Emma Hackett

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

Alan Ma, Saira Yousoof, John Grigg et al. · Genetics in Medicine · 2020 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)

Melody Caramins, James G. Colebatch, Matthew N. Bainbridge et al. · Human Molecular Genetics · 2013 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families

Hope A. Tanudisastro, Katherine Holman, Gladys Ho et al. · npj Genomic Medicine · 2021 · 25 citations · Full text

Life Sciences, Genetics, Nephrology +9

Genome sequencing in congenital cataracts improves diagnostic yield

Alan Ma, John Grigg, Maree Flaherty et al. · Human Mutation · 2021 · 17 citations

Life Sciences, Genetics, Molecular Genetics +17