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Author Details

Cathy Kiraly-Borri
Princess Margaret Hospital
2006
22
13
PMIDPaper TitleJournal TitlePublished Year
35645043Further evidence for distinct traits associated with RBM10 missense variants.Clin Genet2022
35645043Further evidence for distinct traits associated with RBM10 missense variants.Clin Genet2022
33772786A surveillance clinic for children and adolescents with, or at risk of, hereditary cancer predisposition syndromes.Med J Aust2021
33858951Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry.Int J Gynecol Cancer2021
33772786A surveillance clinic for children and adolescents with, or at risk of, hereditary cancer predisposition syndromes.Med J Aust2021
33858951Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry.Int J Gynecol Cancer2021
33303739A flexible computational pipeline for research analyses of unsolved clinical exome cases.NPJ Genom Med2020
33303739A flexible computational pipeline for research analyses of unsolved clinical exome cases.NPJ Genom Med2020
30614210Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.Mol Genet Genomic Med2019
30614210Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.Mol Genet Genomic Med2019
30819764Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the <i>AARS2</i> gene: further delineation of the phenotypic spectrum.Cold Spring Harb Mol Case Stud2019
30819764Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the <i>AARS2</i> gene: further delineation of the phenotypic spectrum.Cold Spring Harb Mol Case Stud2019
29159459EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.JIMD Rep2018
30165906Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.Clin Epigenetics2018
29900417The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variants.Wellcome Open Res2018
29159459EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.JIMD Rep2018
30165906Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.Clin Epigenetics2018
29900417The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variants.Wellcome Open Res2018
28805828Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.Nat Genet2017
28468665Initiating an undiagnosed diseases program in the Western Australian public health system.Orphanet J Rare Dis2017
28805828Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.Nat Genet2017
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
29214566Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.Adv Exp Med Biol2017
27087319Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.Am J Hum Genet2016
27287197The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.Orphanet J Rare Dis2016
27087319Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.Am J Hum Genet2016
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
26578207Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.Orphanet J Rare Dis2015
24129101NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients.J Pediatr Endocrinol Metab2014
24474394Population-based screening for Lynch syndrome in Western Australia.Int J Cancer2014
24129101NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients.J Pediatr Endocrinol Metab2014
24508941Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.Gene2014
24508941Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.Gene2014
24474394Population-based screening for Lynch syndrome in Western Australia.Int J Cancer2014
23746549Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.Am J Hum Genet2013
23746549Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.Am J Hum Genet2013
20358610A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign.Am J Med Genet A2010
20358610A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign.Am J Med Genet A2010
18594871Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome.Pediatr Nephrol2008
18594871Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome.Pediatr Nephrol2008
16832102Early progressive encephalopathy in boys and MECP2 mutations.Neurology2006
16832102Early progressive encephalopathy in boys and MECP2 mutations.Neurology2006
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Collaborators

Gareth Baynam
King Edward Memorial Hospital
Co-authored papers 8
Lyn Schofield
King Edward Memorial Hospital for Women Perth
Co-authored papers 6
Nicholas Pachter
King Edward Memorial Hospital
Co-authored papers 6
Jack Goldblatt
King Edward Memorial Hospital for Women
Co-authored papers 6
Fiona McKenzie
King Edward Memorial Hospital
Co-authored papers 5
Jennie Slee
King Edward Memorial Hospital
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
Anand Vasudevan
Royal Women's Hospital
Co-authored papers 4
Nigel G Laing
Harry Perkins Institute of Medical Research, University of Western Australia
Co-authored papers 4
John Beilby
University of Western Australia
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Stephanie Broley
King Edward Memorial Hospital
Co-authored papers 4
Tarun Weeramanthri
University of Western Australia
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
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Caroline E Walker
University of London
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Anne Hawkins
Stanford University School of Medicine
Co-authored papers 3
Domenica Taruscio
National Center for Rare Diseases, Istituto Superiore di Sanita
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
Mark J Cowley
Children's Cancer Institute, Lowy Cancer Research Centre
Co-authored papers 2
Martin Zenker
Co-authored papers 2
John S Mattick
Australia UNSW RNA Institute
Co-authored papers 2
John Christodoulou
University of Melbourne, The Royal Children's Hospital
Co-authored papers 2
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