, Houstis N, Daly MJ, Patterson N, Mesirov JP, Golub TR, ... ... Altshuler D, et al. PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nature Genetics. 34: 267-73. PMID 12808457 DOI: 10.1038/Ng1180  0.4
2002 Cowles CR, Hirschhorn JN, Altshuler D, Lander ES. Detection of regulatory variation in mouse genes. Nature Genetics. 32: 432-7. PMID 12410233 DOI: 10.1038/Ng992  0.4
2002 Sabeti PC, Reich DE, Higgins JM, Levine HZ, Richter DJ, Schaffner SF, Gabriel SB, Platko JV, Patterson NJ, McDonald GJ, Ackerman HC, Campbell SJ, Altshuler D, Cooper R, Kwiatkowski D, et al. Detecting recent positive selection in the human genome from haplotype structure. Nature. 419: 832-7. PMID 12397357 DOI: 10.1038/Nature01140  0.4
2002 Hirschhorn JN, Altshuler D. Once and again-issues surrounding replication in genetic association studies. The Journal of Clinical Endocrinology and Metabolism. 87: 4438-41. PMID 12364414 DOI: 10.1210/Jc.2002-021329  0.4
2002 Reich DE, Schaffner SF, Daly MJ, McVean G, Mullikin JC, Higgins JM, Richter DJ, Lander ES, Altshuler D. Human genome sequence variation and the influence of gene history, mutation and recombination. Nature Genetics. 32: 135-42. PMID 12161752 DOI: 10.1038/Ng947  0.4
2002 Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, ... ... Altshuler D, et al. The structure of haplotype blocks in the human genome. Science (New York, N.Y.). 296: 2225-9. PMID 12029063 DOI: 10.1126/Science.1069424  0.48
2002 Engert JC, Vohl MC, Williams SM, Lepage P, Loredo-Osti JC, Faith J, Doré C, Renaud Y, Burtt NP, Villeneuve A, Hirschhorn JN, Altshuler D, Groop LC, Després JP, Gaudet D, et al. 5' flanking variants of resistin are associated with obesity. Diabetes. 51: 1629-34. PMID 11978666 DOI: 10.2337/Diabetes.51.5.1629  0.4
2001 Hirschhorn JN, Lindgren CM, Daly MJ, Kirby A, Schaffner SF, Burtt NP, Altshuler D, Parker A, Rioux JD, Platko J, Gaudet D, Hudson TJ, Groop LC, Lander ES. Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. American Journal of Human Genetics. 69: 106-16. PMID 11410839 DOI: 10.1086/321287  0.88
2001 Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning Z, ... ... Altshuler D, et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 409: 928-33. PMID 11237013 DOI: 10.1038/35057149  0.88
2001 Moore KJ, Rosen ED, Fitzgerald ML, Randow F, Andersson LP, Altshuler D, Milstone DS, Mortensen RM, Spiegelman BM, Freeman MW. The role of PPAR-gamma in macrophage differentiation and cholesterol uptake. Nature Medicine. 7: 41-7. PMID 11135614 DOI: 10.1038/83328  0.4
2000 Altshuler D, Pollara VJ, Cowles CR, Van Etten WJ, Baldwin J, Linton L, Lander ES. An SNP map of the human genome generated by reduced representation shotgun sequencing. Nature. 407: 513-6. PMID 11029002 DOI: 10.1038/35035083  0.48
2000 Altshuler D, Daly M, Kruglyak L. Guilt by association. Nature Genetics. 26: 135-7. PMID 11017062 DOI: 10.1038/79839  0.4
2000 Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, Lane CR, Schaffner SF, Bolk S, Brewer C, Tuomi T, Gaudet D, Hudson TJ, Daly M, Groop L, et al. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nature Genetics. 26: 76-80. PMID 10973253 DOI: 10.1038/79216  0.4
1999 Sidow A, Bulotsky MS, Kerrebrock AW, Birren BW, Altshuler D, Jaenisch R, Johnson KR, Lander ES. A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant. Nature Genetics. 23: 104-7. PMID 10471509 DOI: 10.1038/12709  0.48
1999 Altshuler D, Hirschhorn JN. Upsetting the balance: VGF and the regulation of body weight. Neuron. 23: 415-7. PMID 10433252 DOI: 10.1016/S0896-6273(00)80793-X  0.4
1999 Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nature Genetics. 22: 231-8. PMID 10391209 DOI: 10.1038/10290  0.4
1999 Ross RK, Coetzee GA, Pearce CL, Reichardt JK, Bretsky P, Kolonel LN, Henderson BE, Lander E, Altshuler D, Daley G. Androgen metabolism and prostate cancer: establishing a model of genetic susceptibility. European Urology. 35: 355-61. PMID 10325489 DOI: 10.1159/000019909  0.4
1999 Sklar P, Altshuler D, Cargill M, Hirschhorn JN. DNA microarrays for polymorphism detection and genotyping: Utility in the understanding of complex neuropsychiatric diseases Cns Spectrums. 4: 59-74. DOI: 10.1017/S1092852900011743  0.4
1998 Altshuler D, Kruglyak L, Lander E. Genetic polymorphisms and disease. The New England Journal of Medicine. 338: 1626. PMID 9606122 DOI: 10.1056/Nejm199805283382214  0.88
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