Detalhe da pesquisa
1.
Corrigendum: Landscape of X chromosome inactivation across human tissues.
Nature
; 555(7695): 274, 2018 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29517003
2.
Landscape of X chromosome inactivation across human tissues.
Nature
; 550(7675): 244-248, 2017 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29022598
3.
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.
Am J Hum Genet
; 102(6): 1204-1211, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861106
4.
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
J Med Genet
; 54(9): 598-606, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28756411
5.
Likelihood-based complex trait association testing for arbitrary depth sequencing data.
Bioinformatics
; 31(18): 2955-62, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25979475
6.
The value of statistical or bioinformatics annotation for rare variant association with quantitative trait.
Genet Epidemiol
; 37(7): 666-74, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23836599
7.
To identify associations with rare variants, just WHaIT: Weighted haplotype and imputation-based tests.
Am J Hum Genet
; 87(5): 728-35, 2010 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21055717
8.
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Nat Neurosci
; 23(2): 295, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31857710
9.
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Nat Neurosci
; 22(12): 1966-1974, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31768050
10.
SynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse.
Neuron
; 103(2): 217-234.e4, 2019 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31171447
11.
Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.
Nat Genet
; 50(4): 621-629, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29632380
12.
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.
Nat Neurosci
; 19(12): 1563-1565, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27694993
13.
Gene expression in peripheral blood leukocytes in monozygotic twins discordant for chronic fatigue: no evidence of a biomarker.
PLoS One
; 4(6): e5805, 2009 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-19503787