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Christopher C. Y. Mak · SciRah

Researcher profile · Semantic Scholar

Christopher C. Y. Mak

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Christopher C. Y. Mak — researcher profile on SciRah

h-index: 14
Works: 31
Citations: 727

Most-cited papers

22q11.2 Deletion Syndrome in Diverse Populations
P. Kruszka, Y. Addissie, D. McGinn, A. R. Porras +35 more
2017American Journal of Medical Genetics. Part A119 citations Open access
Semantic Scholar
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
T. Van Damme, T. Gardeitchik, M. Mohamed, Sergio Guerrero‐Castillo +37 more
2017American Journal of Human Genetics101 citations Open access
Semantic Scholar
SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals.
B. Ng, P. Sosicka, S. Agadi, M. Almannai +65 more
2019Human Mutation67 citations Open access
Semantic Scholar
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs
C. Chung, G. Leung, Christopher C. Y. Mak, J. Fung +20 more
2020The Lancet Regional Health - Western Pacific64 citations Open access
Semantic Scholar
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis
Jasmine L F Fung, M. Yu, Shushu Huang, C. Chung +8 more
2020npj Genomic Medicine62 citations Open access
Semantic Scholar
Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion
Annie T G Chiu, Shan Pei, Christopher C. Y. Mak, G. Leung +18 more
2018Clinical Genetics42 citations
Semantic Scholar
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
G. Leung, Christopher C. Y. Mak, J. Fung, W. Wong +14 more
2018BMC Medical Genomics42 citations Open access
Semantic Scholar
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies
G. Leung, Ho-Ming Luk, Vincent H. M. Tang, W. Gao +13 more
2018Scientific Reports24 citations Open access
Semantic Scholar
Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients
M. Tsang, Annie T G Chiu, B. Kwong, Rui Liang +11 more
2020Molecular Genetics & Genomic Medicine22 citations Open access
Semantic Scholar
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis
G. Leung, D. Ying, Christopher C. Y. Mak, Xinying Chen +17 more
2016Molecular Genetics & Genomic Medicine21 citations Open access
Semantic Scholar
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept
Mianne Lee, A. K. Kwong, M. Chui, J. F. Chau +8 more
2022npj Genomic Medicine15 citations Open access
Semantic Scholar
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome
K. Rethanavelu, J. Fung, J. F. Chau, S. Pei +4 more
2019American Journal of Medical Genetics. Part A15 citations
Semantic Scholar
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey
Christopher C. Y. Mak, G. K. Leung, G. T. Mok, Kit San Yeung +8 more
2018npj Genomic Medicine15 citations Open access
Semantic Scholar
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
M. Tsang, A. K. Kwong, K. L. Chan, J. Fung +17 more
2020Human Genomics14 citations Open access
Semantic Scholar
Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants
Mianne Lee, Adrian C. Y. Lui, J. C. Chan, P. H. L. Doong +5 more
2023Human Genomics12 citations Open access
Semantic Scholar
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.
Jasmine L F Fung, M. Tsang, G. Leung, Kit San Yeung +5 more
2019Parkinsonism & Related Disorders12 citations
Semantic Scholar
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
Jasmine L F Fung, M. Yu, Shushu Huang, C. Chung +8 more
2020npj Genomic Medicine11 citations Open access
Semantic Scholar
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong
K. P. Yu, Ho-Ming Luk, G. Leung, Christopher C. Y. Mak +7 more
2019American Journal of Medical Genetics. Part C, Seminars in Medical Genetics11 citations
Semantic Scholar
Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics
Christopher C. Y. Mak, H. Klinkhammer, S. Choufani, Nikola Reko +37 more
2025EBioMedicine10 citations Open access
Semantic Scholar
De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.
K. Booth, S. Jangam, M. Chui, K. Treat +25 more
2025Brain : a journal of neurology10 citations Open access
Semantic Scholar
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
T. Van Damme, T. Gardeitchik, M. Mohamed, Sergio Guerrero‐Castillo +37 more
2020American Journal of Human Genetics10 citations Open access
Semantic Scholar
De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients
Christopher C. Y. Mak, P. Chow, Anthony P. Y. Liu, K. Chan +10 more
2016npj Genomic Medicine10 citations Open access
Semantic Scholar
Evaluating High‐Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses
M. Chui, Christopher C. Y. Mak, M. Yu, Sandra Y. Y. Wong +5 more
2023Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease8 citations Open access
Semantic Scholar
Understanding and perception of direct‐to‐consumer genetic testing in Hong Kong
V. C. Hui, Ho Cheung William Li, J. Chow, Christal Ng +5 more
2021Journal of Genetic Counseling7 citations
Semantic Scholar
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
G. Leung, Christopher C. Y. Mak, Jasmine L F Fung, W. Wong +14 more
2018BMC Medical Genomics3 citations Open access
Semantic Scholar
Asthma subtypes and risk of cardiovascular disease: A Mendelian randomization study
N. Ng, Jie V. Zhao, Christopher C. Y. Mak, So-Lun Lee +1 more
2023Pediatric Allergy and Immunology2 citations Open access
Semantic Scholar
Abstract 14506: Re-Evaluating Clinically Relevant Genes in Conotruncal Cardiac Defects by Burden Analyses of Rare and Ultra-Rare Protein-Altering Variants
M. Chui, Christopher C. Y. Mak, M. Yu, F. Chau +5 more
2022Circulation0 citations
Semantic Scholar
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
M. Tsang, A. K. Kwong, K. L. Chan, J. Fung +17 more
2020Human Genomics0 citations Open access
Semantic Scholar
Cover Image, Volume 173A, Number 4, April 2017.
P. Kruszka, Y. Addissie, D. McGinn, A. R. Porras +35 more
2017American Journal of Medical Genetics. Part A0 citations
Semantic Scholar
Title CFTR founder mutation causes protein trafficking defects inChinese patients with cystic fibrosis
G. Leung, D. Ying, Christopher C. Y. Mak, Xinying Chen +17 more
20160 citations
Semantic Scholar
Title De novo large rare copy-number variations contribute toconotruncal heart disease in Chinese patients
Christopher C. Y. Mak, P. Chow, Anthony P. Y. Liu, K. Chan +10 more
20160 citations
Semantic Scholar

Frequent co-authors

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B. Chung×22
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B. Chung — researcher profile on SciRah
Kit San Yeung×14
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Kit San Yeung — researcher profile on SciRah
M. Yu×12
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M. Yu — researcher profile on SciRah
G. Leung×10
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G. Leung — researcher profile on SciRah

×9

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M. Tsang — researcher profile on SciRah

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G. Mok — researcher profile on SciRah

Jasmine L F Fung×6

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Jasmine L F Fung — researcher profile on SciRah

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K. Chan — researcher profile on SciRah

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S. Pei — researcher profile on SciRah

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C. Fung — researcher profile on SciRah

Wan-Ling Yang×5

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