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Ho‐Ming Luk

Observed names: H M Luk, H. Luk, H. M. Luk, H.M. Luk, HM Luk, Ho M. Luk, Ho Ming LUK, Ho Ming Luk, Ho-Ming Luk, Ho-ming Luk, Ho‐ming Luk, Luk, Ho-Ming
Observed institutions: Department of Health, Queen Mary Hospital, United Christian Hospital, Alice Ho Miu Ling Nethersole Hospital, Department of Health, Hong Kong Academy of Medicine, Hong Kong Children's Hospital, University of Hong Kong
ORCID: 0000-0003-4066-4066
Observed ORCID: 0000-0003-4066-4066
OpenAlex ID: A5022765956
NSD1 mutations generate a genome-wide DNA methylation signature
2015 · S. Choufani, C. Cytrynbaum, et al. · Nature Communications · 206
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Congenital Titinopathy: Comprehensive characterization and pathogenic insights
2018 · Emily C. Oates, Kristi J. Jones, et al. · Annals of Neurology · 153
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Williams–Beuren syndrome in diverse populations
2018 · Paul Kruszka, Antonio R. Porras, et al. · American Journal of Medical Genetics Part A · 72
Further delineation of the KAT6B molecular and phenotypic spectrum
2014 · DDD study, Tamsin Gannon, et al. · European Journal of Human Genetics · 65
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Silver–Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis
2016 · Ho‐Ming Luk, Fai‐Man Ivan Lo, et al. · American Journal of Medical Genetics Part A · 59
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Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong
2019 · Shirley S. W. Cheng, Kelvin Y. K. Chan, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 46
Angelman syndrome in Hong Kong Chinese: A 20 years’ experience
2016 · H.M. Luk, Ivan F.M. Lo · European Journal of Medical Genetics · 46
Rare SUZ12 variants commonly cause an overgrowth phenotype
2019 · Sharri S. Cyrus, Ana S. A. Cohen, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 45
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort
2014 · Wilson Wai Sing Chong, Ivan Fai Man Lo, et al. · Molecular Cytogenetics · 40
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Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation
2014 · KS Yeung, YY Chee, et al. · American Journal of Medical Genetics Part A · 35
Arginase Deficiency With New Phenotype and a Novel Mutation: Contemporary Summary
2012 · Jane Pui Ki Tsang, Wai Lun Poon, et al. · Pediatric Neurology · 35
Rubinstein–Taybi syndrome in diverse populations
2020 · Cedrik Tekendo‐Ngongang, Babajide Owosela, et al. · American Journal of Medical Genetics Part A · 32
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies
2018 · Gordon K. C. Leung, H. M. Luk, et al. · Scientific Reports · 30
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Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children
2018 · Kris P.T. Yu, Ho-Ming Luk, et al. · Clinical Dysmorphology · 29
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia
2017 · S.W. Cheng, Ho-Ming Luk, et al. · European Journal of Medical Genetics · 26
Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly
2018 · Chi Wai Wong, Penelope Mei Yu Or, et al. · Autism Research · 24
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Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature
2020 · Mimi Tin‐Yan Seto, Aida M. Bertoli‐Avella, et al. · American Journal of Medical Genetics Part A · 23
CTNNB1 ‐related neurodevelopmental disorder in a Chinese population: A case series
2021 · Stephanie Ho, Mandy Ho‐Yin Tsang, et al. · American Journal of Medical Genetics Part A · 21
HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals
2019 · Deepika D'Cunha Burkardt, Anna Zachariou, et al. · American Journal of Medical Genetics Part A · 21
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Prenatal phenotype of Kabuki syndrome: A case series and literature review
2021 · Po Lam So, Ho Ming Luk, et al. · Prenatal Diagnosis · 19
Adult Chinese twins with Kenny–Caffey syndrome type 2: A potential age‐dependent phenotype and review of literature
2020 · Shirley S. W. Cheng, Pui Kwan Joyce Chan, et al. · American Journal of Medical Genetics Part A · 19
Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study
2023 · Anna KY Kwong, Yanmin Zhang, et al. · Neuromuscular Disorders · 18
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation
2015 · Shen Gu, Jennifer E. Posey, et al. · Human Mutation · 18
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Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex
2022 · Samuel YL. Ng, Ho-Ming Luk, et al. · European Journal of Medical Genetics · 15
Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong
2020 · Po L. So, Ho M. Luk, et al. · American Journal of Medical Genetics Part A · 15
Works count: 151
Citation count: 1,586
H-index: 19
I10-index: 45
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