Detalhe da pesquisa
1.
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Nature
; 518(7537): 102-6, 2015 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-25487149
2.
Searching for missing heritability: designing rare variant association studies.
Proc Natl Acad Sci U S A
; 111(4): E455-64, 2014 Jan 28.
Artigo
Inglês
| MEDLINE | ID: mdl-24443550
3.
The mystery of missing heritability: Genetic interactions create phantom heritability.
Proc Natl Acad Sci U S A
; 109(4): 1193-8, 2012 Jan 24.
Artigo
Inglês
| MEDLINE | ID: mdl-22223662
4.
Quantifying the underestimation of relative risks from genome-wide association studies.
PLoS Genet
; 7(3): e1001337, 2011 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-21437273
5.
Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.
J Pediatr
; 162(1): 202-4.e1, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22974575
6.
Disease model distortion in association studies.
Genet Epidemiol
; 35(4): 278-90, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21416505
7.
Isolated central hypothyroidism in young siblings as a manifestation of PROP1 deficiency: clinical impact of whole exome sequencing.
Horm Res Paediatr
; 79(6): 379-86, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23652424