Wai‐Man Chan

Broad Institute — United States

Medicine · Health Sciences

53h-index10.3kcitations222works4.52yr avg
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Research Topics

Retinal Diseases and Treatments(59), Glaucoma and retinal disorders(43), Retinal and Optic Conditions(31), Ophthalmology and Eye Disorders(30), Intraocular Surgery and Lenses(27)

Publications221 total

Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.
PubMed·2025Open Access
Systematic phenotype and genotype characterization of Moebius syndrome
Genetics in Medicine Open·2025Open Access
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Nature Communications·2024· 7 citedOpen Access
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays
2024· 1 citedOpen Access
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Genetics in Medicine·2024· 13 citedOpen Access
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
2024· 2 citedOpen Access
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
Genetics in Medicine·2024· 4 citedOpen Access
Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia
JAMA Ophthalmology·2024· 9 citedOpen Access
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
2023· 1 citedOpen Access
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Nature Genetics·2023· 32 citedOpen Access
Re‐examine the transfusion transmitted risk of <scp>SARS‐CoV</scp>‐2 virus during a major <scp>COVID</scp>‐19 outbreak in 2022
Transfusion Medicine·2023· 5 cited
Recessive variants in <i>COL25A1</i> gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder
Human Mutation·2022· 19 citedOpen Access
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Human Genetics·2021· 28 citedOpen Access
Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles
International Journal of Molecular Sciences·2021· 12 citedOpen Access
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
European Journal of Human Genetics·2021· 29 citedOpen Access
KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3
Ophthalmic Genetics·2020· 8 citedOpen Access
Recurrent Rare Copy Number Variants Increase Risk for Esotropia
Investigative Ophthalmology & Visual Science·2020· 17 citedOpen Access
PROSPECTIVE EVALUATION OF THE G8 SCREENING TOOL FOR PREDICTING TREATMENT-RELATED TOXICITIES IN CHINESE ELDERLY CANCER PATIENTS
Journal of Geriatric Oncology·2019
Genetic associations in esotropia: genome-wide association study and copy number variation
Journal of American Association for Pediatric Ophthalmology and Strabismus·2019
Rare Copy Number Variants Increase Risk for Esotropia
2019
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Frequent Co-authors

Elizabeth C. Engle(17), Timothy Y. Y. Lai(17), Dennis S.C. Lam(17), Caroline Andrews(14), David G. Hunter(7), David T.L. Liu(7), Irène Gottlob(6), Max A. Tischfield(5), Thomas M. Bosley(5), Christopher Kai-Shun Leung(5), Ricky Y. K. Lai(5), Ester Cerin(5), Cindy H. P. Sit(5), Man-chin Cheung(5), Sarah MacKinnon(5), Joseph L. Demer(4), Elias I. Traboulsi(4), Emin Cumhur Şener(4), Koki Yamada(4), Wing‐Ho Yung(4)