Detalhe da pesquisa
1.
Genetic regulation of human brain proteome reveals proteins implicated in psychiatric disorders.
Mol Psychiatry
; 2024 May 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38724566
2.
Direct reprogramming induces vascular regeneration post muscle ischemic injury.
Mol Ther
; 29(10): 3042-3058, 2021 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34332145
3.
Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS.
Am J Hum Genet
; 102(6): 1169-1184, 2018 06 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29805045
4.
HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.
Proc Natl Acad Sci U S A
; 112(52): 15970-5, 2015 Dec 29.
Artigo
Inglês
| MEDLINE | ID: mdl-26598658
5.
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Am J Hum Genet
; 94(5): 677-94, 2014 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24768552
6.
Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.
Ann Rheum Dis
; 76(5): 906-913, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-27927641
7.
De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.
Am J Med Genet A
; 173(6): 1656-1662, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28407363
8.
Identification of novel genetic causes of Rett syndrome-like phenotypes.
J Med Genet
; 53(3): 190-9, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26740508
9.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS Genet
; 10(9): e1004580, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25188300
10.
Origins and functional impact of copy number variation in the human genome.
Nature
; 464(7289): 704-12, 2010 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-19812545
11.
Functional impact of global rare copy number variation in autism spectrum disorders.
Nature
; 466(7304): 368-72, 2010 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-20531469
12.
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
J Med Genet
; 52(11): 738-48, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26342108
13.
Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.
PLoS Genet
; 9(6): e1003523, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23754953
14.
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Hum Mutat
; 36(9): 842-50, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26010655
15.
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Am J Hum Genet
; 90(1): 133-41, 2012 Jan 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22209245
16.
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Am J Hum Genet
; 90(5): 879-87, 2012 May 04.
Artigo
Inglês
| MEDLINE | ID: mdl-22503632
17.
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
PLoS Genet
; 8(2): e1002521, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22346768
18.
Individual common variants exert weak effects on the risk for autism spectrum disorders.
Hum Mol Genet
; 21(21): 4781-92, 2012 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22843504
19.
A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes.
Genome Res
; 21(3): 465-76, 2011 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-21324877
20.
Transcriptomic landscape of human induced pluripotent stem cell-derived osteogenic differentiation identifies a regulatory role of KLF16.
bioRxiv
; 2024 Feb 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38405902