Brian H Y Chung
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Explore the profile of Brian H Y Chung including associated specialties, affiliations and a list of published articles.
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74
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2234
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Recent Articles
11.
Mensah M, Niskanen H, Magalhaes A, Basu S, Kircher M, Sczakiel H, et al.
Nature
. 2023 Feb;
614(7948):564-571.
PMID: 36755093
Thousands of genetic variants in protein-coding genes have been linked to disease. However, the functional impact of most variants is unknown as they occur within intrinsically disordered protein regions that...
12.
Lee M, Kwong A, Chui M, Chau J, Mak C, Au S, et al.
NPJ Genom Med
. 2022 Dec;
7(1):74.
PMID: 36577754
RNA sequencing (RNA-seq) is emerging in genetic diagnoses as it provides functional support for the interpretation of variants of uncertain significance. However, the use of amniotic fluid (AF) cells for...
13.
Wong G, Hung Z, Ho K, Ling S, Fung J, Lee M, et al.
Pediatr Blood Cancer
. 2022 Dec;
70(4):e30157.
PMID: 36546314
No abstract available.
14.
Fu J, Satterstrom F, Peng M, Brand H, Collins R, Dong S, et al.
Nat Genet
. 2022 Aug;
54(9):1320-1331.
PMID: 35982160
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from joint analysis of protein-truncating variants...
15.
Ng Y, Ng N, Fung J, Lui A, Cheung N, Wong W, et al.
Value Health
. 2022 May;
25(9):1624-1633.
PMID: 35568675
Objectives: This study aimed to establish a normative profile of health-related quality of life (HRQOL) of the rare disease (RD) population in Hong Kong (HK) and identify potential predictors. Methods:...
16.
Yu P, Shu W, Mok S, Hui P, Chan L, Kwok K, et al.
Am J Med Genet A
. 2022 Feb;
188(5):1562-1567.
PMID: 35179302
Beckwith Wiedemann Syndrome (BWS, OMIM 130650) is an imprinting disorder that may present antenatally with a constellation of sonographic features namely polyhydramnios, macrosomia, macroglossia, omphalocele, placental mesenchymal dysplasia, cardiomegaly, nephromegaly,...
17.
Chung C, Fung J, Lui A, Chan M, Ng Y, Wong W, et al.
Sci Rep
. 2021 Dec;
11(1):23837.
PMID: 34903789
The measurement of costs is fundamental in healthcare decision-making, but it is often challenging. In particular, standardised methods have not been developed in the rare genetic disease population. A reliable...
18.
Chung C, Leung G, Mak C, Fung J, Lee M, Pei S, et al.
Lancet Reg Health West Pac
. 2021 Jul;
1:100001.
PMID: 34327338
Background: Rapid whole-exome sequencing (rWES) offers the potential for early diagnosis-predicated precision medicine. Previous evidence focused predominantly on infants from the intensive care unit (ICU). This study sought to examine...
19.
Velmans C, ODonnell-Luria A, Argilli E, Mau-Them F, Vitobello A, Chan M, et al.
J Med Genet
. 2021 Jul;
59(7):697-705.
PMID: 34321323
Background: O'Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, mostly truncating variants in . It was first described by O'Donnell-Luria in 2019 in a cohort of 38...
20.
Yu M, Fung J, Ng A, Li Z, Lan W, Chung C, et al.
Mol Genet Genomic Med
. 2021 May;
9(7):e1702.
PMID: 34002545
Purpose: The aim was to evaluate knowledge, attitudes, and clinical practice concerning medical genetics, genetic testing, and counseling among primary care physicians (PCPs) in Hong Kong and Shenzhen, China. Methods:...