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Items: 31

1.

Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms.

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, Carr SA, Wagner BK, Schenone M, Ng MCY, Chen BH; MEDIA Consortium; SIGMA T2D Consortium, Centeno-Cruz F, Zerrweck C, Orozco L, Altshuler DM, Schreiber SL, Florez JC, Jacobs SBR, Lander ES.

Cell. 2017 Jun 29;170(1):199-212.e20. doi: 10.1016/j.cell.2017.06.011.

2.

Analysis of protein-coding genetic variation in 60,706 humans.

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, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium.

Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.

3.

A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans.

Clapham KR, Chu AY, Wessel J, Natarajan P, Flannick J, Rivas MA, Sartori S, Mehran R, Baber U, Fuster V, Scott RA, Rader DJ, Boehnke M, McCarthy MI, Altshuler DM, Kathiresan S, Peloso GM.

BMC Endocr Disord. 2016 Jan 28;16:7. doi: 10.1186/s12902-016-0088-8.

4.

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.

Usher CL, Handsaker RE, Esko T, Tuke MA, Weedon MN, Hastie AR, Cao H, Moon JE, Kashin S, Fuchsberger C, Metspalu A, Pato CN, Pato MT, McCarthy MI, Boehnke M, Altshuler DM, Frayling TM, Hirschhorn JN, McCarroll SA.

Nat Genet. 2015 Aug;47(8):921-5. doi: 10.1038/ng.3340. Epub 2015 Jun 22.

5.

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

Roberts AM, Ware JS, Herman DS, Schafer S, Baksi J, Bick AG, Buchan RJ, Walsh R, John S, Wilkinson S, Mazzarotto F, Felkin LE, Gong S, MacArthur JA, Cunningham F, Flannick J, Gabriel SB, Altshuler DM, Macdonald PS, Heinig M, Keogh AM, Hayward CS, Banner NR, Pennell DJ, O'Regan DP, San TR, de Marvao A, Dawes TJ, Gulati A, Birks EJ, Yacoub MH, Radke M, Gotthardt M, Wilson JG, O'Donnell CJ, Prasad SK, Barton PJ, Fatkin D, Hubner N, Seidman JG, Seidman CE, Cook SA.

Sci Transl Med. 2015 Jan 14;7(270):270ra6. doi: 10.1126/scitranslmed.3010134.

6.

A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.

Lim ET, Liu YP, Chan Y, Tiinamaija T, Käräjämäki A, Madsen E; Go-T2D Consortium, Altshuler DM, Raychaudhuri S, Groop L, Flannick J, Hirschhorn JN, Katsanis N, Daly MJ.

Am J Hum Genet. 2014 Nov 6;95(5):509-20. doi: 10.1016/j.ajhg.2014.09.015. Epub 2014 Oct 16.

7.

Distribution and medical impact of loss-of-function variants in the Finnish founder population.

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, Manning A, Ladenvall C, Bumpstead S, Hämäläinen E, Aalto K, Maksimow M, Salmi M, Blankenberg S, Ardissino D, Shah S, Horne B, McPherson R, Hovingh GK, Reilly MP, Watkins H, Goel A, Farrall M, Girelli D, Reiner AP, Stitziel NO, Kathiresan S, Gabriel S, Barrett JC, Lehtimäki T, Laakso M, Groop L, Kaprio J, Perola M, McCarthy MI, Boehnke M, Altshuler DM, Lindgren CM, Hirschhorn JN, Metspalu A, Freimer NB, Zeller T, Jalkanen S, Koskinen S, Raitakari O, Durbin R, MacArthur DG, Salomaa V, Ripatti S, Daly MJ, Palotie A; Sequencing Initiative Suomi (SISu) Project.

PLoS Genet. 2014 Jul 31;10(7):e1004494. doi: 10.1371/journal.pgen.1004494. eCollection 2014 Jul.

8.

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants.

Ito K, Bick AG, Flannick J, Friedman DJ, Genovese G, Parfenov MG, Depalma SR, Gupta N, Gabriel SB, Taylor HA Jr, Fox ER, Newton-Cheh C, Kathiresan S, Hirschhorn JN, Altshuler DM, Pollak MR, Wilson JG, Seidman JG, Seidman C.

Circ Res. 2014 Feb 28;114(5):845-50. doi: 10.1161/CIRCRESAHA.114.302347. Epub 2013 Dec 30.

9.

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

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, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, dePristo M, Altshuler DM, Purcell SM; NHLBI Exome Sequencing Project, State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ.

Neuron. 2013 Jan 23;77(2):235-42. doi: 10.1016/j.neuron.2012.12.029.

10.

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.

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 Jr, Fox ER, Newton-Cheh C, Kathiresan S, O'Donnell CJ, Wilson JG, Altshuler DM, Hirschhorn JN, Seidman JG, Seidman C.

Am J Hum Genet. 2012 Sep 7;91(3):513-9. doi: 10.1016/j.ajhg.2012.07.017.

11.

DASH: a method for identical-by-descent haplotype mapping uncovers association with recent variation.

Gusev A, Kenny EE, Lowe JK, Salit J, Saxena R, Kathiresan S, Altshuler DM, Friedman JM, Breslow JL, Pe'er I.

Am J Hum Genet. 2011 Jun 10;88(6):706-717. doi: 10.1016/j.ajhg.2011.04.023. Epub 2011 May 27.

12.

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.

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, Healey S, Sinilnikova OM, Mai PL, Greene MH, Piedmonte M, Rubinstein WS; HEBON, Hogervorst FB, Rookus MA, Collée JM, Hoogerbrugge N, van Asperen CJ, Meijers-Heijboer HE, Van Roozendaal CE, Caldes T, Perez-Segura P, Jakubowska A, Lubinski J, Huzarski T, Blecharz P, Nevanlinna H, Aittomäki K, Lazaro C, Blanco I, Barkardottir RB, Montagna M, D'Andrea E; kConFab, Devilee P, Olopade OI, Neuhausen SL, Peissel B, Bonanni B, Peterlongo P, Singer CF, Rennert G, Lejbkowicz F, Andrulis IL, Glendon G, Ozcelik H; Ontario Cancer Genetics Network, Toland AE, Caligo MA; SWE-BRCA, Beattie MS, Chan S; UKFOCR, Domchek SM, Nathanson KL, Rebbeck TR, Phelan C, Narod S, John EM, Hopper JL, Buys SS, Daly MB, Southey MC, Terry MB, Tung N, Hansen TV, Osorio A, Benitez J, Durán M, Weitzel JN, Garber J, Hamann U; EMBRACE, Peock S, Cook M, Oliver CT, Frost D, Platte R, Evans DG, Eeles R, Izatt L, Paterson J, Brewer C, Hodgson S, Morrison PJ, Porteous M, Walker L, Rogers MT, Side LE, Godwin AK, Schmutzler RK, Wappenschmidt B, Laitman Y, Meindl A, Deissler H, Varon-Mateeva R, Preisler-Adams S, Kast K, Venat-Bouvet L, Stoppa-Lyonnet D, Chenevix-Trench G, Easton DF, Klein RJ, Daly MJ, Friedman E, Dean M, Clark AG, Altshuler DM, Antoniou AC, Couch FJ, Offit K, Gold B.

Hum Genet. 2011 Nov;130(5):685-99. doi: 10.1007/s00439-011-1003-z. Epub 2011 May 20.

13.

Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population.

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, Pe'er I.

Hum Mol Genet. 2011 Feb 15;20(4):827-39. doi: 10.1093/hmg/ddq510. Epub 2010 Nov 30.

14.

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.

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, Gauthier-Villars M, Sobol H, Longy M, Frenay M, GEMO Study Collaborators, Hogervorst FB, Rookus MA, Collée JM, Hoogerbrugge N, van Roozendaal KE; HEBON Study Collaborators, Piedmonte M, Rubinstein W, Nerenstone S, Van Le L, Blank SV, Caldés T, de la Hoya M, Nevanlinna H, Aittomäki K, Lazaro C, Blanco I, Arason A, Johannsson OT, Barkardottir RB, Devilee P, Olopade OI, Neuhausen SL, Wang X, Fredericksen ZS, Peterlongo P, Manoukian S, Barile M, Viel A, Radice P, Phelan CM, Narod S, Rennert G, Lejbkowicz F, Flugelman A, Andrulis IL, Glendon G, Ozcelik H; OCGN, Toland AE, Montagna M, D'Andrea E, Friedman E, Laitman Y, Borg A, Beattie M, Ramus SJ, Domchek SM, Nathanson KL, Rebbeck T, Spurdle AB, Chen X, Holland H; kConFab, John EM, Hopper JL, Buys SS, Daly MB, Southey MC, Terry MB, Tung N, Overeem Hansen TV, Nielsen FC, Greene MH, Mai PL, Osorio A, Durán M, Andres R, Benítez J, Weitzel JN, Garber J, Hamann U; EMBRACE, Peock S, Cook M, Oliver C, Frost D, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Walker L, Eason J, Barwell J, Godwin AK, Schmutzler RK, Wappenschmidt B, Engert S, Arnold N, Gadzicki D, Dean M, Gold B, Klein RJ, Couch FJ, Chenevix-Trench G, Easton DF, Daly MJ, Antoniou AC, Altshuler DM, Offit K.

PLoS Genet. 2010 Oct 28;6(10):e1001183. doi: 10.1371/journal.pgen.1001183. Erratum in: PLoS Genet. 2010;6(11). doi: 10.1371/annotation/59ea8540-4e63-4f4a-a79e-f68765fdeac7. Greene, Mark I [corrected to Greene, Mark H]. PLoS Genet. 2010;6(11). doi: 10.1371/annotation/b28cf02d-7196-4a16-8b36-6562a0b84f75. EMBRACE [added].

15.

Integrating common and rare genetic variation in diverse human populations.

International HapMap 3 Consortium, 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, de Bakker PI, Deloukas P, Gabriel SB, Gwilliam R, Hunt S, Inouye M, Jia X, Palotie A, Parkin M, Whittaker P, Yu F, Chang K, Hawes A, Lewis LR, Ren Y, Wheeler D, Gibbs RA, Muzny DM, Barnes C, Darvishi K, Hurles M, Korn JM, Kristiansson K, Lee C, McCarrol SA, Nemesh J, Dermitzakis E, Keinan A, Montgomery SB, Pollack S, Price AL, Soranzo N, Bonnen PE, Gibbs RA, Gonzaga-Jauregui C, Keinan A, Price AL, Yu F, Anttila V, Brodeur W, Daly MJ, Leslie S, McVean G, Moutsianas L, Nguyen H, Schaffner SF, Zhang Q, Ghori MJ, McGinnis R, McLaren W, Pollack S, Price AL, Schaffner SF, Takeuchi F, Grossman SR, Shlyakhter I, Hostetter EB, Sabeti PC, Adebamowo CA, Foster MW, Gordon DR, Licinio J, Manca MC, Marshall PA, Matsuda I, Ngare D, Wang VO, Reddy D, Rotimi CN, Royal CD, Sharp RR, Zeng C, Brooks LD, McEwen JE.

Nature. 2010 Sep 2;467(7311):52-8. doi: 10.1038/nature09298.

16.

Genetic association analysis of LARS2 with type 2 diabetes.

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, Morris AD, Doney AS, Palmer CN, Guiducci C, Hattersley AT, Frayling TM, Pedersen O, Slagboom PE, Altshuler DM, Groop L, Romijn JA, Maassen JA, Hofker MH, Dekker JM, McCarthy MI, 't Hart LM.

Diabetologia. 2010 Jan;53(1):103-10. doi: 10.1007/s00125-009-1557-7. Epub 2009 Oct 22.

17.

European admixture on the Micronesian island of Kosrae: lessons from complete genetic information.

Bonnen PE, Lowe JK, Altshuler DM, Breslow JL, Stoffel M, Friedman JM, Pe'er I.

Eur J Hum Genet. 2010 Mar;18(3):309-16. doi: 10.1038/ejhg.2009.180. Epub 2009 Oct 21.

18.

Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae.

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.

Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13886-91. doi: 10.1073/pnas.0907336106. Epub 2009 Aug 10.

19.

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck Mde L, Artunduaga MA, Eavey RD, Plenge RM, Shadick NA, Weinblatt ME, De Jager PL, Hafler DA, Breitbart RE, Seidman JG, Seidman CE.

Nat Genet. 2009 Aug;41(8):931-5. doi: 10.1038/ng.415. Epub 2009 Jul 13.

20.

Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.

Smith JG, Lowe JK, Kovvali S, Maller JB, Salit J, Daly MJ, Stoffel M, Altshuler DM, Friedman JM, Breslow JL, Newton-Cheh C.

Heart Rhythm. 2009 May;6(5):634-41. doi: 10.1016/j.hrthm.2009.02.022. Epub 2009 Feb 15.

21.

Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.

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, Sullivan ML, Lee HE, Labek A, Ferdowsian H, Auerbach SB, Lifton RP, Newton-Cheh C, Breslow JL, Stoffel M, Daly MJ, Altshuler DM, Friedman JM.

PLoS Genet. 2009 Feb;5(2):e1000365. doi: 10.1371/journal.pgen.1000365. Epub 2009 Feb 6.

22.

A novel polymorphism of the human CD40 receptor with enhanced function.

Peters AL, Plenge RM, Graham RR, Altshuler DM, Moser KL, Gaffney PM, Bishop GA.

Blood. 2008 Sep 1;112(5):1863-71. doi: 10.1182/blood-2008-02-138925. Epub 2008 Jun 30.

23.

Polymorphisms associated with cholesterol and risk of cardiovascular events.

Kathiresan S, Melander O, Anevski D, Guiducci C, Burtt NP, Roos C, Hirschhorn JN, Berglund G, Hedblad B, Groop L, Altshuler DM, Newton-Cheh C, Orho-Melander M.

N Engl J Med. 2008 Mar 20;358(12):1240-9. doi: 10.1056/NEJMoa0706728.

24.

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

Kathiresan S, Melander O, Guiducci C, Surti A, Burtt NP, Rieder MJ, Cooper GM, Roos C, Voight BF, Havulinna AS, Wahlstrand B, Hedner T, Corella D, Tai ES, Ordovas JM, Berglund G, Vartiainen E, Jousilahti P, Hedblad B, Taskinen MR, Newton-Cheh C, Salomaa V, Peltonen L, Groop L, Altshuler DM, Orho-Melander M.

Nat Genet. 2008 Feb;40(2):189-97. doi: 10.1038/ng.75. Epub 2008 Jan 13. Erratum in: Nat Genet. 2008 Nov;40(11):1384.

25.

Challenges and standards in integrating surveys of structural variation.

Scherer SW, Lee C, Birney E, Altshuler DM, Eichler EE, Carter NP, Hurles ME, Feuk L.

Nat Genet. 2007 Jul;39(7 Suppl):S7-15. Review.

26.

Copy-number variation and association studies of human disease.

McCarroll SA, Altshuler DM.

Nat Genet. 2007 Jul;39(7 Suppl):S37-42. Review.

PMID:
17597780
27.

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome.

Locke DP, Sharp AJ, McCarroll SA, McGrath SD, Newman TL, Cheng Z, Schwartz S, Albertson DG, Pinkel D, Altshuler DM, Eichler EE.

Am J Hum Genet. 2006 Aug;79(2):275-90. Epub 2006 Jun 15.

28.

Copy number variation: new insights in genome diversity.

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.

Genome Res. 2006 Aug;16(8):949-61. Epub 2006 Jun 29. Review.

29.

Biases and reconciliation in estimates of linkage disequilibrium in the human genome.

Pe'er I, Chretien YR, de Bakker PI, Barrett JC, Daly MJ, Altshuler DM.

Am J Hum Genet. 2006 Apr;78(4):588-603. Epub 2006 Mar 1.

30.

Common deletion polymorphisms in the human genome.

McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, Barrett JC, Dallaire S, Gabriel SB, Lee C, Daly MJ, Altshuler DM; International HapMap Consortium.

Nat Genet. 2006 Jan;38(1):86-92.

PMID:
16468122
31.

Prospective study of the association between the proline to alanine codon 12 polymorphism in the PPARgamma gene and type 2 diabetes.

Memisoglu A, Hu FB, Hankinson SE, Liu S, Meigs JB, Altshuler DM, Hunter DJ, Manson JE.

Diabetes Care. 2003 Oct;26(10):2915-7.

PMID:
14514601

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