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Shirley S. W. Cheng

Observed names: Shirley S.W. Cheng, Shirley SW. Cheng, Shirley Sze Wing Cheng, Shirley Sze‐Wing Cheng
ORCID: 0000-0002-9923-7424
Observed ORCID: 0000-0002-9923-7424
OpenAlex ID: A5052085131
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
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
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
Genotype and phenotype in 18 Chinese patients with Coffin‐Siris syndrome
2021 · Shirley S. W. Cheng, Ho‐Ming Luk, et al. · American Journal of Medical Genetics Part A · 12
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong
2019 · Kris P. T. Yu, Ho‐Ming Luk, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 11
First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing
2021 · Wendy Shu, Shirley S. W. Cheng, et al. · Genes · 10
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CHARGE syndrome in nine patients from China
2019 · Shirley S. W. Cheng, Ho‐Ming Luk, et al. · American Journal of Medical Genetics Part A · 10
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project
2025 · Wai Kei Jacky Lam, Chak Sing Lau, et al. · The Lancet Regional Health - Western Pacific · 8
Intellectual Functioning of Children With Isolated PRS, PRS-Plus, and Syndromic PRS
2022 · Stephanie Malarbi, Anita K. Chisholm, et al. · The Cleft Palate-Craniofacial Journal · 8
Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders
2022 · Ye Cao, Ho Ming Luk, et al. · Frontiers in Genetics · 8
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Molecular autopsy in Chinese sudden cardiac death in the young
2024 · Sit‐Yee Kwok, Stephanie Ho, et al. · American Journal of Medical Genetics Part A · 6
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Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years
2022 · Stephanie KL. Ho, Ho-ming Luk, et al. · European Journal of Medical Genetics · 5
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RECQL4-related Rothmund-Thomson syndrome: A case series and literature review
2025 · Stephanie Ka Lun Ho, Grace Pui Yung Tong, et al. · Cancer Genetics · 4
An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair ( Loucks‐Innes syndrome)
2021 · Shirley S. W. Cheng, Ho‐Ming Luk, et al. · American Journal of Medical Genetics Part A · 4
Population-scale genomic medicine with the Hong Kong Genome Project
2026 · Dingge Ying, Ching-Lung Cheung, et al. · Nature Medicine · 2
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Waardenburg Syndrome: Review of Genotype–Phenotype Relationships in 30 Patients in Hong Kong
2025 · Jennifer Y. Y. Poon, W. C. Yiu, et al. · American Journal of Medical Genetics Part A · 2
Familial patellar dislocation and concomitant short stature due to a loss of function in ACAN gene detected by nanopore long-read sequencing
2025 · Lisa L. P. Siu, Henry C. M. Leung, et al. · Journal of Rare Diseases · 1
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First case report of STAG2-associated syndromic disorder resulting from partial exon deletion inherited from asymptomatic mosaic carrier mother
2025 · Joshua C.K. Chan, Tracy C.H. Wong, et al. · Clinical Dysmorphology · 1
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers
2024 · Stephanie K. L. Ho, Samuel Y. L. Ng, et al. · American Journal of Medical Genetics Part A · 1
A de novo pathogenic variant in neuronal differentiation factor 2 in a Chinese patient with early infantile epileptic encephalopathy
2024 · Jennifer Yuen Ying Poon, Myth Tsz Shun Mok, et al. · Clinical Dysmorphology · 1
Chinese patients with p.Ala172Phe-related Pfeiffer syndrome: a case and literature review
2018 · Shirley Sze Wing Cheng, Ivan Fai-Man Lo, et al. · Clinical Dysmorphology · 1
Systematic evaluation of long-read and short-read sequencing in neurological disorders diagnosis: a direct comparison study of 310 patients
2026 · Dream Lok Sze Chan, Helen Ying Fung Tam, et al. · npj Genomic Medicine
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Long-term outcomes in 45,X/46,XY mosaicism: a 30-year retrospective study in Hong Kong
2026 · Sarah Wing Yiu Poon, Sharon Wing Yan To, et al. · Annals of Pediatric Endocrinology & Metabolism
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Works count: 32
Citation count: 209
H-index: 9
I10-index: 9
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