Researcher profile · Semantic Scholar

M. Tsang

h-index: 14
Works: 27
Citations: 627

Most-cited papers

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism
Kit San Yeung, W. Tso, J. Ip, C. Mak +7 more
2017Molecular Autism116 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
Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly
Guoliang Chai, A. Webb, Chen Li, D. Antaki +33 more
2020Neuron47 citations Open access
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
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
M. Yu, M. Tsang, S. Lai, M. S. Ho +22 more
2019npj Genomic Medicine40 citations Open access
Semantic Scholar
A fatal case of COQ7‐associated primary coenzyme Q10 deficiency
A. K. Kwong, Annie T G Chiu, M. Tsang, K. Lun +4 more
2019JIMD Reports38 citations Open access
Semantic Scholar
Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy
M. Tsang, G. Leung, A. Ho, Kit San Yeung +10 more
2018Epilepsia Open31 citations Open access
Semantic Scholar
Exome sequencing in paediatric patients with movement disorders
A. K. Kwong, M. Tsang, J. Fung, C. Mak +19 more
2020Orphanet Journal of Rare Diseases29 citations Open access
Semantic Scholar
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population
M. Yu, M. Chan, C. Chung, Andrew Li +19 more
2021PLoS Genetics24 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
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese
J. F. Chau, M. Yu, M. Chui, Cyrus Chun Wing Yeung +22 more
2022npj Genomic Medicine20 citations Open access
Semantic Scholar
CTNNB1‐related neurodevelopmental disorder in a Chinese population: A case series
Stephanie K. L. Ho, M. Tsang, J. Fung, Haibo Huang +5 more
2021American Journal of Medical Genetics. Part A20 citations
Semantic Scholar
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes
Kit San Yeung, Florrie N. Y. Yu, C. Fung, S. Wong +14 more
2020Molecular Genetics & 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
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
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data
M. Yu, C. Mak, J. Fung, Mianne Lee +11 more
2020Journal of Human Genetics7 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
Genetic basis of persistent red blood cell microcytosis in the Chinese unexplained by phenotypical testing
Chi-Chiu So, A. Liu, M. Tsang, Donna Y Ngai +2 more
2014Journal of Clinical Pathology3 citations Open access
Semantic Scholar
Clinical and molecular features of pleuropulmonary blastoma in children in Hong Kong: case reports.
Anthony P. Y. Liu, Marcus KL Fung, Mianne Lee, J. Fung +4 more
2022Hong Kong medical journal = Xianggang yi xue za zhi2 citations Open access
Semantic Scholar
Successful transition from insulin to sulphonylurea in a child with neonatal diabetes mellitus diagnosed beyond six months of age due to C42R mutation in the KCNJ11 gene
S. W. Poon, B. Chung, M. Tsang, J. Tung
2022Clinical Pediatric Endocrinology2 citations Open access
Semantic Scholar
Delineation of molecular �ndings by whole exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
M. Tsang
20202 citations
Semantic Scholar
Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic
Mianne Lee, Adrian C. Y. Lui, C. Mak, M. Tsang +3 more
2022Clinical Dysmorphology1 citations
Semantic Scholar
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese
J. F. Chau, M. Yu, M. Chui, Cyrus Chun Wing Yeung +22 more
2022npj Genomic Medicine0 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 Genomics0 citations Open access
Semantic Scholar
Occult alpha globin gene mutations are the commonest causes of red cell microcytosis unexplained by phenotypic testing
J. So, A. Liu, M. Tsang, D. Ngai +2 more
20140 citations
Semantic Scholar

C. Mak

×9

Christopher C. Y. Mak×9

C. Fung×9

G. Leung×7

Wan-Ling Yang×7

Mianne Lee×7

S. Pei×6

So-Lun Lee×6