Detalhe da pesquisa
1.
Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium.
Am J Hum Genet
; 91(3): 422-34, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22939045
2.
Using ERDS to infer copy-number variants in high-coverage genomes.
Am J Hum Genet
; 91(3): 408-21, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22939633
3.
Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.
Am J Hum Genet
; 91(2): 303-12, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22863191
4.
Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.
Am J Hum Genet
; 91(2): 293-302, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22863189
5.
A genome-wide comparison of the functional properties of rare and common genetic variants in humans.
Am J Hum Genet
; 88(4): 458-68, 2011 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21457907
6.
Leveraging prior information to detect causal variants via multi-variant regression.
PLoS Comput Biol
; 9(6): e1003093, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23762022
7.
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
Am J Hum Genet
; 86(5): 707-18, 2010 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20398883
8.
Diversification in the genetic architecture of gene expression and transcriptional networks in organ differentiation of Populus.
Proc Natl Acad Sci U S A
; 107(18): 8492-7, 2010 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-20404162
9.
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.
PLoS Genet
; 6(6): e1000991, 2010 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-20577567
10.
The characterization of twenty sequenced human genomes.
PLoS Genet
; 6(9): e1001111, 2010 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20838461
11.
SVA: software for annotating and visualizing sequenced human genomes.
Bioinformatics
; 27(14): 1998-2000, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21624899
12.
A whole-genome analysis of premature termination codons.
Genomics
; 98(5): 337-42, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21803148
13.
A genome-wide screen for variants influencing certolizumab pegol response in a moderate to severe rheumatoid arthritis population.
PLoS One
; 17(4): e0261165, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35413058
14.
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
Hum Mol Genet
; 18(23): 4650-61, 2009 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19734545
15.
Tissue-specific genetic control of splicing: implications for the study of complex traits.
PLoS Biol
; 6(12): e1, 2008 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-19222302
16.
Host determinants of HIV-1 control in African Americans.
J Infect Dis
; 201(8): 1141-9, 2010 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20205591
17.
Evaluating whole genome sequence data from the Genetic Absence Epilepsy Rat from Strasbourg and its related non-epileptic strain.
PLoS One
; 12(7): e0179924, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28708842
18.
Screening the human exome: a comparison of whole genome and whole transcriptome sequencing.
Genome Biol
; 11(5): R57, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20598109