Christopher Chun Yu Mak

Author

Also Known As

C.C.Y. Mak, Christopher C Y Mak, Christopher C. Y. Mak, Christopher C.Y. Mak, Christopher Chun Yu Mak, Christopher Chun-Yu Mak, Christopher Chun-Yun Mak, Christopher Chun‐Yu Mak, Christopher Mak, Heidi Beate Bentzen

Publications

1.4K

Citations

H-Index

Concepts

All Affiliations

University of Hong Kong Queen Mary Hospital Duchess of Kent Children's Hospital Tsan Yuk Hospital Radboud University Medical Center

About

Christopher Chun Yu Mak is an author at University of Hong Kong specializing in medicine, genetics, and genetic epidemiology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	500
2	Public Health	3	3	206
3	Epidemiology	2	2	192
4	Cell Biology	1	1	62
5	Global Health	1	1	57

Christopher Chun Yu Mak

Publications

1.3K

Citations

H-Index

Page 1

	Year	Citations
22q11.2 deletion syndrome in diverse populations Paul Kruszka, Yonit A. Addissie, Daniel E. McGinn, American Journal of Medical Genetics Part A EthnicityGeneticsGenetic EpidemiologyHuman PolymorphismDeletion Syndrome	2017	165
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism Kit San Yeung, Winnie W. Y. Tso, Janice Jing Kun Ip, Molecular Autism	2017	114
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, The American Journal of Human Genetics Genetic DisorderGeneticsPathogenesisMolecular GeneticsDisease Gene Identification	2017	113
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis Jasmine Lee Fong Fung, Mullin H.C. Yu, Shushu Huang, npj Genomic Medicine	2020	76
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs Claudia Ching Yan Chung, Gordon K. C. Leung, Christopher Chun Yu Mak, The Lancet Regional Health - Western Pacific	2020	67
SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals Bobby G. Ng, Paulina Sosicka, Satish Agadi, Human Mutation ImmunologyGlycobiologyMolecular BiologyGenetic EpidemiologyPathology	2019	62
Prevalence of silent kidney disease in Hong Kong: The Screening for Hong Kong Asymptomatic Renal Population and Evaluation (SHARE) program Philip Kam‐Tao Li, Bonnie Ching‐Ha Kwan, Chi Bon Leung, Kidney International HemodialysisUrologyRenal DiseaseRenal FunctionMedicine	2005	57
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin, Brain	2019	52
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) Gordon K. C. Leung, Christopher Chun Yu Mak, Jasmine Lee Fong Fung, BMC Medical Genomics	2018	48
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese Mullin H.C. Yu, Mandy Ho-Yin Tsang, Sophie Lai, npj Genomic Medicine	2019	44

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