J. Fung

发表

B. Chung, H. Luk, C. Chow, 2021, American journal of medical genetics. Part A.

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

R. Rodenburg, B. Chung, J. Smeitink, 2020, Human genomics.

Exome sequencing in paediatric patients with movement disorders

M. Lek, R. Rodenburg, S. Pajusalu, 2020, Orphanet Journal of Rare Diseases.

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs

Y. Lau, B. Chung, M. Chan, 2020, The Lancet regional health. Western Pacific.

Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis

Y. Lau, B. Chung, M. Yu, 2022, Frontiers in Genetics.

Evaluating the Health-Related Quality of Life of the Rare Disease Population in Hong Kong Using EQ-5D 3-Level.

B. Chung, S. L. Lee, W. Wong, 2022, Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research.

Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic

B. Chung, C. Mak, M. Tsang, 2022, Clinical dysmorphology.

Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis

K. Y. Chan, A. Kan, B. Chung, 2021, Frontiers in Genetics.

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Y. Chien, W. Hwu, R. Rodenburg, 2019, npj Genomic Medicine.

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome

B. Chung, C. C. Mak, H. Luk, 2019, American journal of medical genetics. Part A.

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

A. O’Donnell-Luria, N. Chassaing, C. Schaaf, 2021, Journal of Medical Genetics.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese

P. Tam, X. Zhuang, Y. Lau, 2022, NPJ genomic medicine.

Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review

B. Chung, S. Ling, Mianne Lee, 2022, Pediatric blood & cancer.

Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population

P. Tam, Y. Lau, B. Chung, 2021, PLoS genetics.

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

A. Kan, B. Chung, K. Leung, 2020, Molecular genetics & genomic medicine.

Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China

Y. Liu, B. Chung, W. Wong, 2021, Molecular genetics & genomic medicine.

Perception of personalized medicine, pharmacogenomics, and genetic testing among undergraduates in Hong Kong

B. Chung, W. Wong, C. Mak, 2021, Human genomics.

Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data

P. Tam, Y. Lau, B. Chung, 2020, Journal of Human Genetics.

Mowat–Wilson syndrome in a Chinese population: A case series

B. Chung, H. Luk, I. Lo, 2020, American journal of medical genetics. Part A.

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Y. Chien, W. Hwu, R. Rodenburg, 2019, npj Genomic Medicine.

Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra)

B. Chung, S. L. Lee, M. Knapp, 2021, Scientific Reports.

Rubinstein–Taybi syndrome in diverse populations

Yonit A. Addissie, R. Stevenson, N. Brunetti‐Pierri, 2020, American journal of medical genetics. Part A.

Further expanding the clinical phenotype in Bainbridge-Ropers Syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.

B. Chung, H. Luk, K. P. Yu, 2020, European Journal of Medical Genetics.

Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong

K. Y. Chan, A. Kan, B. Chung, 2020, BMC Pregnancy and Childbirth.

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

P. Sham, K. Y. Chan, A. Kan, 2018, BMC Medical Genomics.

Fibrodysplasia ossificans progressiva in Hong Kong—A case report series

B. Chung, H. Luk, E. Kuong, 2023, Frontiers in Pediatrics.

Clinical and molecular features of pleuropulmonary blastoma in children in Hong Kong: case reports.

B. Chung, M. Tsang, G. Chan, 2022, Hong Kong medical journal = Xianggang yi xue za zhi.

Coffin–Lowry syndrome in Chinese

B. Chung, H. Luk, I. Lo, 2019, American journal of medical genetics. Part A.

A case of G1013R FBN1 mutation: A potential genotype–phenotype correlation in severe Marfan syndrome

Peter Hui, B. Chung, R. Wong, 2020, American journal of medical genetics. Part A.