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Author Details

Jennie Slee
King Edward Memorial Hospital
1991
26
14
PMIDPaper TitleJournal TitlePublished Year
34292487The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia.J Autism Dev Disord2023
36179574Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders.Res Dev Disabil2022
34344887Haploinsufficiency of SF3B2 causes craniofacial microsomia.Nat Commun2021
33303739A flexible computational pipeline for research analyses of unsolved clinical exome cases.NPJ Genom Med2020
33116122Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders.Transl Psychiatry2020
31231543Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.NPJ Genom Med2019
30564460Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.NPJ Genom Med2018
28612833Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.Eur J Hum Genet2017
28468665Initiating an undiagnosed diseases program in the Western Australian public health system.Orphanet J Rare Dis2017
29214566Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.Adv Exp Med Biol2017
27287197The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.Orphanet J Rare Dis2016
26578207Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.Orphanet J Rare Dis2015
24111874What constitutes cerebral palsy in the twenty-first century?Dev Med Child Neurol2014
21183788Identification of SOX3 as an XX male sex reversal gene in mice and humans.J Clin Invest2011
20415998Children's Nomenclatural Adventurism and Medical Evaluation study.J Paediatr Child Health2009
17593542Placental mesenchymal dysplasia associated with fetal overgrowth and mosaic deletion of the maternal copy of 11p15.5.Am J Med Genet A2007
11810276Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome.Hum Genet2001
10861674Yellow nail syndrome presenting as non-immune hydrops: second case report.Am J Med Genet2000
10327245Siblings with a syndrome of hydrocephalus with patent aqueduct, growth retardation and associated anomalies.Clin Dysmorphol1999
10340646Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification.Am J Med Genet1999
9746004What constitutes cerebral palsy?Dev Med Child Neurol1998
9220192A syndrome of leukonychia totalis and multiple sebaceous cysts.Clin Dysmorphol1997
9132503Further evidence for preaxial hallucal polydactyly as a marker of diabetic embryopathy.J Med Genet1997
9001813Further evidence for a syndrome of "apple peel" intestinal atresia, ocular anomalies and microcephaly.Clin Genet1996
7811205Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports.Aust Dent J1994
1870098Deletion of chromosome 13 in Moebius syndrome.J Med Genet1991
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Collaborators

Jack Goldblatt
King Edward Memorial Hospital for Women
Co-authored papers 11
Cathy Kiraly-Borri
Princess Margaret Hospital
Co-authored papers 5
Nigel G Laing
Harry Perkins Institute of Medical Research, University of Western Australia
Co-authored papers 5
Sharron Townshend
King Edward Memorial Hospital
Co-authored papers 4
Hugh Dawkins
The University of Notre Dame Australia
Co-authored papers 4
Mark R Davis
QEII Medical Centre, Hospital Avenue
Co-authored papers 4
Nicholas Pachter
King Edward Memorial Hospital
Co-authored papers 4
Fiona McKenzie
King Edward Memorial Hospital
Co-authored papers 4
Stephanie Broley
King Edward Memorial Hospital
Co-authored papers 4
Gareth Baynam
King Edward Memorial Hospital
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
John Beilby
University of Western Australia
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
William A Gahl
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
Stephen C Groft
National Center for Advancing Translational Sciences, National Institutes of Health
Co-authored papers 2
Cynthia J Tifft
National Human Genome Research Institute
Co-authored papers 2
Andreas Zankl
The University of Sydney
Co-authored papers 2
Kenjiro Kosaki
Center for Medical Genetics, Keio University School of Medicine
Co-authored papers 2
Jenefer M Blackwell
Co-authored papers 2
Marcel E Dinger
The University of Sydney
Co-authored papers 2
Paul Lasko
McGill University. Montreal
Co-authored papers 2
Timo Lassmann
Telethon Kids Institute, University of Western Australia
Co-authored papers 2
John S Mattick
Australia UNSW RNA Institute
Co-authored papers 2
Release 1.2