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Author Details

Felicity Collins
Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital
1990
47
26
Vardit Ravitsky (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36385166Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.Mol Psychiatry2023
37249002DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variants.Epigenomics2023
36757831The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.Brain2023
35046503A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease.Eur J Hum Genet2022
33060286Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.J Med Genet2021
32165008Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.Mol Genet Metab2020
31794024Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.Brain2020
32639540Mutations in the exocyst component EXOC2 cause severe defects in human brain development.J Exp Med2020
30275510Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.Genet Med2019
30190611Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.Genet Med2019
29215649A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.Genet Med2018
30165906Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.Clin Epigenetics2018
28792876NAD Deficiency, Congenital Malformations, and Niacin Supplementation.N Engl J Med2017
28599087Growth charts for Australian children with achondroplasia.Am J Med Genet A2017
25290912Joint hypermobility syndrome: a review for clinicians.J Paediatr Child Health2015
23992033Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome.Clin Genet2014
25431289Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.Twin Res Hum Genet2014
24603971Detection of chromosomal breakpoints in patients with developmental delay and speech disorders.PLoS One2014
2296813214q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.Eur J Hum Genet2013
24127277Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.Am J Med Genet C Semin Med Genet2013
24038909RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.Hum Mutat2013
23600797Update on the investigation of children with delayed development.J Paediatr Child Health2013
22162478Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.J Clin Endocrinol Metab2012
22503633Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.Am J Hum Genet2012
22499340NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.J Med Genet2012
22190451Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.Hum Mutat2012
19648123Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.J Med Genet2011
21190981Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.J Clin Endocrinol Metab2011
19651383Genetics terminology for respiratory physicians.Paediatr Respir Rev2009
18450872Early diagnosis of fibrodysplasia ossificans progressiva.Pediatrics2008
18279435Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region.Clin Genet2008
17325026Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis.Cancer Res2007
17344927Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.J Invest Dermatol2007
16317299Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association.Clin Dysmorphol2006
16049068Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.J Am Soc Nephrol2005
14705112De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.Ann Neurol2004
12868076Three different origins for apparent triploid/diploid mosaics.Prenat Diagn2003
10655070Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours.Nat Genet2000
11135492Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties.Ophthalmic Genet2000
7573035An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.Am J Hum Genet1995
8098487Multiple congenital defects associated with maternal use of topical tretinoin.Lancet1993
8148147The distinction between multiple retinal pigment epithelial hamartomata (MRPEH) in familial adenomatous polyposis (FAP) and congenital hypertrophy of the retinal pigment epithelium (CHRPE)Aust N Z J Ophthalmol1993
8108299Pathology of osseous and genitourinary lesions of Proteus syndrome.Pediatr Pathol1993
8213926Oral-facial-digital syndrome and retinal abnormalities with autosomal recessive inheritance.Am J Med Genet1993
1308352Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.Am J Med Genet1992
1824668Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.Am J Hum Genet1991
2302822A new syndrome of familial short stature, small hands, valvular heart disease and a characteristic facies.Clin Genet1990
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Collaborators

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Co-authored papers 4
King Edward Memorial Hospital
Co-authored papers 3
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Co-authored papers 2
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Co-authored papers 2
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Co-authored papers 2
Co-authored papers 2
Clinical Geneticist, Genetic Health Service
Co-authored papers 2
KTH - Royal Institute of Technology
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Co-authored papers 2
Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
Co-authored papers 2
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Co-authored papers 2
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Ann and Robert H. Lurie Children's Hospital of Chicago
Co-authored papers 2
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
Baylor College of Medicine
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University of Missouri-Kansas City Kansas City
Co-authored papers 2
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The Hastings Center
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