Royston Ong

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy

Roula Ghaoui, Sandra T. Cooper, Monkol Lek et al. · JAMA Neurology · 2015 · 201 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

Gianina Ravenscroft, Flora Nolent, Sulekha Rajagopalan et al. · The American Journal of Human Genetics · 2015 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +2

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

Emily J. Todd, Kyle S. Yau, Royston Ong et al. · Orphanet Journal of Rare Diseases · 2015 · 118 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

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients

Steven B. Marston, Massimiliano Memo, Andrew E. Messer et al. · Human Molecular Genetics · 2013 · 82 citations · Full text

Life Sciences, Genetics, Molecular Biology +17