Detalhe da pesquisa
1.
FTO genotype is associated with phenotypic variability of body mass index.
Nature
; 490(7419): 267-72, 2012 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22982992
2.
Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland.
Am J Hum Genet
; 94(5): 710-20, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24768551
3.
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.
Am J Hum Genet
; 94(3): 437-52, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24607388
4.
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect.
Hum Mol Genet
; 23(11): 2880-7, 2014 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24403049
5.
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.
Hum Mutat
; 36(4): 474-81, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25703509
6.
Technical Validation of a Next-Generation Sequencing Assay for Detecting Actionable Mutations in Patients with Gastrointestinal Cancer.
J Mol Diagn
; 18(3): 416-424, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26970585
7.
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape.
Nat Commun
; 7: 13357, 2016 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27876822
8.
Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.
J Clin Endocrinol Metab
; 98(8): E1428-37, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23771920