Detalhe da pesquisa
1.
Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
Exp Dermatol
; 28(10): 1118-1121, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29364557
2.
Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.
Hum Mol Genet
; 24(1): 265-73, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25138779
3.
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Am J Hum Genet
; 92(6): 1001-7, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23731542
4.
Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility.
BMC Med Genet
; 17: 24, 2016 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27005825
5.
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.
BMC Urol
; 16(1): 62, 2016 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27769252
6.
Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.
BMC Musculoskelet Disord
; 17(1): 462, 2016 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27829420
7.
Rare variants at 16p11.2 are associated with common variable immunodeficiency.
J Allergy Clin Immunol
; 135(6): 1569-77, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25678086
8.
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.
Am J Hum Genet
; 90(3): 410-25, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22325160
9.
Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.
J Urol
; 193(5): 1637-45, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25390077
10.
Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.
Hum Reprod
; 30(10): 2439-51, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26209787
11.
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
Nature
; 459(7246): 528-33, 2009 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-19404256
12.
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Nature
; 459(7246): 569-73, 2009 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-19404257
13.
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis.
Hum Mol Genet
; 21(13): 2899-911, 2012 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22454397
14.
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.
Am J Hum Genet
; 88(1): 6-18, 2011 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21194676
15.
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
PLoS Genet
; 7(9): e1002293, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21980299
16.
A genome-wide study reveals copy number variants exclusive to childhood obesity cases.
Am J Hum Genet
; 87(5): 661-6, 2010 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20950786
17.
Variants of DENND1B associated with asthma in children.
N Engl J Med
; 362(1): 36-44, 2010 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-20032318
18.
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
Nature
; 448(7153): 591-4, 2007 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-17632545
19.
Strong synaptic transmission impact by copy number variations in schizophrenia.
Proc Natl Acad Sci U S A
; 107(23): 10584-9, 2010 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20489179
20.
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
Genome Res
; 19(9): 1682-90, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19592680