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Author Details

Sharron Townshend
King Edward Memorial Hospital
2003
23
14
PMIDPaper TitleJournal TitlePublished Year
36385166Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.Mol Psychiatry2023
37723522The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.Genome Med2023
33168572Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.J Med Genet2021
34223693Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.Am J Med Genet A2021
32686290The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?Am J Med Genet A2020
33303739A flexible computational pipeline for research analyses of unsolved clinical exome cases.NPJ Genom Med2020
33159883RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.Am J Hum Genet2020
31288860New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.BMC Med Genomics2019
29214566Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.Adv Exp Med Biol2017
28468665Initiating an undiagnosed diseases program in the Western Australian public health system.Orphanet J Rare Dis2017
27287197The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.Orphanet J Rare Dis2016
25844550Ovarian sex cord-stromal tumors in patients with probable or confirmed germline DICER1 mutations.Int J Gynecol Pathol2015
26375424Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).Mol Cell Endocrinol2015
23336715The effect of height, weight and head circumference on gross motor development in achondroplasia.J Paediatr Child Health2013
23542699Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.Nat Genet2013
22112170Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years.J Paediatr Child Health2012
22409389Development in children with achondroplasia: a prospective clinical cohort study.Dev Med Child Neurol2012
20840664Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study.BJU Int2011
21838822Functional performance in young Australian children with achondroplasia.Dev Med Child Neurol2011
20081435Developmental milestones in infants and young Australasian children with achondroplasia.J Dev Behav Pediatr2010
20642652C1q nephropathy associated with deletion of long arm of chromosome 7.J Paediatr Child Health2010
16760732A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions.Clin Dysmorphol2006
12784289Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.Am J Med Genet A2003
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Collaborators

Andreas Zankl
The University of Sydney
Co-authored papers 7
Fiona McKenzie
King Edward Memorial Hospital
Co-authored papers 6
Nicholas Pachter
King Edward Memorial Hospital
Co-authored papers 6
Gareth Baynam
King Edward Memorial Hospital
Co-authored papers 5
David Sillence
Sydney University Clinical School, Children's Hospital
Co-authored papers 5
Jack Goldblatt
King Edward Memorial Hospital for Women
Co-authored papers 5
Stephanie Broley
King Edward Memorial Hospital
Co-authored papers 4
Hugh Dawkins
The University of Notre Dame Australia
Co-authored papers 4
Jennie Slee
King Edward Memorial Hospital
Co-authored papers 4
Cathy Kiraly-Borri
Princess Margaret Hospital
Co-authored papers 4
John Beilby
University of Western Australia
Co-authored papers 4
Lyn Schofield
King Edward Memorial Hospital for Women Perth
Co-authored papers 3
Kym Mina
QEII Medical Centre
Co-authored papers 3
Caron Molster
Public Health and Clinical Services Division
Co-authored papers 3
Tudor Groza
Perth Children's Hospital
Co-authored papers 3
Anand Vasudevan
Royal Women's Hospital
Co-authored papers 3
Caroline E Walker
University of London
Co-authored papers 3
Anne Hawkins
Stanford University School of Medicine
Co-authored papers 3
Tarun Weeramanthri
University of Western Australia
Co-authored papers 3
Domenica Taruscio
National Center for Rare Diseases, Istituto Superiore di Sanita
Co-authored papers 2
Marcel E Dinger
The University of Sydney
Co-authored papers 2
Nigel G Laing
Harry Perkins Institute of Medical Research, University of Western Australia
Co-authored papers 2
Paul Lasko
McGill University. Montreal
Co-authored papers 2
Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Co-authored papers 2
Michael Brudno
University of Toronto
Co-authored papers 2
Timo Lassmann
Telethon Kids Institute, University of Western Australia
Co-authored papers 2
Mark J Cowley
Children's Cancer Institute, Lowy Cancer Research Centre
Co-authored papers 2
Kym M Boycott
Children's Hospital of Eastern Ontario
Co-authored papers 2
John S Mattick
Australia UNSW RNA Institute
Co-authored papers 2
Amanda B Spurdle
QIMR Berghofer Medical Research Institute
Co-authored papers 2
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