Shannon Cowie

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Zornitza Stark, Tiong Yang Tan, Belinda Chong et al. · Genetics in Medicine · 2016 · 411 citations · Full text

Life Sciences, Genetics, Pediatrics +16

Hyperplastic Polyposis Syndrome: Phenotypic Presentations and the Role of MBD4 and MYH

Elizabeth Chow, Lara Lipton, Elly Lynch et al. · Gastroenterology · 2006 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

Alison D. Archibald, Melanie Smith, Trent Burgess et al. · Genetics in Medicine · 2017 · 124 citations · Full text

Life Sciences, Genetics, Obstetrics +17

Population screening and cascade testing for carriers of SMA

Melanie Smith, Vanessa Calabro, Belinda Chong et al. · European Journal of Human Genetics · 2007 · 75 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Premature arthritis is a distinct type II collagen phenotype

John F. Bateman, Susan Randle, Shannon Cowie et al. · Arthritis & Rheumatism · 2010 · 58 citations

Medicine, Genetics, Molecular Genetics +13