Alan Ma

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Sebastian Lunke, Stefanie Eggers, Meredith Wilson et al. · JAMA · 2020 · 237 citations · Full text

Medicine, Child Health, Pediatrics +13

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development

Else Eising, Amaia Carrión-Castillo, Arianna Vino et al. · Molecular Psychiatry · 2018 · 180 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Severe childhood speech disorder

Michael S. Hildebrand, Victoria E. Jackson, Thomas Scerri et al. · Neurology · 2020 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

Edwin P. Kirk, Royston Ong, Kirsten Boggs et al. · European Journal of Human Genetics · 2020 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 104 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17