C. C. Mak

发表

22q11.2 deletion syndrome in diverse populations

A. R. Porras, Yonit A. Addissie, E. Zackai, 2017, American journal of medical genetics. Part A.

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

M. Lek, S. Pajusalu, B. Chung, 2020, npj Genomic Medicine.

Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong

S. Lam, B. Chung, C. C. Mak, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Understanding and perception of direct‐to‐consumer genetic testing in Hong Kong

B. Chung, K. Lau, C. C. Mak, 2021, Journal of genetic counseling.

Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

R. Pfundt, M. Reijnders, S. Küry, 2018, Clinical genetics.

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.

Title De novo large rare copy-number variations contribute toconotruncal heart disease in Chinese patients

S. Scherer, B. Chung, C. Marshall, 2016 .

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.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

A. Hoischen, T. Meitinger, T. Strom, 2017, American Journal of Human Genetics.

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.

Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept

Vicente A. Yépez, J. Gagneur, A. Kan, 2022, npj Genomic Medicine.

De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients

S. Scherer, B. Chung, C. Marshall, 2016, npj Genomic Medicine.

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies

J. Allanson, A. C. Ma, K. Y. Chan, 2018, Scientific Reports.

Mutations in ATP 6 V 1 E 1 or ATP 6 V 1 A Cause Autosomal-Recessive Cutis Laxa

A. Hoischen, T. Meitinger, T. Strom, 2016 .

Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses.

P. Chow, B. Chung, M. Yu, 2023, Journal of the American Heart Association.

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies

J. Allanson, A. C. Ma, K. Y. Chan, 2018, Scientific Reports.

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

J. Rosenfeld, I. Scheffer, S. Nelson, 2019, Human mutation.

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey

R. Pfundt, B. Chung, Y. Lau, 2018, npj Genomic Medicine.

Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients

F. Muntoni, V. Wong, B. Chung, 2020, Molecular genetics & genomic medicine.

CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis

P. Sham, Y. Lau, B. Chung, 2016, Molecular genetics & genomic medicine.

Title CFTR founder mutation causes protein trafficking defects inChinese patients with cystic fibrosis

P. Sham, Y. Lau, B. Chung, 2016 .

A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.

B. Chung, M. Yu, C. Fung, 2019, Parkinsonism & related disorders.

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

P. Sham, B. Chung, Wanling Yang, 2018, BMC Medical Genomics.

Clinical and genetic profile of congenital long QT syndrome in Hong Kong: a 20-year experience in paediatrics.

B. Chung, C. Chan, C. C. Mak, 2018, Hong Kong medical journal = Xianggang yi xue za zhi.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

A. Hoischen, T. Meitinger, T. Strom, 2020, American journal of human genetics.

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.

Analytical validity and clinical utility of whole-genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis: abridged secondary publication.

B. Chung, C. C. Mak, G. Leung, 2022, Hong Kong medical journal = Xianggang yi xue za zhi.