Tony Roscioli

Tony Roscioli

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Tony Roscioli

Tony Roscioli

Publications by authors named "Tony Roscioli"

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Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.

Neuropediatrics 2019 Nov 28. Epub 2019 Nov 28.

Laboratory of Neurogenetics and Neuroinflammation, Sorbonne-Paris-Cité, Institut Imagine, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1055/s-0039-3400979DOI Listing
November 2019

Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.

Am J Med Genet A 2019 Oct 19;179(10):2152-2157. Epub 2019 Jul 19.

Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.61295DOI Listing
October 2019

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.

Am J Med Genet A 2019 Aug 7;179(8):1585-1590. Epub 2019 Jun 7.

Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.61200DOI Listing
August 2019

Response to Suthers and Mina.

Genet Med 2019 05 16;21(5):1258. Epub 2018 Oct 16.

Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, NSW, Australia.

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http://dx.doi.org/10.1038/s41436-018-0318-8DOI Listing
May 2019

Personal genomic screening: How best to facilitate preparedness of future clients.

Eur J Med Genet 2019 May 11;62(5):397-404. Epub 2019 May 11.

University of Sydney, Northern Clinical School, Faculty of Medicine and Health, St Leonards, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.05.006DOI Listing
May 2019

User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.

J Genet Couns 2019 Apr 14;28(2):240-250. Epub 2018 Dec 14.

Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, Sydney, NSW, 2031, Australia.

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http://doi.wiley.com/10.1007/s10897-018-0298-5
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http://dx.doi.org/10.1007/s10897-018-0298-5DOI Listing
April 2019

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.

Cerebellum 2019 Feb;18(1):137-146

Department of Neurogenetics, Kolling Institute, University of Sydney and Northern Sydney Local Health District, St Leonards, Australia.

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http://dx.doi.org/10.1007/s12311-018-0969-7DOI Listing
February 2019

Seave: a comprehensive web platform for storing and interrogating human genomic variation.

Bioinformatics 2019 01;35(1):122-125

Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.

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https://academic.oup.com/bioinformatics/article/35/1/122/504
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http://dx.doi.org/10.1093/bioinformatics/bty540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298057PMC
January 2019

User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.

J Genet Couns 2018 Sep 5. Epub 2018 Sep 5.

Centre for Clinical Genetics, Sydney Children's Hospital, High St., Randwick, Sydney, NSW, 2031, Australia.

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http://dx.doi.org/10.1007/s10897-018-0298-5DOI Listing
September 2018

Atypical Skin Manifestations in -Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum.

Mol Syndromol 2018 May 24;9(3):149-153. Epub 2018 Apr 24.

Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, SA, Australia.

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http://dx.doi.org/10.1159/000488439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006653PMC
May 2018

Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.

Neural Plast 2017 28;2017:6509493. Epub 2017 May 28.

Department of Paediatric Neurology, Sydney Children's Hospital, Randwick, NSW, Australia.

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http://dx.doi.org/10.1155/2017/6509493DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467325PMC
March 2018

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Cell 2018 02;172(5):924-936.e11

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2018.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832058PMC
February 2018

Prioritising the application of genomic medicine.

NPJ Genom Med 2017 21;2:35. Epub 2017 Nov 21.

Garvan Institute of Medical Research, Sydney, NSW 2010 Australia.

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http://dx.doi.org/10.1038/s41525-017-0037-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5698310PMC
November 2017

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.

Cell Rep 2017 Oct;21(4):926-933

Pharmacology and Toxicology, University at Buffalo - The State University of New York, Buffalo, NY 14214, USA; Program for Neuroscience, University at Buffalo - The State University of New York, Buffalo, NY 14214, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2017.09.088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687820PMC
October 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

J Inherit Metab Dis 2017 03 19;40(2):261-269. Epub 2016 Dec 19.

Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, KRI, Level 3, Locked Bag 4001, Westmead, NSW, 2145, Australia.

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http://dx.doi.org/10.1007/s10545-016-0010-6DOI Listing
March 2017

Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing.

J Neurol Neurosurg Psychiatry 2016 12 14;87(12):1384-1385. Epub 2016 Jun 14.

School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1136/jnnp-2016-313812DOI Listing
December 2016

Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications.

Brain 2016 12 6;139(Pt 12):e67. Epub 2016 Aug 6.

1 Department of Neurology, Sydney Children's Hospital, Sydney, Australia.

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http://dx.doi.org/10.1093/brain/aww174DOI Listing
December 2016

Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia.

Neurology 2016 Jul 8;87(1):65-70. Epub 2016 Jun 8.

From the Molecular Medicine Laboratory (M.S., G.N.), Neurology Department (J.L.), ANZAC Research Institute (G.N.), and NSW Health Pathology (G.N.), Concord Hospital (S.R.); Departments of Neurology (H.T., H.S., M.F.) and Genetics (T.R.), Sydney Children's Hospital; Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine (H.T., H.S., M.F.), and St Vincent's Clinical School (T.R.), The University of New South Wales, Sydney; Kolling Institute (Y.Z.), Royal North Shore Hospital, Newcastle GOLD Service, Hunter Genetics, Waratah; SEALS Haematology and Genetics Laboratory (M.B.), Prince of Wales Hospital, Sydney; Kinghorn Centre for Clinical Genomics (T.R.); and Sydney Medical School (G.N.), University of Sydney, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000002813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932233PMC
July 2016

Muenke syndrome: An international multicenter natural history study.

Am J Med Genet A 2016 Apr 6;170A(4):918-29. Epub 2016 Jan 6.

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37528DOI Listing
April 2016

The promise of personalised medicine.

Lancet 2016 Jan;387(10017):433-4

Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(16)00176-8DOI Listing
January 2016

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

Mol Genet Metab 2015 Nov 14;116(3):178-86. Epub 2015 Aug 14.

Sydney Children's Hospital, High Street Randwick NSW 2031, Australia; University of New South Wales, High Street, Sydney, NSW 2052, Australia; Seals Molecular Genetics, POW Hospital Campus, Barker Street, Randwick, Sydney, NSW 2031, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153004
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http://dx.doi.org/10.1016/j.ymgme.2015.08.007DOI Listing
November 2015

Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant.

J Clin Immunol 2015 Oct 3;35(7):604-9. Epub 2015 Oct 3.

Department of Immunology and Infectious Diseases, Sydney Children's Hospital, Randwick, Australia.

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http://dx.doi.org/10.1007/s10875-015-0194-9DOI Listing
October 2015

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

Neurology 2015 May 1;84(21):2177-82. Epub 2015 May 1.

From the Department of Neurology (M.R., D.J.L., M.A.W.), Translational Metabolic Laboratory, Department of Laboratory Medicine (M.R., D.J.L., R.A.W.), Department of Human Genetics, Radboud Institute for Molecular Life Sciences (M.R., E.v.B., T.R., L.E.V., H.v.B.), and Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour (H.v.B.), Radboud University Medical Center, Nijmegen, the Netherlands; Metabolic Unit, Department of Pediatrics (H.M.), and Institute of Human Genetics (R.G.-B.), Rambam Health Care Campus, and the Rappaport Faculty of Medicine, Techion-Israel Institute of Technology, Haifa; Department of Human Genetics (I.G.), Leiden University Medical Center, the Netherlands; Department of Medical Genetics (T.R.), Sydney Children's Hospital, University of New South Wales, Sydney, Australia; Department of Diagnostic Imaging (A.E.), Rambam Health Care Campus, Haifa; and Department of Molecular Genetics (M.G., S.P.), Weizmann Institute of Science, Rehovot, Israel.

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http://dx.doi.org/10.1212/WNL.0000000000001615DOI Listing
May 2015

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.

J Med Genet 2013 Dec 17;50(12):848-58. Epub 2013 Oct 17.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2013-101774DOI Listing
December 2013

Genomic approaches for studying craniofacial disorders.

Am J Med Genet C Semin Med Genet 2013 Nov 18;163C(4):218-31. Epub 2013 Oct 18.

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http://dx.doi.org/10.1002/ajmg.c.31379DOI Listing
November 2013

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.

Mol Genet Genomic Med 2013 Nov 19;1(4):223-37. Epub 2013 Aug 19.

Center for Molecular Medicine Cologne (CMMC), University of Cologne 50931, Cologne, Germany ; Institute of Human Genetics, University of Cologne 50931, Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne 50931, Cologne, Germany.

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http://dx.doi.org/10.1002/mgg3.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865590PMC
November 2013

The role of hematopoietic stem cell transplantation in SP110 associated veno-occlusive disease with immunodeficiency syndrome.

Pediatr Allergy Immunol 2013 May 1;24(3):250-6. Epub 2013 Mar 1.

Department of Pediatrics, Hadassah University Hospital, Jerusalem, Israel.

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http://dx.doi.org/10.1111/pai.12051DOI Listing
May 2013

Hepatic veno-occlusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110.

Clin Immunol 2012 Nov 7;145(2):102-7. Epub 2012 Aug 7.

Division of General Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine, University Southern California, 4650 West Sunset Boulevard, Los Angeles, CA 90027, USA.

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http://dx.doi.org/10.1016/j.clim.2012.07.016DOI Listing
November 2012

Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1.

FEBS Lett 2012 May 20;586(10):1516-21. Epub 2012 Apr 20.

Section of Genetics, Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA 95817, USA.

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http://dx.doi.org/10.1016/j.febslet.2012.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3372856PMC
May 2012

B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.

J Pediatr 2011 Dec 13;159(6):1041-3.e2. Epub 2011 Sep 13.

Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.jpeds.2011.08.007DOI Listing
December 2011

Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome?

Am J Med Genet A 2011 Jan;155A(1):233-4

Murdoch Childrens Research Institute, Royal Children's Hospital, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.33776DOI Listing
January 2011

Generalized arterial calcification of infancy: treatment with bisphosphonates.

Nat Clin Pract Endocrinol Metab 2009 Mar;5(3):167-72

Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Westmead, Australia.

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http://dx.doi.org/10.1038/ncpendmet1067DOI Listing
March 2009

Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation.

Clin Dysmorphol 2008 Jul;17(3):223-4

Sydney South West Genetic Service, SEALS Molecular and Cytogenetics Laboratory, Sydney, NSW, Australia.

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http://dx.doi.org/10.1097/MCD.0b013e3282fdcc86DOI Listing
July 2008

Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis.

J Craniofac Surg 2007 Mar;18(2):312-4

Australian Craniofacial Unit, Women's and Children's Hospital, North Adelaide, and the University of Adelaide, Dental School, South Australia, Australia.

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http://dx.doi.org/10.1097/scs.0b013e31802d6e76DOI Listing
March 2007

Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome.

J Craniofac Surg 2007 Jan;18(1):39-42

Oculoplastic and Orbital Division, Department of Ophthalmology and Visual Science, University of Adelaide, Adelaide, South Australia.

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http://dx.doi.org/10.1097/01.scs.0000249358.74343.70DOI Listing
January 2007

The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation.

Australas J Dermatol 2006 Nov;47(4):274-6

Department of Dermatology, Liverpool Hospital, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.1440-0960.2006.00294.xDOI Listing
November 2006

A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.

Clin Dysmorphol 2006 Apr;15(2):89-93

Queensland Clinical Genetics Service, Royal Children's Hospital, Herston, Brisbane 4029, Queensland, Australia.

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http://dx.doi.org/10.1097/01.mcd.0000194407.92676.9dDOI Listing
April 2006

Analysis of intracranial volume in apert syndrome genotypes.

Pediatr Neurosurg 2004 Jul-Aug;40(4):161-4

Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide, Australia.

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http://dx.doi.org/10.1159/000081933DOI Listing
February 2005

The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.

Am J Med Genet A 2004 Jan;124A(2):136-41

Queensland Clinical Genetics Service, Herston, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/ajmg.a.20348DOI Listing
January 2004

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.

Am J Med Genet A 2003 Jul;120A(2):157-68

Department of Surgery, University of Queensland, Royal Brisbane Hospital, Herston Hospitals Campus, Brisbane, Australia.

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http://dx.doi.org/10.1002/ajmg.a.20012DOI Listing
July 2003