Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-33600428
2.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
J Med Genet
; 59(7): 697-705, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34321323
3.
Perception of personalized medicine, pharmacogenomics, and genetic testing among undergraduates in Hong Kong.
Hum Genomics
; 15(1): 54, 2021 08 18.
Artigo
Inglês
| MEDLINE | ID: mdl-34407885
4.
CTNNB1-related neurodevelopmental disorder in a Chinese population: A case series.
Am J Med Genet A
; 188(1): 130-137, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34558805
5.
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data.
J Hum Genet
; 66(6): 637-641, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-33223521
6.
Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.
Am J Med Genet A
; 185(2): 384-389, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33166031
7.
Mowat-Wilson syndrome in a Chinese population: A case series.
Am J Med Genet A
; 182(6): 1336-1341, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32196960
8.
Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong.
BMC Pregnancy Childbirth
; 20(1): 109, 2020 Feb 14.
Artigo
Inglês
| MEDLINE | ID: mdl-32059709
9.
Fibrodysplasia ossificans progressiva in Hong Kong-A case report series.
Front Pediatr
; 11: 1152731, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37181433
10.
Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis.
Front Genet
; 13: 933381, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36003331
11.
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
NPJ Genom Med
; 7(1): 23, 2022 Mar 21.
Artigo
Inglês
| MEDLINE | ID: mdl-35314707
12.
Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China.
Mol Genet Genomic Med
; 9(7): e1702, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34002545
13.
Exome sequencing in paediatric patients with movement disorders.
Orphanet J Rare Dis
; 16(1): 32, 2021 01 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33446253
14.
Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis.
Front Genet
; 11: 620162, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33584815
15.
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
NPJ Genom Med
; 4: 18, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31396399