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Author Details

Tony Roscioli
Prince of Wales Hospital
2000
135
35
PMIDPaper TitleJournal TitlePublished Year
36868206Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.Am J Hum Genet2023
37654076Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.Am J Med Genet C Semin Med Genet2023
37873138Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.medRxiv2023
37087635Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.Genet Med2023
37446392Identification of Regulatory Molecular "Hot Spots" for LH/PLOD Collagen Glycosyltransferase Activity.Int J Mol Sci2023
37198333De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.Hum Genet2023
37031378Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.Am J Med Genet A2023
37196654The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.Am J Hum Genet2023
36724785Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.Am J Hum Genet2023
36751037A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.Am J Med Genet A2023
35082396Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant.Eur J Hum Genet2022
35395208Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.Am J Hum Genet2022
36110148Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in <i>AFG3L2</i>.Mov Disord Clin Pract2022
35970915Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.Eur J Hum Genet2022
35872606Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.Am J Med Genet C Semin Med Genet2022
35904126De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.Hum Mutat2022
35904121Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.Hum Mutat2022
36085161The role of exome sequencing in childhood interstitial or diffuse lung disease.Orphanet J Rare Dis2022
35947102Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.Ann Neurol2022
35916866De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.Genet Med2022
34981858BCAS3-Related Neurodevelopmental Disorder Shows Magnetic Resonance Imaging Features Resembling Brain Iron Accumulation.Mov Disord2022
32678339Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").Eur J Hum Genet2021
33847015Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.Hum Mutat2021
33872655Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.J Allergy Clin Immunol2021
33811546Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.Hum Genet2021
33632298ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.Genome Med2021
35047860Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.HGG Adv2021
33962052Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency.J Mol Diagn2021
32260281<i>CDH1</i> Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.Genes (Basel)2020
31779033Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.Neuropediatrics2020
31980565Impacts of genomics on the health and social costs of intellectual disability.J Med Genet2020
33199684Germline AGO2 mutations impair RNA interference and human neurological development.Nat Commun2020
32573669Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.JAMA2020
32652677Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).Hum Mutat2020
32442335The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.Hum Mutat2020
32302040CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.Am J Med Genet A2020
32266521A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.Hum Genet2020
30556619Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.Hum Mutat2019
31646703Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.Hum Mutat2019
30078120High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.Cerebellum2019
29961766Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".Genet Med2019
30251170Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk.Fam Cancer2019
31215115Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.Hum Mutat2019
31321886Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.Am J Med Genet A2019
31175705Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.Am J Med Genet A2019
31129566Pathogenic variants in <i>PLOD3</i> result in a Stickler syndrome-like connective tissue disorder with vascular complications.J Med Genet2019
30827498De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.Am J Hum Genet2019
31085343Personal genomic screening: How best to facilitate preparedness of future clients.Eur J Med Genet2019
30964588User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.J Genet Couns2019
30929740De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.Am J Hum Genet2019
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Collaborators

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University of Missouri-Kansas City Kansas City
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University of Melbourne, The Royal Children's Hospital
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Maastricht University Medical Centre
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Murdoch Children's Research Institute
Co-authored papers 7
Radboud University Medical Center
Co-authored papers 7
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King Edward Memorial Hospital
Co-authored papers 5
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Children's Hospital of Eastern Ontario
Co-authored papers 5
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Co-authored papers 5
Co-authored papers 4
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 4
The University of Sydney
Co-authored papers 4
King Faisal Specialist Hospital and Research Center
Co-authored papers 4
Children's Hospital of Philadelphia
Co-authored papers 3
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Perth Children's Hospital
Co-authored papers 3
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Royal Women's Hospital
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King Edward Memorial Hospital
Co-authored papers 3
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Harry Perkins Institute of Medical Research, University of Western Australia
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Institute for Genomic Statistics and Bioinformatics, University of Bonn
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University of Manchester
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