Anson Cheng

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing

John Grigg, Gladys Ho, Ivan Prokudin et al. · Human Mutation · 2015 · 132 citations · Full text

Gap Junction Genes, Ocular Disease, Ophthalmology +12

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

Asif Javed, Amin Sabri, Denise J. Morgan et al. · Genetics in Medicine · 2019 · 62 citations · Full text

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

Alan Ma, Saira Yousoof, John Grigg et al. · Genetics in Medicine · 2020 · 54 citations · Full text

Mutations in<i>SIPA1L3</i>cause eye defects through disruption of cell polarity and cytoskeleton organization

Rebecca Greenlees, Marija Mihelec, Saira Yousoof et al. · Human Molecular Genetics · 2015 · 49 citations · Full text

Genome sequencing in congenital cataracts improves diagnostic yield

Alan Ma, John Grigg, Maree Flaherty et al. · Human Mutation · 2021 · 16 citations

Medicine, Genetics, Congenital Cataracts +14