Detalhe da pesquisa
1.
Deviation from baseline mutation burden provides powerful and robust rare-variants association test for complex diseases.
Nucleic Acids Res
; 50(6): e34, 2022 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34931221
2.
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
PLoS Genet
; 17(2): e1009323, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33600428
3.
Whole-genome analysis of noncoding genetic variations identifies multiscale regulatory element perturbations associated with Hirschsprung disease.
Genome Res
; 30(11): 1618-1632, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32948616
4.
Assessing the safety of lipid-modifying medications among Chinese adolescents: a drug-target Mendelian randomization study.
BMC Med
; 21(1): 410, 2023 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37904165
5.
A polygenic risk score improves risk stratification of coronary artery disease: a large-scale prospective Chinese cohort study.
Eur Heart J
; 43(18): 1702-1711, 2022 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35195259
6.
Genetics of Hirschsprung's disease.
Pediatr Surg Int
; 39(1): 104, 2023 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36749416
7.
Current Understanding in the Clinical Characteristics and Molecular Mechanisms in Different Subtypes of Biliary Atresia.
Int J Mol Sci
; 23(9)2022 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563229
8.
Isogenic Human-Induced Pluripotent Stem-Cell-Derived Cardiomyocytes Reveal Activation of Wnt Signaling Pathways Underlying Intrinsic Cardiac Abnormalities in Rett Syndrome.
Int J Mol Sci
; 23(24)2022 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555252
9.
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data.
J Hum Genet
; 66(6): 637-641, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33223521
10.
Roles of Enteric Neural Stem Cell Niche and Enteric Nervous System Development in Hirschsprung Disease.
Int J Mol Sci
; 22(18)2021 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34575824
11.
Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development.
Gastroenterology
; 155(6): 1908-1922.e5, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30217742
12.
Whole-exome sequencing identifies MST1R as a genetic susceptibility gene in nasopharyngeal carcinoma.
Proc Natl Acad Sci U S A
; 113(12): 3317-22, 2016 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26951679
13.
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
Hum Mol Genet
; 25(23): 5265-5275, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27702942
14.
Actionable secondary findings from whole-genome sequencing of 954 East Asians.
Hum Genet
; 137(1): 31-37, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29128982
15.
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.
PLoS Genet
; 8(5): e1002687, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22589734
16.
Targeted next-generation sequencing on Hirschsprung disease: a pilot study exploits DNA pooling.
Ann Hum Genet
; 78(5): 381-7, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24947032
17.
Common genetic variants regulating ADD3 gene expression alter biliary atresia risk.
J Hepatol
; 59(6): 1285-91, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23872602
18.
Artificial intelligence-based approaches for the detection and prioritization of genomic mutations in congenital surgical diseases.
Front Pediatr
; 11: 1203289, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37593442
19.
Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.
Hum Mol Genet
; 19(14): 2917-25, 2010 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20460270
20.
Mutations in the NRG1 gene are associated with Hirschsprung disease.
Hum Genet
; 131(1): 67-76, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21706185