Rebecca Purvis

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

Dhamidhu Eratne, Amy Schneider, Ella Lynch et al. · Journal of the Neurological Sciences · 2020 · 31 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Variant Interpretation +11

Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene

Catherine Beard, Rebecca Purvis, Ingrid Winship et al. · Familial Cancer · 2019 · 27 citations

Genetics, Axin2 Gene, Nonsense Variant +8

Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health

Mary‐Anne Young, Tatiane Yanes, Anne Ε. Cust et al. · Twin Research and Human Genetics · 2023 · 23 citations · Full text

Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer

James Chan, Mark Clendenning, Sharelle Joseland et al. · Familial Cancer · 2021 · 19 citations

Rare Germline Variants, Medicine, Genetics +9

Clinical impact of whole-genome sequencing in patients with early-onset dementia

Aamira Huq, Bryony A. Thompson, Mark F. Bennett et al. · Journal of Neurology Neurosurgery & Psychiatry · 2022 · 16 citations