Zobrazeno 1 - 10
of 42
pro vyhledávání: '"MF Hunter"'
Autor:
CM Kraan, Baker, Emma, M Arpone, M Bui, L Ling, D Gamage, L Bretherton, C Rogers, MJ Field, TL Wotton, D Francis, MF Hunter, J Cohen, DJ Amor, DE Godler
© 2020 by the authors. Licensee MDPI, Basel, Switzerland. Fragile X syndrome (FXS) is a leading single-gene cause of intellectual disability (ID) with autism features. This study analysed diagnostic and prognostic utility of the Fragile X-Related Ep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca55a5d0d7d2801a60a71cc0c6b7ae3f
Autor:
Tan L; Monash Genetics, Monash Health, Melbourne, VIC, Australia. nobproftl49@hotmail.com.; Department of Paediatrics, Monash University, Melbourne, VIC, Australia. nobproftl49@hotmail.com., Young SG; The Murdoch Children's Research Institute, Melbourne, VIC, Australia., Sinclair AH; The Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, The University of Melbourne, Victoria, Australia., Hunter MF; Monash Genetics, Monash Health, Melbourne, VIC, Australia.; Department of Paediatrics, Monash University, Melbourne, VIC, Australia., Ayers KL; The Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, The University of Melbourne, Victoria, Australia.
Publikováno v:
BMC medical genomics [BMC Med Genomics] 2024 Aug 05; Vol. 17 (1), pp. 195. Date of Electronic Publication: 2024 Aug 05.
Autor:
Furley K; Department of Paediatrics, Monash University, Melbourne, Australia.; Monash Children's Hospital, Melbourne, Australia., Hunter MF; Department of Paediatrics, Monash University, Melbourne, Australia.; Monash Genetics, Monash Health, Melbourne, Australia., Fahey M; Department of Paediatrics, Monash University, Melbourne, Australia.; Monash Children's Hospital, Melbourne, Australia.; Neurology, Monash Health, Melbourne, Australia., Williams K; Department of Paediatrics, Monash University, Melbourne, Australia.; Monash Children's Hospital, Melbourne, Australia.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63607. Date of Electronic Publication: 2024 Mar 27.
Autor:
Dias KR; Neuroscience Research Australia, Sydney, NSW, Australia; Prince of Wales Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia., Shrestha R; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia., Schofield D; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia., Evans CA; Neuroscience Research Australia, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., O'Heir E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Zhu Y; Neuroscience Research Australia, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia; The Genetics of Learning Disability Service, Waratah, NSW, Australia., Zhang F; Neuroscience Research Australia, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Standen K; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Stenton SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Sanchis-Juan A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Ma A; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Specialty of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Ghedia S; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia; Northern Clinical School, Royal North Shore Hospital, Sydney, NSW, Australia., Wilson M; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Sandaradura SA; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Disciplines of Child and Adolescent Health and Genetic Medicine, University of Sydney, Sydney, NSW 2050, Australia., Smith J; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Specialty of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Kamien B; Genetic Services of Western Australia, Perth, WA, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia., Turner A; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia., Bakshi M; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia., Adès LC; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Disciplines of Child and Adolescent Health and Genetic Medicine, University of Sydney, Sydney, NSW 2050, Australia., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia., Regan M; Monash Genetics, Monash Health, Melbourne, VIC, Australia., McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Savarirayan R; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia., Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Pérez-Jurado LA; Genetics Unit, Universitat Pompeu Fabra, Institut Hospital del Mar d'Investigacions Mediques (IMIM), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain; Women's and Children's Hospital, South Australian Health and Medical Research Institute & University of Adelaide, Adelaide, SA, Australia., Krzesinski E; Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia., Hunter MF; Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia., Akesson L; Melbourne Pathology, Melbourne, VIC, Australia; Department of Pathology, The Royal Melbourne Hospital, Melbourne, VIC, Australia; Melbourne Medical School, University of Melbourne, Melbourne, VIC, Australia., Fennell AP; Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia., Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Boughtwood T; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia., Ewans LJ; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia., Kerkhof J; Verspeeten Clinical Genome Centre London Health Sciences Centre, London, ON, Canada., Lucas C; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Carey L; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., French H; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia., Rapadas M; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Stevanovski I; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia., Cliffe C; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Elakis G; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Kirk EP; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia., Dudding-Byth T; The Genetics of Learning Disability Service, Waratah, NSW, Australia., Fletcher J; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Walsh R; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Corbett MA; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia., Kroes T; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia., Gecz J; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia; South Australian Health and Medical Research Institute, Adelaide, SA, Australia., Meldrum C; State Wide Service, New South Wales Health Pathology, Sydney, NSW, Australia., Cliffe S; State Wide Service, New South Wales Health Pathology, Sydney, NSW, Australia., Wall M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., North K; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia; Global Alliance for Genomics and Health, Toronto, ON, Canada., Amor DJ; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Field M; The Genetics of Learning Disability Service, Waratah, NSW, Australia., Sadikovic B; Verspeeten Clinical Genome Centre London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Buckley MF; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Roscioli T; Neuroscience Research Australia, Sydney, NSW, Australia; Prince of Wales Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia. Electronic address: tony.roscioli@health.nsw.gov.au.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 May; Vol. 26 (5), pp. 101076. Date of Electronic Publication: 2024 Jan 19.
Autor:
Szot JO; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Cuny H; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, Sydney, New South Wales, Australia., Martin EM; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Sheng DZ; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Iyer K; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Portelli S; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia., Nguyen V; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Gereis JM; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Alankarage D; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Chitayat D; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and.; Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Chong K; Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Wentzensen IM; GeneDx, Gaithersburg, Maryland, USA., Vincent-Delormé C; Clinique de Génétique 'Guy Fontaine,' Hôpital Jeanne de Flandre, Lille, France., Lermine A; Laboratoire de Biologie Médicale Multisites SeqOIA, FMG2025, Paris, France., Burkitt-Wright E; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom., Ji W; Yale University School of Medicine, Pediatric Genomics Discovery Program, New Haven, Connecticut, USA., Jeffries L; Yale University School of Medicine, Pediatric Genomics Discovery Program, New Haven, Connecticut, USA., Pais LS; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia., Pitt J; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.; Metabolic Laboratory, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Wise CA; Department of Diagnostic Genomics, PathWest Laboratory Medicine Western Australia, Nedlands, Perth, Western Australia, Australia., Wright H; General Paediatric Department, Perth Children's Hospital, Perth, Western Australia, Australia.; Rural Clinical School, University of Western Australia, Perth, Western Australia, Australia., Andrews ID; Pinnacle Dermatology, Scottsdale, Arizona, USA., Pruniski B; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, USA., Grebe TA; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, USA., Corsten-Janssen N; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, Netherlands., Bouman K; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, Netherlands., Poulton C; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia., Prakash S; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, USA., Keren B; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Sorbonne Université, Paris, France., Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia., Hunter MF; Monash Genetics, Monash Health, Clayton, Victoria, Australia.; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Heath O; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia., Lakhani SA; Yale University School of Medicine, Pediatric Genomics Discovery Program, New Haven, Connecticut, USA., McDermott JH; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, United Kingdom., Ascher DB; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia., Chapman G; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, Sydney, New South Wales, Australia., Bozon K; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Dunwoodie SL; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, Sydney, New South Wales, Australia.; Faculty of Science, University of New South Wales, Sydney, New South Wales, Australia.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2024 Feb 15; Vol. 134 (4). Date of Electronic Publication: 2024 Feb 15.
Autor:
Furley K; Monash Children's Hospital, Melbourne, Australia; Department of Paediatrics, Monash University, Melbourne, Australia. Electronic address: kirsten.furley1@monash.edu., Mehra C; Children's Neurosciences, Evelina London Children's Hospital, St Thomas' Hospital, London, UK; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, UK., Goin-Kochel RP; Department of Pediatrics, Baylor College of Medicine, United States; Meyer Center for Developmental Pediatrics & Autism, Texas Children's Hospital, United States., Fahey MC; Monash Children's Hospital, Melbourne, Australia; Department of Paediatrics, Monash University, Melbourne, Australia., Hunter MF; Monash Children's Hospital, Melbourne, Australia; Department of Paediatrics, Monash University, Melbourne, Australia., Williams K; Monash Children's Hospital, Melbourne, Australia; Department of Paediatrics, Monash University, Melbourne, Australia., Absoud M; Children's Neurosciences, Evelina London Children's Hospital, St Thomas' Hospital, London, UK; Department of Women and Children's Health, King's College London, London, UK. Electronic address: Michael.Absoud@kcl.ac.uk.
Publikováno v:
Cortex; a journal devoted to the study of the nervous system and behavior [Cortex] 2023 Dec; Vol. 169, pp. 5-17. Date of Electronic Publication: 2023 Sep 27.
Autor:
Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics, Melbourne, Victoria, Australia., Bouffler SE; Australian Genomics, Melbourne, Victoria, Australia., Patel CV; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., Sandaradura SA; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.; Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia., Wilson M; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.; Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia., Pinner J; Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia.; Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia., Hunter MF; Monash Genetics, Monash Health, Melbourne, Victoria, Australia.; Department of Paediatrics, Monash University, Melbourne, Victoria, Australia., Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia., Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Tasmania, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia., Kamien B; Genetic Services of Western Australia, Perth, Western Australia, Australia., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia., Freckmann ML; Department of Clinical Genetics, The Canberra Hospital, Canberra, Australian Capital Territory, Australia., Chong B; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Phelan D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Francis D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Kassahn KS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia., Ha T; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia., Gao S; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Arts P; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia., Jackson MR; Australian Genomics, Melbourne, Victoria, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Scott HS; Australian Genomics, Melbourne, Victoria, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia., Eggers S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Rowley S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Boggs K; Australian Genomics, Melbourne, Victoria, Australia.; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.; Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia., Rakonjac A; Australian Genomics, Melbourne, Victoria, Australia.; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.; Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia., Brett GR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia., de Silva MG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Springer A; Monash Genetics, Monash Health, Melbourne, Victoria, Australia.; Department of Paediatrics, Monash University, Melbourne, Victoria, Australia., Ward M; Genetic Services of Western Australia, Perth, Western Australia, Australia., Stallard K; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Simons C; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Conway T; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Halman A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Van Bergen NJ; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Sikora T; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Semcesen LN; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia., Stroud DA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Compton AG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Thorburn DR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Bell KM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Sadedin S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., North KN; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Christodoulou J; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics, Melbourne, Victoria, Australia.; Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au.; Australian Genomics, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au.
Publikováno v:
Nature medicine [Nat Med] 2023 Jul; Vol. 29 (7), pp. 1681-1691. Date of Electronic Publication: 2023 Jun 08.
Autor:
Baker EK; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Victoria, Australia.; School of Psychology and Public Health, La Trobe University, Bundoora, Victoria, Australia., Arpone M; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Victoria, Australia.; Brain and Mind, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia., Bui M; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia., Kraan CM; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Victoria, Australia., Ling L; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia., Francis D; Victorian Clinical Genetics Services and Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Victoria, Australia., Hunter MF; Monash Genetics, Monash Health, Clayton, Victoria, Australia.; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Rogers C; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia., Field MJ; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia., Santa María L; Molecular and Cytogenetics Laboratory, INTA University of Chile, Santiago, Chile., Faundes V; Molecular and Cytogenetics Laboratory, INTA University of Chile, Santiago, Chile., Curotto B; Molecular and Cytogenetics Laboratory, INTA University of Chile, Santiago, Chile., Morales P; Molecular and Cytogenetics Laboratory, INTA University of Chile, Santiago, Chile., Trigo C; Molecular and Cytogenetics Laboratory, INTA University of Chile, Santiago, Chile., Salas I; Molecular and Cytogenetics Laboratory, INTA University of Chile, Santiago, Chile., Alliende AM; Molecular and Cytogenetics Laboratory, INTA University of Chile, Santiago, Chile., Amor DJ; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Victoria, Australia.; Neurodisability and Rehabilitation, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia., Godler DE; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Victoria, Australia.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Feb; Vol. 191 (2), pp. 357-369. Date of Electronic Publication: 2022 Nov 08.
Autor:
Arpone M; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, Australia; Brain and Mind, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia., Bretherton L; Brain and Mind, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia., Amor DJ; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, Australia; Neurodisability and Rehabilitation, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia., Hearps SJC; Brain and Mind, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia; Department of Critical Care, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, Australia., Rogers C; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia., Field MJ; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia., Hunter MF; Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia., Santa Maria L; Laboratory of Molecular Cytogenetics, Department of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile., Alliende AM; Laboratory of Molecular Cytogenetics, Department of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile., Slee J; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, Australia., Godler DE; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, Australia., Baker EK; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, Australia; School of Psychology and Public Health, La Trobe University, Bundoora, VIC, Australia. Electronic address: emma.baker@mcri.edu.au.
Publikováno v:
Research in developmental disabilities [Res Dev Disabil] 2022 Dec; Vol. 131, pp. 104338. Date of Electronic Publication: 2022 Sep 28.
Autor:
Fennell AP; Monash Genetics, Monash Health, Melbourne, Australia.; Clinical Genetics Service, Austin Health, Melbourne, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia., Baxter AE; Hunter Genetics, Hunter New England Health Service, Newcastle, Australia., Berkovic SF; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia., Ellaway CJ; Paediatrics North, Sydney, Australia.; Genetic Metabolic Disorders Service, The Sydney Children's Hospital Network, Sydney, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia., Forwood C; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia., Hildebrand MS; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia.; Murdoch Children's Research Institute, Melbourne, Australia., Kumble S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., McKeown C; Genetic Health Service New Zealand, Wellington Hospital, Wellington, New Zealand., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia., Poke G; Genetic Health Service New Zealand, Wellington Hospital, Wellington, New Zealand., Rajagopalan S; Department of Clinical Genetics, Liverpool Hospital, Sydney, Australia., Regan BM; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia., Scheffer IE; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia.; The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia., Stutterd CA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia., Wilkins EJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia., Hunter MF; Monash Genetics, Monash Health, Melbourne, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3432-3447. Date of Electronic Publication: 2022 Aug 17.