Detalhe da pesquisa
1.
Focused goodness of fit tests for gene set analyses.
Brief Bioinform
; 23(1)2022 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34849577
2.
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.
Mol Psychiatry
; 27(3): 1435-1447, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34799694
3.
A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.
Genome Res
; 29(5): 809-818, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30940688
4.
Incorporating external information to improve sparse signal detection in rare-variant gene-set-based analyses.
Genet Epidemiol
; 44(4): 330-338, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043633
5.
Exome-Based Rare-Variant Analyses in CKD.
J Am Soc Nephrol
; 30(6): 1109-1122, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31085678
6.
Enhancer methylation dynamics contribute to cancer plasticity and patient mortality.
Genome Res
; 26(5): 601-11, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26907635
7.
Inhibition of microRNA 128 promotes excitability of cultured cortical neuronal networks.
Genome Res
; 26(10): 1411-1416, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27516621
8.
meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays.
PLoS Comput Biol
; 14(10): e1006506, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30273353
9.
DNA-methylation effect on cotranscriptional splicing is dependent on GC architecture of the exon-intron structure.
Genome Res
; 23(5): 789-99, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23502848
10.
Changes in exon-intron structure during vertebrate evolution affect the splicing pattern of exons.
Genome Res
; 22(1): 35-50, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21974994
11.
Testing for natural selection in human exonic splicing regulators associated with evolutionary rate shifts.
J Mol Evol
; 76(4): 228-39, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23529588
12.
Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor.
Front Cell Neurosci
; 17: 1175895, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37275776
13.
A large meta-analysis identifies genes associated with anterior uveitis.
Nat Commun
; 14(1): 7300, 2023 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37949852
14.
Rare coding variants in CHRNB2 reduce the likelihood of smoking.
Nat Genet
; 55(7): 1138-1148, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308787
15.
A deep catalog of protein-coding variation in 985,830 individuals.
bioRxiv
; 2023 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37214792
16.
Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82.
Nat Commun
; 13(1): 800, 2022 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35145093
17.
ERAP1, ERAP2, and Two Copies of HLA-Aw19 Alleles Increase the Risk for Birdshot Chorioretinopathy in HLA-A29 Carriers.
Invest Ophthalmol Vis Sci
; 62(14): 3, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34727153
18.
Annotating pathogenic non-coding variants in genic regions.
Nat Commun
; 8(1): 236, 2017 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28794409
19.
HP1 is involved in regulating the global impact of DNA methylation on alternative splicing.
Cell Rep
; 10(7): 1122-34, 2015 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25704815
20.
Differential GC content between exons and introns establishes distinct strategies of splice-site recognition.
Cell Rep
; 1(5): 543-56, 2012 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-22832277