Detalhe da pesquisa
1.
Rare-variant collapsing analyses for complex traits: guidelines and applications.
Nat Rev Genet
; 20(12): 747-759, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31605095
2.
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
PLoS Genet
; 18(11): e1010367, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36327219
3.
Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes.
J Am Soc Nephrol
; 34(5): 909-919, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36758113
4.
Causal Genetic Variants in Stillbirth.
N Engl J Med
; 383(12): 1107-1116, 2020 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32786180
5.
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
6.
Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis.
Am J Respir Crit Care Med
; 206(1): 56-69, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35417304
7.
Prevalence and significance of clonal hematopoiesis of indeterminate potential in lung transplant recipients.
BMC Pulm Med
; 23(1): 414, 2023 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37904125
8.
Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.
Eur Respir J
; 60(6)2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36028256
9.
ATAV: a comprehensive platform for population-scale genomic analyses.
BMC Bioinformatics
; 22(1): 149, 2021 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33757430
10.
Family reunion via error correction: an efficient analysis of duplex sequencing data.
BMC Bioinformatics
; 21(1): 96, 2020 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32131723
11.
Further delineation of putative ACTB loss-of-function variants: A 4-patient series.
Hum Mutat
; 41(4): 753-758, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898838
12.
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Hum Mutat
; 41(3): 655-667, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31705726
13.
Exome-Based Rare-Variant Analyses in CKD.
J Am Soc Nephrol
; 30(6): 1109-1122, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31085678
14.
Rectified factor networks for biclustering of omics data.
Bioinformatics
; 33(14): i59-i66, 2017 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28881961
15.
Genome-wide Enrichment of TERT Rare Variants in Idiopathic Pulmonary Fibrosis Patients of Latino Ancestry.
Am J Respir Crit Care Med
; 206(7): 903-905, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35666822
16.
panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.
Hum Mutat
; 38(7): 889-897, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28449315
17.
Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing.
Schizophr Res
; 252: 138-145, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645932
18.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
medRxiv
; 2023 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873269
19.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Res Sq
; 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196621
20.
Increased yields of duplex sequencing data by a series of quality control tools.
NAR Genom Bioinform
; 3(1): lqab002, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33575654