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
em Inglês
| MEDLINE | ID: mdl-33600428
2.
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
3.
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
Hum Genomics
; 14(1): 28, 2020 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32907636
4.
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
em Inglês
| MEDLINE | ID: mdl-33166031
5.
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.
J Med Genet
; 55(12): 847-852, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30007940
6.
Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.
Am J Med Genet A
; 173(4): 978-984, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328134
7.
Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis.
Front Genet
; 13: 933381, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36003331
8.
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
em Inglês
| MEDLINE | ID: mdl-35314707
9.
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
NPJ Genom Med
; 5(1): 37, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32963807
10.
Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis.
Front Genet
; 11: 620162, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33584815
11.
Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction.
Circ Genom Precis Med
; 13(6): e003000, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33196317
12.
Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism.
Int J Pediatr Endocrinol
; 2020: 13, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32670376
13.
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Mol Genet Genomic Med
; 8(5): e1205, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32154989
14.
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Mol Genet Genomic Med
; 8(7): e1229, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32352246
15.
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Lancet Reg Health West Pac
; 1: 100001, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34327338
16.
Cell lineage-specific genome-wide DNA methylation analysis of patients with paediatric-onset systemic lupus erythematosus.
Epigenetics
; 14(4): 341-351, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30806140
17.
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.
Parkinsonism Relat Disord
; 63: 42-45, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670339
18.
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy.
Epilepsia Open
; 4(1): 63-72, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30868116
19.
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
NPJ Genom Med
; 4: 18, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31396399
20.
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
NPJ Genom Med
; 3: 19, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30109123