| Year |
Citation |
Score |
| 2023 |
Costanzo MC, von Grotthuss M, Massung J, Jang D, Caulkins L, Koesterer R, Gilbert C, Welch RP, Kudtarkar P, Hoang Q, Boughton AP, Singh P, Sun Y, Duby M, Moriondo A, ... ... Altshuler D, et al. The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits. Cell Metabolism. PMID 36963395 DOI: 10.1016/j.cmet.2023.03.001 |
0.307 |
|
| 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 |
0.416 |
|
| 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 |
0.508 |
|
| 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 |
0.396 |
|
| 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 |
0.775 |
|
| 2017 |
Jun G, Manning A, Almeida M, Zawistowski M, Wood AR, Teslovich TM, Fuchsberger C, Feng S, Cingolani P, Gaulton KJ, Dyer T, Blackwell TW, Chen H, Chines PS, Choi S, ... ... Altshuler D, et al. Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees. Proceedings of the National Academy of Sciences of the United States of America. PMID 29279374 DOI: 10.1073/Pnas.1705859115 |
0.505 |
|
| 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 |
0.819 |
|
| 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 |
0.775 |
|
| 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 |
0.544 |
|
| 2017 |
Scott RA, Scott LJ, Mägi R, Marullo L, Gaulton KJ, Kaakinen M, Pervjakova N, Pers TH, Johnson AD, Eicher JD, Jackson AU, Ferreira T, Lee Y, Ma C, Steinthorsdottir V, ... ... Altshuler D, et al. An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. Diabetes. PMID 28566273 DOI: 10.2337/Db16-1253 |
0.523 |
|
| 2017 |
Billings LK, Jablonski KA, Warner AS, Cheng YC, McAteer JB, Tipton L, Shuldiner AR, Ehrmann DA, Manning AK, Dabelea D, Franks PW, Kahn SE, Pollin TI, Knowler WC, Altshuler D, et al. Variation in Maturity-Onset Diabetes of the Young genes influence response to interventions for diabetes prevention. The Journal of Clinical Endocrinology and Metabolism. PMID 28453780 DOI: 10.1210/Jc.2016-3429 |
0.383 |
|
| 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 |
0.58 |
|
| 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 |
0.445 |
|
| 2016 |
Majithia AR, Tsuda B, Agostini M, Gnanapradeepan K, Rice R, Peloso G, Patel KA, Zhang X, Broekema MF, Patterson N, Duby M, Sharpe T, Kalkhoven E, Rosen ED, Barroso I, ... ... Altshuler D, et al. Prospective functional classification of all possible missense variants in PPARG. Nature Genetics. PMID 27749844 DOI: 10.1038/Ng.3700 |
0.809 |
|
| 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 |
0.443 |
|
| 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 |
0.446 |
|
| 2016 |
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, ... ... Altshuler DM, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 536: 285-291. PMID 27535533 DOI: 10.1038/Nature19057 |
0.493 |
|
| 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 |
0.576 |
|
| 2016 |
Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P, Moutsianas L, McCarthy DJ, Rivas MA, Perry JR, Sim X, Blackwell TW, Robertson NR, ... ... Altshuler D, et al. The genetic architecture of type 2 diabetes. Nature. PMID 27398621 DOI: 10.1038/Nature18642 |
0.821 |
|
| 2016 |
Page A, Baker D, Bobrow M, Boycott K, Burn J, Chanock S, Donnelly S, Dove E, Durbin R, Dyke S, Fiume M, Flicek P, Glazer D, Goodhand P, Haussler D, ... ... Altshuler D, et al. A federated ecosystem for sharing genomic, clinical data Science. PMID 27284183 DOI: 10.1126/Science.Aaf6162 |
0.301 |
|
| 2016 |
Horikoshi M, Pasquali L, Wiltshire S, Huyghe JR, Mahajan A, Asimit JL, Ferreira T, Locke AE, Robertson NR, Wang X, Sim X, Fujita H, Hara K, Young R, Zhang W, ... ... Altshuler D, et al. Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms. Human Molecular Genetics. PMID 26911676 DOI: 10.1093/Hmg/Ddw048 |
0.473 |
|
| 2016 |
Kan M, Auer PL, Wang GT, Bucasas KL, Hooker S, Rodriguez A, Li B, Ellis J, Adrienne Cupples L, Ida Chen YD, Dupuis J, Fox CS, Gross MD, Smith JD, Heard-Costa N, ... ... Altshuler D, et al. Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project. European Journal of Human Genetics : Ejhg. PMID 26757982 DOI: 10.1038/Ejhg.2015.272 |
0.465 |
|
| 2015 |
Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Mägi R, Reschen ME, Mahajan A, Locke A, William Rayner N, Robertson N, Scott RA, Prokopenko I, Scott LJ, Green T, Sparso T, ... ... Altshuler D, et al. Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nature Genetics. PMID 26551672 DOI: 10.1038/Ng.3437 |
0.49 |
|
| 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 |
0.761 |
|
| 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 |
0.52 |
|
| 2015 |
Mahajan A, Sim X, Ng HJ, Manning A, Rivas MA, Highland HM, Locke AE, Grarup N, Im HK, Cingolani P, Flannick J, Fontanillas P, Fuchsberger C, Gaulton KJ, Teslovich TM, ... ... Altshuler D, et al. Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. Plos Genetics. 11: e1004876. PMID 25625282 DOI: 10.1371/Journal.Pgen.1004876 |
0.491 |
|
| 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 |
0.543 |
|
| 2015 |
Do R, Stitziel NO, Won HH, Jørgensen AB, Duga S, Angelica Merlini P, Kiezun A, Farrall M, Goel A, Zuk O, Guella I, Asselta R, Lange LA, Peloso GM, Auer PL, ... ... Altshuler D, et al. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature. 518: 102-6. PMID 25487149 DOI: 10.1038/Nature13917 |
0.515 |
|
| 2015 |
Segrè AV, Wei N, Altshuler D, Florez JC. Pathways targeted by antidiabetes drugs are enriched for multiple genes associated with type 2 diabetes risk. Diabetes. 64: 1470-83. PMID 25368101 DOI: 10.2337/Db14-0703 |
0.433 |
|
| 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 |
0.425 |
|
| 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 |
0.518 |
|
| 2014 |
Stitziel NO, Won HH, Morrison AC, Peloso GM, Do R, Lange LA, Fontanillas P, Gupta N, Duga S, Goel A, Farrall M, Saleheen D, Ferrario P, König I, ... ... Altshuler D, et al. Inactivating mutations in NPC1L1 and protection from coronary heart disease. The New England Journal of Medicine. 371: 2072-82. PMID 25390462 DOI: 10.1056/Nejmoa1405386 |
0.448 |
|
| 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 |
0.46 |
|
| 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 |
0.523 |
|
| 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 |
0.443 |
|
| 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 |
0.338 |
|
| 2014 |
Crosby J, Peloso GM, Auer PL, Crosslin DR, Stitziel NO, Lange LA, Lu Y, Tang ZZ, Zhang H, Hindy G, Masca N, Stirrups K, Kanoni S, Do R, ... ... Altshuler D, et al. Loss-of-function mutations in APOC3, triglycerides, and coronary disease. The New England Journal of Medicine. 371: 22-31. PMID 24941081 DOI: 10.1056/Nejmoa1307095 |
0.339 |
|
| 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 |
0.385 |
|
| 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 |
0.77 |
|
| 2014 |
Flannick J, Thorleifsson G, Beer NL, Jacobs SB, Grarup N, Burtt NP, Mahajan A, Fuchsberger C, Atzmon G, Benediktsson R, Blangero J, Bowden DW, Brandslund I, Brosnan J, Burslem F, ... ... Altshuler D, et al. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nature Genetics. 46: 357-63. PMID 24584071 DOI: 10.1038/Ng.2915 |
0.432 |
|
| 2014 |
Mahajan A, Go MJ, Zhang W, Below JE, Gaulton KJ, Ferreira T, Horikoshi M, Johnson AD, Ng MC, Prokopenko I, ... ... Altshuler D, et al. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nature Genetics. 46: 234-44. PMID 24509480 DOI: 10.1038/Ng.2897 |
0.768 |
|
| 2014 |
Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang ZZ, Bizon C, Lange EM, Smith JD, Turner EH, Jun G, Kang HM, Peloso G, Auer P, Li KP, ... ... Altshuler D, et al. Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. American Journal of Human Genetics. 94: 233-45. PMID 24507775 DOI: 10.1016/J.Ajhg.2014.01.010 |
0.427 |
|
| 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 |
0.521 |
|
| 2014 |
Jaiswal S, Fontanillas P, Flannick J, Manning A, Grauman P, Mar BG, Lindsley RC, Mermel C, Burtt N, Chavez A, Higgins JM, Moltchanov V, Kinnunen L, Koistinen H, Ladenvall C, ... ... Altshuler D, et al. Clonal Hematopoiesis with Somatic Mutations Is a Common, Age-Related Condition Associated with Adverse Outcomes Blood. 124: 840-840. DOI: 10.1182/Blood.V124.21.840.840 |
0.404 |
|
| 2014 |
Schrader KA, Maxwell KN, Vijai J, Hart S, Thomas T, Wubbenhorst B, Guidugli L, Klein R, Corines M, Zhang L, Neuhausen S, Weitzel J, Gupta N, Norton L, Hudis C, ... ... Altshuler D, et al. Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer Cancer Research. 74: 3282-3282. DOI: 10.1158/1538-7445.Am2014-3282 |
0.469 |
|
| 2014 |
Vijai J, Hart S, Thomas T, Wubbenhorst B, Guidugli L, Schrader K, Maxwell K, Jacobs L, Villano D, Klein R, Lipkin S, Neuhausen S, Weitzel J, Altshuler D, Couch F, et al. Abstract 2378: Harmonization of next generation sequencing data within consortia for gene discovery in familial breast cancer Cancer Research. 74: 2378-2378. DOI: 10.1158/1538-7445.Am2014-2378 |
0.368 |
|
| 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 |
0.372 |
|
| 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 |
0.767 |
|
| 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 |
0.775 |
|
| 2013 |
Do R, Willer CJ, Schmidt EM, Sengupta S, Gao C, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS, Bragg-Gresham JL, Chang HY, ... ... Altshuler D, et al. Common variants associated with plasma triglycerides and risk for coronary artery disease. Nature Genetics. 45: 1345-52. PMID 24097064 DOI: 10.1038/Ng.2795 |
0.478 |
|
| 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 |
0.313 |
|
| 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 |
0.458 |
|
| 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 |
0.309 |
|
| 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 |
0.301 |
|
| 2013 |
Gaudet MM, Kuchenbaecker KB, Vijai J, Klein RJ, Kirchhoff T, McGuffog L, Barrowdale D, Dunning AM, Lee A, Dennis J, Healey S, Dicks E, Soucy P, Sinilnikova OM, Pankratz VS, ... ... Altshuler D, et al. Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. Plos Genetics. 9: e1003173. PMID 23544012 DOI: 10.1371/Journal.Pgen.1003173 |
0.363 |
|
| 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 |
0.433 |
|
| 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 |
0.452 |
|
| 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 |
0.419 |
|
| 2013 |
Albrechtsen A, Grarup N, Li Y, Sparsø T, Tian G, Cao H, Jiang T, Kim SY, Korneliussen T, Li Q, Nie C, Wu R, Skotte L, Morris AP, Ladenvall C, ... ... Altshuler D, et al. Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. Diabetologia. 56: 298-310. PMID 23160641 DOI: 10.1007/S00125-012-2756-1 |
0.456 |
|
| 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, Project NES, Akey JM. Erratum: Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants Nature. 495: 270-270. DOI: 10.1038/Nature12022 |
0.329 |
|
| 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 |
0.302 |
|
| 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 |
0.363 |
|
| 2012 |
Morris AP, Voight BF, Teslovich TM, Ferreira T, Segrè AV, Steinthorsdottir V, Strawbridge RJ, Khan H, Grallert H, Mahajan A, Prokopenko I, Kang HM, Dina C, Esko T, Fraser RM, ... ... Altshuler D, et al. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nature Genetics. 44: 981-90. PMID 22885922 DOI: 10.1038/Ng.2383 |
0.735 |
|
| 2012 |
Lucas G, LluÃs-Ganella C, Subirana I, Musameh MD, Gonzalez JR, Nelson CP, Sentà 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 |
0.381 |
|
| 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 |
0.748 |
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| 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 |
0.32 |
|
| 2012 |
Voight BF, Peloso GM, Orho-Melander M, Frikke-Schmidt R, Barbalic M, Jensen MK, Hindy G, Hólm H, Ding EL, Johnson T, Schunkert H, Samani NJ, Clarke R, Hopewell JC, Thompson JF, ... ... Altshuler D, et al. Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet. 380: 572-80. PMID 22607825 DOI: 10.1016/S0140-6736(12)60312-2 |
0.422 |
|
| 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 |
0.453 |
|
| 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 |
0.445 |
|
| 2012 |
Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikäinen LP, Fuchsberger C, Tanaka T, Morris AP, Small K, Isaacs A, ... ... Altshuler D, et al. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. Plos Genetics. 8: e1002607. PMID 22479202 DOI: 10.1371/Journal.Pgen.1002607 |
0.541 |
|
| 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 |
0.447 |
|
| 2012 |
Saxena R, Elbers CC, Guo Y, Peter I, Gaunt TR, Mega JL, Lanktree MB, Tare A, Castillo BA, Li YR, Johnson T, Bruinenberg M, Gilbert-Diamond D, Rajagopalan R, Voight BF, ... ... Altshuler D, et al. Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. American Journal of Human Genetics. 90: 410-25. PMID 22325160 DOI: 10.1016/J.Ajhg.2011.12.022 |
0.508 |
|
| 2012 |
Palmer ND, McDonough CW, Hicks PJ, Roh BH, Wing MR, An SS, Hester JM, Cooke JN, Bostrom MA, Rudock ME, Talbert ME, Lewis JP, Ferrara A, ... ... Altshuler D, et al. A genome-wide association search for type 2 diabetes genes in African Americans. Plos One. 7: e29202. PMID 22238593 DOI: 10.1371/Journal.Pone.0029202 |
0.607 |
|
| 2012 |
Saxena R, Elbers C, Guo Y, Peter I, Gaunt T, Mega J, Lanktree M, Tare A, Castillo B, Li Y, Johnson T, Bruinenberg M, Gilbert-Diamond D, Rajagopalan R, Voight B, ... ... Altshuler D, et al. Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci The American Journal of Human Genetics. 90: 753. DOI: 10.1016/J.Ajhg.2012.03.001 |
0.409 |
|
| 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 |
0.445 |
|
| 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 |
0.601 |
|
| 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 |
0.313 |
|
| 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 |
0.559 |
|
| 2011 |
Ehret GB, Munroe PB, Rice KM, Bochud M, Johnson AD, Chasman DI, Smith AV, Tobin MD, Verwoert GC, Hwang SJ, Pihur V, Vollenweider P, O'Reilly PF, Amin N, ... ... Altshuler D, et al. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature. 478: 103-9. PMID 21909115 DOI: 10.1038/Nature10405 |
0.308 |
|
| 2011 |
Wain LV, Verwoert GC, O'Reilly PF, Shi G, Johnson T, Johnson AD, Bochud M, Rice KM, Henneman P, Smith AV, Ehret GB, Amin N, Larson MG, Mooser V, Hadley D, ... ... Altshuler D, et al. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nature Genetics. 43: 1005-11. PMID 21909110 DOI: 10.1038/Ng.922 |
0.344 |
|
| 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 |
0.805 |
|
| 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 |
0.317 |
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| 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 |
0.371 |
|
| 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 |
0.466 |
|
| 2011 |
Im KM, Kirchhoff T, Wang X, Green T, Chow CY, Vijai J, Korn J, Gaudet MM, Fredericksen Z, Shane Pankratz V, Guiducci C, Crenshaw A, McGuffog L, Kartsonaki C, Morrison J, ... ... Altshuler DM, et al. Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. Human Genetics. 130: 685-99. PMID 21597964 DOI: 10.1007/S00439-011-1003-Z |
0.44 |
|
| 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 |
0.412 |
|
| 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 |
0.541 |
|
| 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 |
0.444 |
|
| 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 |
0.435 |
|
| 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 |
0.417 |
|
| 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 |
0.357 |
|
| 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 |
0.331 |
|
| 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 |
0.507 |
|
| 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 |
0.733 |
|
| 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. |
0.322 |
|
| 2010 |
Gaudet MM, Kirchhoff T, Green T, Vijai J, Korn JM, Guiducci C, Segrè AV, McGee K, McGuffog L, Kartsonaki C, Morrison J, Healey S, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, ... ... Altshuler DM, et al. Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. Plos Genetics. 6: e1001183. PMID 21060860 DOI: 10.1371/Journal.Pgen.1001183 |
0.482 |
|
| 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 |
0.467 |
|
| 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 |
0.47 |
|
| 2010 |
Assimes TL, Hólm H, Kathiresan S, Reilly MP, Thorleifsson G, Voight BF, Erdmann J, Willenborg C, Vaidya D, Xie C, Patterson CC, Morgan TM, Burnett MS, Li M, Hlatky MA, ... ... Altshuler D, et al. Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. Journal of the American College of Cardiology. 56: 1552-63. PMID 20933357 DOI: 10.1016/J.Jacc.2010.06.022 |
0.534 |
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| 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 |
0.454 |
|
| 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 Aâ‚(C) levels via glycemic and nonglycemic pathways. Diabetes. 59: 3229-39. PMID 20858683 DOI: 10.2337/Db10-0502 |
0.448 |
|
| 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 |
0.341 |
|
| 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 |
0.49 |
|
| 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 |
0.655 |
|
| 2010 |
Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Peltonen L, Dermitzakis E, Bonnen PE, Altshuler DM, Gibbs RA, et al. Integrating common and rare genetic variation in diverse human populations. Nature. 467: 52-8. PMID 20811451 DOI: 10.1038/Nature09298 |
0.546 |
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| 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 |
0.684 |
|
| 2010 |
Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, ... ... Altshuler D, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 466: 707-13. PMID 20686565 DOI: 10.1038/Nature09270 |
0.382 |
|
| 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 |
0.435 |
|
| 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 |
0.504 |
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| 2010 |
Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, McCulloch LJ, Ferreira T, Grallert H, Amin N, Wu G, ... ... Altshuler D, et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nature Genetics. 42: 579-89. PMID 20581827 DOI: 10.1038/Ng.609 |
0.582 |
|
| 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 |
0.375 |
|
| 2010 |
Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, ... ... Altshuler D, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nature Genetics. 42: 105-16. PMID 20081858 DOI: 10.1038/Ng.520 |
0.413 |
|
| 2010 |
Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, Vollenweider P, Lyssenko V, Bouatia-Naji N, Dupuis J, Jackson AU, Kao WH, Li M, Glazer NL, Manning AK, Luan J, ... ... Altshuler D, et al. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nature Genetics. 42: 142-8. PMID 20081857 DOI: 10.1038/Ng.521 |
0.358 |
|
| 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 |
0.412 |
|
| 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 |
0.334 |
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| 2010 |
Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, ... ... Altshuler D, et al. Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk Nature Genetics. 42: 464-464. DOI: 10.1038/Ng0510-464A |
0.391 |
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| 2010 |
Neale BM, Rivas MA, Voight BF, Altshuler D, Devlin B, Orho-Melander M, Katherisan S, Roeder K, Daly MJ. Testing for an unusual distribution of rare variation Behavior Genetics. 40: 807-807. DOI: 10.1007/S10519-010-9392-7 |
0.461 |
|
| 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 |
0.339 |
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| 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 |
0.498 |
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| 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 |
0.412 |
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| 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 |
0.713 |
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| 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 |
0.473 |
|
| 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 |
0.47 |
|
| 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 |
0.421 |
|
| 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 |
0.563 |
|
| 2009 |
Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, Coin L, Najjar SS, Zhao JH, Heath SC, Eyheramendy S, Papadakis K, Voight BF, Scott LJ, Zhang F, Farrall M, ... ... Altshuler D, et al. Genome-wide association study identifies eight loci associated with blood pressure. Nature Genetics. 41: 666-76. PMID 19430483 DOI: 10.1038/Ng.361 |
0.33 |
|
| 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 |
0.471 |
|
| 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 |
0.428 |
|
| 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 |
0.345 |
|
| 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 |
0.564 |
|
| 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 |
0.536 |
|
| 2009 |
Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, Lettre G, Lim N, Lyon HN, McCarroll SA, Papadakis K, ... ... Altshuler D, et al. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nature Genetics. 41: 25-34. PMID 19079261 DOI: 10.1038/Ng.287 |
0.37 |
|
| 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 |
0.374 |
|
| 2009 |
Prokopenko I, Langenberg C, Florez JC, Saxena R, Soranzo N, Thorleifsson G, Loos RJ, Manning AK, Jackson AU, Aulchenko Y, Potter SC, Erdos MR, Sanna S, Hottenga JJ, Wheeler E, ... ... Altshuler D, et al. Variants in MTNR1B influence fasting glucose levels. Nature Genetics. 41: 77-81. PMID 19060907 DOI: 10.1038/Ng.290 |
0.429 |
|
| 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 |
0.348 |
|
| 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 |
0.522 |
|
| 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 |
0.541 |
|
| 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 |
0.531 |
|
| 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 |
0.489 |
|
| 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 |
0.387 |
|
| 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 |
0.622 |
|
| 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 |
0.601 |
|
| 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 |
0.527 |
|
| 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 |
0.568 |
|
| 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 |
0.591 |
|
| 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 |
0.45 |
|
| 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 |
0.385 |
|
| 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 |
0.41 |
|
| 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 |
0.395 |
|
| 2008 |
Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, de Bakker PI, Abecasis GR, Almgren P, Andersen G, Ardlie K, Boström KB, Bergman RN, Bonnycastle LL, Borch-Johnsen K, ... ... Altshuler D, et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nature Genetics. 40: 638-45. PMID 18372903 DOI: 10.1038/Ng.120 |
0.587 |
|
| 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 |
0.526 |
|
| 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 |
0.589 |
|
| 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 |
0.399 |
|
| 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 |
0.33 |
|
| 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 |
0.321 |
|
| 2008 |
Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MAR, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, et al. Association Between Microdeletion and Microduplication at 16p11.2 and Autism Obstetrical & Gynecological Survey. 63: 361-363. DOI: 10.1097/01.OGX.0000316305.61461.6F |
0.37 |
|
| 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 |
0.341 |
|
| 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 |
0.553 |
|
| 2007 |
Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES, Frazer KA, Ballinger DG, ... ... Altshuler D, ... ... Altshuler D, ... ... Altshuler D, et al. Genome-wide detection and characterization of positive selection in human populations. Nature. 449: 913-8. PMID 17943131 DOI: 10.1038/Nature06250 |
0.633 |
|
| 2007 |
Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, ... ... Altshuler D, ... ... Altshuler D, ... ... Altshuler D, et al. A second generation human haplotype map of over 3.1 million SNPs. Nature. 449: 851-61. PMID 17943122 DOI: 10.1038/Nature06258 |
0.565 |
|
| 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 |
0.322 |
|
| 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 |
0.374 |
|
| 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 |
0.337 |
|
| 2007 |
McCarroll SA, Altshuler DM. Copy-number variation and association studies of human disease. Nature Genetics. 39: S37-42. PMID 17597780 DOI: 10.1038/Ng2080 |
0.346 |
|
| 2007 |
Altshuler D, Daly M. Guilt beyond a reasonable doubt. Nature Genetics. 39: 813-5. PMID 17597768 DOI: 10.1038/Ng0707-813 |
0.586 |
|
| 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 |
0.516 |
|
| 2007 |
Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, et al. Completing the map of human genetic variation. Nature. 447: 161-5. PMID 17495918 DOI: 10.1038/447161A |
0.445 |
|
| 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 |
0.551 |
|
| 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 |
0.616 |
|
| 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 |
0.544 |
|
| 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 |
0.591 |
|
| 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 |
0.354 |
|
| 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 |
0.343 |
|
| 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 |
0.781 |
|
| 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 |
0.391 |
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| 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 |
0.397 |
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| 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 |
0.404 |
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| 2007 |
Saxena R, de Bakker PI, Groop LC, Daly MJ, Altshuler D. Reply to Elson et al. The American Journal of Human Genetics. 80: 382-383. DOI: 10.1086/511653 |
0.358 |
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| 2007 |
Pe'er I, Yelensky R, Altshuler D, Daly MJ. Estimation of the Multiple Testing Burden for Genomewide Association Studies of Common Variants Nature Precedings. 2: 1-1. DOI: 10.1038/Npre.2007.359.1 |
0.521 |
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| 2007 |
De Jager P, Yelensky R, Rossin E, Bonadkar S, Choy E, Daly M, Altshuler D, Hafler D. A Genome-wide Screen for Genetic Variants Affecting the Expression of Immunologically Relevant Cell Surface Markers Clinical Immunology. 123: S153. DOI: 10.1016/J.Clim.2007.03.076 |
0.507 |
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| 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 |
0.414 |
|
| 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 |
0.767 |
|
| 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 |
0.341 |
|
| 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 |
0.767 |
|
| 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 |
0.519 |
|
| 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 |
0.704 |
|
| 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 |
0.569 |
|
| 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: 10.1016/J.Ajo.2006.11.012 |
0.581 |
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| 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 |
0.42 |
|
| 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 |
0.342 |
|
| 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 |
0.311 |
|
| 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 |
0.53 |
|
| 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 |
0.693 |
|
| 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 |
0.574 |
|
| 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, MartÃn 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 |
0.541 |
|
| 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 |
0.532 |
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| 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 |
0.599 |
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| 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 |
0.383 |
|
| 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 |
0.547 |
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| 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 |
0.307 |
|
| 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 |
0.569 |
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| 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 |
0.592 |
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| 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 |
0.559 |
|
| 2005 |
Plenge RM, Padyukov L, Remmers EF, Purcell S, Lee AT, Karlson EW, Wolfe F, Kastner DL, Alfredsson L, Altshuler D, Gregersen PK, Klareskog L, Rioux JD. 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. 77: 1044-60. PMID 16380915 DOI: 10.1086/498651 |
0.333 |
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| 2005 |
Hunter DJ, Riboli E, Haiman CA, Albanes D, Altshuler D, Chanock SJ, Haynes RB, Henderson BE, Kaaks R, Stram DO, Thomas G, Thun MJ, Blanché H, Buring JE, Burtt NP, et al. A candidate gene approach to searching for low-penetrance breast and prostate cancer genes. Nature Reviews. Cancer. 5: 977-85. PMID 16341085 DOI: 10.1038/Nrc1754 |
0.31 |
|
| 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 |
0.318 |
|
| 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 |
0.524 |
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| 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 |
0.53 |
|
| 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 |
0.542 |
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| 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 |
0.398 |
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| 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 |
0.785 |
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| 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 |
0.437 |
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| 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 |
0.578 |
|
| 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 |
0.312 |
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| 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 |
0.775 |
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| 2005 |
Altshuler D, Clark AG. Genetics. Harvesting medical information from the human family tree. Science (New York, N.Y.). 307: 1052-3. PMID 15718454 DOI: 10.1126/Science.1109682 |
0.34 |
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| 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 |
0.652 |
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| 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 |
0.352 |
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| 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 |
0.413 |
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| 2005 |
Altshuler D. Response to Wang et al. Journal of Clinical Investigation. 115: 1401-1401. DOI: 10.1172/Jci25477 |
0.331 |
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| 2005 |
Belmont JW, Boudreau A, Leal SM, Hardenbol P, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, ... ... Altshuler D, et al. A haplotype map of the human genome Nature. 437: 1299-1320. DOI: 10.1038/Nature04226 |
0.461 |
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| 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 |
0.574 |
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| 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 |
0.382 |
|
| 2004 |
Kolonel LN, Altshuler D, Henderson BE. The multiethnic cohort study: exploring genes, lifestyle and cancer risk. Nature Reviews. Cancer. 4: 519-27. PMID 15229477 DOI: 10.1038/nrc1389 |
0.332 |
|
| 2004 |
Altshuler JS, Altshuler D. Organizational challenges in clinical genomic research. Nature. 429: 478-81. PMID 15164075 DOI: 10.1038/nature02629 |
0.302 |
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| 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 |
0.438 |
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| 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 |
0.514 |
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| 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 |
0.607 |
|
| 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 |
0.626 |
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| 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 |
0.338 |
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| 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 |
0.533 |
|
| 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 |
0.571 |
|
| 2004 |
Florez JC, Burtt N, de Bakker PW, Almgren P, Tuomi T, Holmkvist J, Gaudet D, Hudson TJ, Schaffner SF, Daly MJ, Hirschhorn JN, Groop L, Altshuler D. 42 HAPLOTYPE STRUCTURE AND ASSOCIATION OF COMMON VARIANTS IN THE GENE ENCODING THE ISLET ATP-SENSITIVE POTASSIUM CHANNEL WITH TYPE 2 DIABETES. Journal of Investigative Medicine. 52: S384.2-S384. DOI: 10.1136/Jim-52-Suppl2-116 |
0.534 |
|
| 2004 |
Mootha VK, Daly MJ, Patterson N, Hirschhorn JN, Groop LC, Altshuler D. Reply to "Statistical concerns about the GSEA procedure" Nature Genetics. 36: 663-663. DOI: 10.1038/Ng0704-663B |
0.563 |
|
| 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 |
0.382 |
|
| 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 |
0.451 |
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| 2003 |
Memisoglu A, Hu FB, Hankinson SE, Liu S, Meigs JB, Altshuler DM, Hunter DJ, Manson JE. Prospective study of the association between the proline to alanine codon 12 polymorphism in the PPARgamma gene and type 2 diabetes. Diabetes Care. 26: 2915-7. PMID 14514601 DOI: 10.2337/DIACARE.26.10.2915 |
0.319 |
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| 2003 |
Rosand J, Altshuler D. Human genome sequence variation and the search for genes influencing stroke. Stroke; a Journal of Cerebral Circulation. 34: 2512-6. PMID 14500931 DOI: 10.1161/01.Str.0000091844.02111.07 |
0.367 |
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| 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 |
0.416 |
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| 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 |
0.44 |
|
| 2003 |
Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, Puigserver P, Carlsson E, Ridderstråle 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 |
0.705 |
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| 2003 |
Reich DE, Gabriel SB, Altshuler D. Quality and completeness of SNP databases. Nature Genetics. 33: 457-8. PMID 12652301 DOI: 10.1038/Ng1133 |
0.39 |
|
| 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 |
0.552 |
|
| 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 |
0.563 |
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| 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 |
0.382 |
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| 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 |
0.643 |
|
| 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 |
0.674 |
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| 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 |
0.438 |
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| 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 |
0.605 |
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| 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 |
0.65 |
|
| 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 |
0.568 |
|
| 2000 |
Altshuler D, Daly M, Kruglyak L. Guilt by association. Nature Genetics. 26: 135-7. PMID 11017062 DOI: 10.1038/79839 |
0.693 |
|
| 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 |
0.676 |
|
| 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 |
0.468 |
|
| 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 |
0.542 |
|
| 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 |
0.471 |
|
| 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 |
0.408 |
|
| 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 |
0.709 |
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