Detalhe da pesquisa
1.
CHARR efficiently estimates contamination from DNA sequencing data.
Am J Hum Genet
; 110(12): 2068-2076, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38000370
2.
Evolution of Osteocrin as an activity-regulated factor in the primate brain.
Nature
; 539(7628): 242-247, 2016 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27830782
3.
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.
Am J Med Genet B Neuropsychiatr Genet
; 177(8): 736-745, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30421579
4.
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
Am J Hum Genet
; 91(3): 541-7, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22958903
5.
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
PLoS Genet
; 8(4): e1002635, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22511880
6.
CHARR efficiently estimates contamination from DNA sequencing data.
bioRxiv
; 2023 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37425834
7.
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Nat Genet
; 54(9): 1320-1331, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35982160
8.
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility.
Nat Genet
; 54(9): 1275-1283, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36038634
9.
Defining the role of the MHC in autoimmunity: a review and pooled analysis.
PLoS Genet
; 4(4): e1000024, 2008 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-18437207
10.
Identification of two independent risk factors for lupus within the MHC in United Kingdom families.
PLoS Genet
; 3(11): e192, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17997607
11.
SMAD3 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease.
J Crohns Colitis
; 8(8): 845-51, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24461721
12.
Using whole-exome sequencing to identify inherited causes of autism.
Neuron
; 77(2): 259-73, 2013 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-23352163
13.
Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
Nat Genet
; 42(4): 332-7, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20228799
14.
Established genetic risk factors do not distinguish early and later onset Crohn's disease.
Inflamm Bowel Dis
; 15(10): 1508-14, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19322901