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Items: 7

1.

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

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; NHLBI Exome Sequencing Project, Girelli D, Martinelli N, Farlow DN, DePristo MA, Roberts R, Stewart AF, Saleheen D, Danesh J, Epstein SE, Sivapalaratnam S, Hovingh GK, Kastelein JJ, Samani NJ, Schunkert H, Erdmann J, Shah SH, Kraus WE, Davies R, Nikpay M, Johansen CT, Wang J, Hegele RA, Hechter E, Marz W, Kleber ME, Huang J, Johnson AD, Li M, Burke GL, Gross M, Liu Y, Assimes TL, Heiss G, Lange EM, Folsom AR, Taylor HA, Olivieri O, Hamsten A, Clarke R, Reilly DF, Yin W, Rivas MA, Donnelly P, Rossouw JE, Psaty BM, Herrington DM, Wilson JG, Rich SS, Bamshad MJ, Tracy RP, Cupples LA, Rader DJ, Reilly MP, Spertus JA, Cresci S, Hartiala J, Tang WH, Hazen SL, Allayee H, Reiner AP, Carlson CS, Kooperberg C, Jackson RD, Boerwinkle E, Lander ES, Schwartz SM, Siscovick DS, McPherson R, Tybjaerg-Hansen A, Abecasis GR, Watkins H, Nickerson DA, Ardissino D, Sunyaev SR, O'Donnell CJ, Altshuler D, Gabriel S, Kathiresan S.

Nature. 2015 Feb 5;518(7537):102-6. doi: 10.1038/nature13917. Epub 2014 Dec 10.

2.

Searching for missing heritability: designing rare variant association studies.

Zuk O, Schaffner SF, Samocha K, Do R, Hechter E, Kathiresan S, Daly MJ, Neale BM, Sunyaev SR, Lander ES.

Proc Natl Acad Sci U S A. 2014 Jan 28;111(4):E455-64. doi: 10.1073/pnas.1322563111. Epub 2014 Jan 17.

3.

Isolated central hypothyroidism in young siblings as a manifestation of PROP1 deficiency: clinical impact of whole exome sequencing.

Wassner AJ, Cohen LE, Hechter E, Dauber A.

Horm Res Paediatr. 2013;79(6):379-86. doi: 10.1159/000350013. Epub 2013 May 3.

4.

Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.

Dauber A, Stoler J, Hechter E, Safer J, Hirschhorn JN.

J Pediatr. 2013 Jan;162(1):202-4.e1. doi: 10.1016/j.jpeds.2012.07.055. Epub 2012 Sep 10. Erratum in: J Pediatr. 2013 Jan;162(1):217.

5.

The mystery of missing heritability: Genetic interactions create phantom heritability.

Zuk O, Hechter E, Sunyaev SR, Lander ES.

Proc Natl Acad Sci U S A. 2012 Jan 24;109(4):1193-8. doi: 10.1073/pnas.1119675109. Epub 2012 Jan 5.

6.

Quantifying the underestimation of relative risks from genome-wide association studies.

Spencer C, Hechter E, Vukcevic D, Donnelly P.

PLoS Genet. 2011 Mar;7(3):e1001337. doi: 10.1371/journal.pgen.1001337. Epub 2011 Mar 17.

7.

Disease model distortion in association studies.

Vukcevic D, Hechter E, Spencer C, Donnelly P.

Genet Epidemiol. 2011 May;35(4):278-90. doi: 10.1002/gepi.20576. Epub 2011 Mar 17.

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