Concepedia
5
Publications
119
Citations
H-Index
2014
Active since
Affiliations
Pathwest Laboratory Medicine(Current)
The University of Western Australia
Royal Perth Hospital
Harry Perkins Institute of Medical Research
Hospital Universitario Virgen del Rocío
Vanessa Atkinson is an author at Pathwest Laboratory Medicine specializing in molecular genetics, genetics, and medicine.
Top concepts
GeneticsMedicineMolecular GeneticsDevelopmental Biology
Publications per year
2014–2020
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
Sarah J. Beecroft, Kyle S. Yau, Richard J. N. Allcock et al. · Annals of Clinical and Translational Neurology · 2020 · 46 citations · Full text
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor
Raman Kumar, Elizabeth E. Palmer, Alison Gardner et al. · Frontiers in Molecular Neuroscience · 2020 · 21 citations · Full text
Novel <i>CHKB</i> mutation expands the megaconial muscular dystrophy phenotype
Macarena Cabrera‐Serrano, Reimar Junckerstorff, Vanessa Atkinson et al. · Muscle & Nerve · 2014 · 19 citations · Full text
Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1
Christopher Barnett, Emily J. Todd, Royston Ong et al. · American Journal of Medical Genetics Part A · 2014 · 17 citations
Developmental Biology, Novel Clinical Features, Genetics +3
Silver Russel syndrome in an aboriginal patient from Australia
Cathryn Poulton, Dimitar N. Azmanov, Vanessa Atkinson et al. · American Journal of Medical Genetics Part A · 2018 · 16 citations
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