Detalhe da pesquisa
1.
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
Am J Hum Genet
; 94(2): 295-302, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462371
2.
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
Am J Hum Genet
; 94(4): 618-24, 2014 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24680889
3.
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Am J Hum Genet
; 94(6): 915-23, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906020
4.
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Hum Mutat
; 36(12): 1197-204, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26350204
5.
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
Nat Commun
; 6: 8019, 2015 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26394269
6.
Using ancestry-informative markers to identify fine structure across 15 populations of European origin.
Eur J Hum Genet
; 22(10): 1190-200, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24549058
7.
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
Nat Genet
; 43(4): 329-32, 2011 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21399635
8.
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Nat Genet
; 43(3): 246-52, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21297633