Alison D. Archibald

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 · 117 citations · Full text

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 · 109 citations · Full text

Biology, Genetic Testing, Gene Selection +15

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 · 99 citations

Medicine, Genetics, Rna Splicing +11

Genetic Counseling and Testing for <i>FMR1</i> Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors

Brenda Finucane, Liane Abrams, Amy Cronister et al. · Journal of Genetic Counseling · 2012 · 74 citations · Full text

Counseling, Genetic Testing, Genetics +19

“It wasn't a disaster or anything”: Parents’ experiences of their child's uncertain chromosomal microarray result

Ella Wilkins, Alison D. Archibald, Margaret Sahhar et al. · American Journal of Medical Genetics Part A · 2016 · 69 citations