부산대학교 도서관

Bennett, Mark F; Corbett, Mark A; Kroes, Thessa; Canafoglia, Laura; Oliver, Karen L; Cameron, Jillian M; Sikta, Neblina; Munro, Jacob; Fearnley, Liam G; Ibañez, Kristina

Brain Communications; 2025, Vol. 7 Issue 6, p1-11, 11p

Shepherdson, James L; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A; Amor, David J; Banka, Siddharth; Basel, Donald G; Buch, Laura D; Carere, Deanna Alexis; Carroll, Renée; Clayton-Smith, Jill; Crawford, Ali; Dunø, Morten; Faivre, Laurence; Gilfillan, Christopher P; Gold, Nina B; Gripp, Karen W; Hobson, Emma; Holtz, Alexander M; Innes, A Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Amel Riazat Kesh, Leila; Genomics England Research Consortium; Küry, Sébastien; Lecoquierre, François; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Németh, Andrea H; Østergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E; Schnur, Rhonda E; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P; Wadman, Erin; Wakeling, Emma; White, Susan M; Wong, Lawrence C; Lupski, James R; Lichtarge, Olivier; Corbett, Mark A; Gecz, Jozef; Nicolet, Charles M; Farnham, Peggy J; Kim, Cheol-Hee; Shinawi, Marwan

Genomics England Research Consortium 2024, 'Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt', American Journal of Human Genetics, vol. 111, no. 3, pp. 487-508. https://doi.org/10.1016/j.ajhg.2024.01.007

Berry JG; Robinson Research Institute, The University of Adelaide, SA, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia.; Taranath A; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia; Department of Medical Imaging, South Australia Medical Imaging (SAMI), Women's and Children's Hospital, Adelaide, SA, Australia.; Goetti R; Faculty of Medicine and Health, The University of Sydney, NSW, Australia; Department of Medical Imaging, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Farrar MA; Sydney Children's Hospital and Discipline of Paediatrics, School of Clinical Medicine, UNSW Medicine and Health, University of New South Wales (UNSW), Sydney, NSW, Australia.; Fiori S; Neuroscience and Medical Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy; Neurofarba Department, University of Florence, Florence, Italy.; Pham HD; School of Public Health, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.; Mittinty MN; School of Public Health, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia; College of Medicine and Public Health, Flinders University, Adelaide, SA, Australia.; Corbett MA; Robinson Research Institute, The University of Adelaide, SA, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia.; Palmer LJ; Robinson Research Institute, The University of Adelaide, SA, Australia; School of Public Health, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.; Fornarino DL; Robinson Research Institute, The University of Adelaide, SA, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia.; Harper K; Robinson Research Institute, The University of Adelaide, SA, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia.; Gibson CS; Paediatric Rehabilitation Department, Women's and Children's Hospital, Adelaide, SA, Australia.; Leishman SJ; Queensland Cerebral Palsy and Rehabilitation Research Centre, Faculty of Health, Medicine and Behavioural Sciences, The University of Queensland, Brisbane, Australia.; Goldsmith SC; Cerebral Palsy Alliance Research Institute, Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, NSW, Australia.; McIntyre SJ; Cerebral Palsy Alliance Research Institute, Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, NSW, Australia.; Montgomerie A; Robinson Research Institute, The University of Adelaide, SA, Australia; School of Public Health, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.; Pilkington RM; Robinson Research Institute, The University of Adelaide, SA, Australia; School of Public Health, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.; Lynch JW; Robinson Research Institute, The University of Adelaide, SA, Australia; School of Public Health, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.; Russo RN; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia; Paediatric Rehabilitation Department, Women's and Children's Hospital, Adelaide, SA, Australia.; Fahey MC; Department of Paediatrics, Monash University, Melbourne, VIC, Australia.; Fripp J; The Australian eHealth Research Centre, CSIRO, Brisbane, QLD, Australia.; Boyd RN; Queensland Cerebral Palsy and Rehabilitation Research Centre, Faculty of Health, Medicine and Behavioural Sciences, The University of Queensland, Brisbane, Australia.; Wright MJ; Queensland Cerebral Palsy and Rehabilitation Research Centre, Faculty of Health, Medicine and Behavioural Sciences, The University of Queensland, Brisbane, Australia.; Rice JE; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia; Paediatric Rehabilitation Department, Women's and Children's Hospital, Adelaide, SA, Australia.; Waugh MC; Sydney Children's Hospital and Discipline of Paediatrics, School of Clinical Medicine, UNSW Medicine and Health, University of New South Wales (UNSW), Sydney, NSW, Australia; Kids Rehab, The Children's Hospital at Westmead, Sydney, NSW, Australia.; MacLennan AH; Robinson Research Institute, The University of Adelaide, SA, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia.; Gecz J; Robinson Research Institute, The University of Adelaide, SA, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia.; van Eyk CL; Robinson Research Institute, The University of Adelaide, SA, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia. Electronic address: clare.vaneyk@adelaide.edu.au.

Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

McRae HM; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Leong MPY; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Bergamasco MI; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Garnham AL; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Hu Y; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Corbett MA; Robinson Research Institute and Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Whitehead L; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; El-Saafin F; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Sheikh BN; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Wilcox S; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Hannan AJ; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.; Department of Anatomy and Physiology, University of Melbourne, Parkville, Victoria, Australia.; Gécz J; Robinson Research Institute and Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.; Smyth GK; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; School of Mathematics and Statistics, The University of Melbourne, Parkville, Victoria, Australia.; Thomas T; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Voss AK; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Chey YCJ; School of Biomedicine and Robinson Research Institute, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.; Genome Editing Program, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, SA, Australia.; Corbett MA; Adelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.; Arudkumar J; School of Biomedicine and Robinson Research Institute, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.; Genome Editing Program, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, SA, Australia.; Piltz SG; School of Biomedicine and Robinson Research Institute, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.; Genome Editing Program, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, SA, Australia.; South Australian Genome Editing (SAGE) Facility, SAHMRI, Adelaide, SA, Australia.; Thomas PQ; School of Biomedicine and Robinson Research Institute, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia. paul.thomas@adelaide.edu.au.; Genome Editing Program, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, SA, Australia. paul.thomas@adelaide.edu.au.; South Australian Genome Editing (SAGE) Facility, SAHMRI, Adelaide, SA, Australia. paul.thomas@adelaide.edu.au.; Adikusuma F; School of Biomedicine and Robinson Research Institute, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia. fatwa.adikusuma@adelaide.edu.au.; Genome Editing Program, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, SA, Australia. fatwa.adikusuma@adelaide.edu.au.

Publisher: BioMed Central Country of Publication: England NLM ID: 101190720 Publication Model: Electronic Cited Medium: Internet ISSN: 1741-7007 (Electronic) Linking ISSN: 17417007 NLM ISO Abbreviation: BMC Biol Subsets: MEDLINE

Heron, Sarah E; Regan, Brigid M; Harris, Rebekah V; Gardner, Alison E; Coleman, Matthew J; Bennett, Mark F; Grinton, Bronwyn E; Helbig, Katherine L; Sperling, Michael R; Haut, Sheryl; Geller, Eric B; Widdess-Walsh, Peter; Pelekanos, James T; Bahlo, Melanie; Petrovski, Slavé; Heinzen, Erin L; Hildebrand, Michael S; Corbett, Mark A; Scheffer, Ingrid E; Gécz, Jozef

Neurology. 5/4/2021, Vol. 96 Issue 18, pe2251-e2260. 10p.

Ahmed, Raies; Sarwar, Shihab; Hu, Jinghua; Cardin, Valérie; Qiu, Lily R; Zapata, Gerardo; Vandeleur, Lucianne; Yan, Keqin; Lerch, Jason P; Corbett, Mark A; Gecz, Jozef; Picketts, David J

Human Molecular Genetics; Apr2021, Vol. 30 Issue 7, p575-594, 20p

Dibbens, Leanne M; de Vries, Boukje; Donatello, Simona; Heron, Sarah E; Hodgson, Bree L; Chintawar, Satyan; Crompton, Douglas E; Hughes, James N; Bellows, Susannah T; Klein, Karl Martin; Callenbach, Petra M C; Corbett, Mark A; Gardner, Alison E; Kivity, Sara; Iona, Xenia; Regan, Brigid M; Weller, Claudia M; Crimmins, Denis; O'Brien, Terence J; Guerrero-López, Rosa

Nature Genetics. May2013, Vol. 45 Issue 5, p546-551. 6p. 1 Black and White Photograph, 1 Diagram, 1 Chart, 1 Graph.

Morgan AT; Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia.; Scerri TS; Murdoch Children's Research Institute, Parkville 3052, Australia.; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.; Vogel AP; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia.; Centre for Neuroscience of Speech, The University of Melbourne, Parkville 3053, Australia.; Clinical Trials, Redenlab Inc., Melbourne 3000, Australia.; Reid CA; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.; Quach M; Department of Neuroscience, Central Clinical School, Monash University, Melbourne 3004, Australia.; Jackson VE; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.; McKenzie C; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.; Burrows EL; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.; Bennett MF; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.; Turner SJ; Murdoch Children's Research Institute, Parkville 3052, Australia.; Reilly S; Murdoch Children's Research Institute, Parkville 3052, Australia.; Menzies Health Institute Queensland, Griffith University, 4215 Southport, Australia.; Horton SE; Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia.; Block S; Discipline of Speech Pathology, School of Allied Health, La Trobe University, Bundoora 3086, Australia.; Kefalianos E; Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia.; Frigerio-Domingues C; Laboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-2320, USA.; Sainz E; Laboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-2320, USA.; Rigbye KA; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.; Featherby TJ; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.; Richards KL; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.; Kueh A; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.; Herold MJ; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.; Corbett MA; Adelaide Medical School, The University of Adelaide, Adelaide 5000, Australia.; Neurogenetics Research Program, South Australian Health and Medical Research Institute, Adelaide 5000, Australia.; Gecz J; Adelaide Medical School, The University of Adelaide, Adelaide 5000, Australia.; Neurogenetics Research Program, South Australian Health and Medical Research Institute, Adelaide 5000, Australia.; Helbig I; Department of Neurology, Children's Hospital, Philadelphia, PA 19104, USA.; Thompson-Lake DGY; Developmental Neurosciences Department, UCL Great Ormond Street Institute of Child Health, London, UK.; Liégeois FJ; Developmental Neurosciences Department, UCL Great Ormond Street Institute of Child Health, London, UK.; Morell RJ; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.; Genomics and Computational Biology Core, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.; Hung A; School of Science, STEM College, RMIT University, Melbourne 3001, Australia.; Drayna D; Laboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-2320, USA.; Scheffer IE; Murdoch Children's Research Institute, Parkville 3052, Australia.; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville 3052, Australia.; Wright DK; Department of Neuroscience, Central Clinical School, Monash University, Melbourne 3004, Australia.; Bahlo M; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.; School of Mathematics and Statistics, University of Melbourne, 3010 Parkville, Australia.; Hildebrand MS; Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

van der Sanden B; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.; Neveling K; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.; Shukor S; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA.; Gallagher MD; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA.; Lee J; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA.; Burke SL; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA.; Pennings M; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.; van Beek R; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.; Oorsprong M; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.; Kater-Baats E; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.; Kamping E; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.; Tieleman AA; Department of Neurology, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.; Voermans NC; Department of Neurology, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, VIC 3084, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, VIC 3052, Melbourne, Australia.; Gecz J; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.; Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, SA 5000, Australia.; Corbett MA; Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, SA 5000, Australia.; Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.; Pang AWC; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA.; Hastie A; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA.; Kamsteeg EJ; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; erik-jan.kamsteeg@radboudumc.nl alexander.hoischen@radboudumc.nl.; Hoischen A; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; erik-jan.kamsteeg@radboudumc.nl alexander.hoischen@radboudumc.nl.; Department of Internal Medicine, Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.

Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

Pham, Ryan; Mol, Ben W; Gecz, Jozef; MacLennan, Alastair H; MacLennan, Suzanna C; Corbett, Mark A; Eyk, Clare L; Webber, Dani L; Palmer, Lyle J; Berry, Jesia G; van Eyk, Clare L

Developmental Medicine & Child Neurology. Sep2020, Vol. 62 Issue 9, p1024-1030. 7p.

Ha TT; School of Biological Sciences, Faculty of Science, University of Adelaide, Adelaide, SA 5005, Australia.; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, SA 5000, Australia.; Burgess R; Epilepsy Research Centre, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.; Newman M; Alzheimer's Disease Genetics Laboratory, School of Biological Sciences, Faculty of Science, University of Adelaide, Adelaide, SA 5005, Australia.; Moey C; The Queensland Brain Institute, The School of Biomedical Sciences, Faculty of Medicine, The University of Queensland, Brisbane, QLD 4000, Australia.; Mandelstam SA; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC 3052, Australia.; Department of Medical Imaging, The Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Gardner AE; Adelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia.; Ivancevic AM; Department of Molecular, Cellular, and Developmental Biology, College of Arts and Sciences, University of Colorado, Boulder, CO 80309, USA.; Pham D; Adelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia.; Kumar R; Adelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia.; Smith N; Adelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia.; Department of Neurology, Women's and Children's Hospital, North Adelaide, SA 5006, Australia.; Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia.; Malone S; Queensland Children's Hospital, South Brisbane, QLD 4101, Australia.; Ryan MM; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC 3052, Australia.; Department of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia.; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.; Calvert S; Department of Neurosciences, Queensland Children's Hospital, South Brisbane, QLD 4101, Australia.; van Eyk CL; Adelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia.; Lardelli M; Alzheimer's Disease Genetics Laboratory, School of Biological Sciences, Faculty of Science, University of Adelaide, Adelaide, SA 5005, Australia.; Berkovic SF; Epilepsy Research Centre, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.; Leventer RJ; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC 3052, Australia.; Department of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia.; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.; Richards LJ; The Queensland Brain Institute, The School of Biomedical Sciences, Faculty of Medicine, The University of Queensland, Brisbane, QLD 4000, Australia.; Department of Neuroscience, School of Medicine, Washington University, St Louis, MO 63110, USA.; Scheffer IE; Epilepsy Research Centre, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC 3052, Australia.; Department of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia.; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.; Florey Institute of Neuroscience and Mental Health, Parkville, VIC 3052, Australia.; Gecz J; School of Biological Sciences, Faculty of Science, University of Adelaide, Adelaide, SA 5005, Australia.; Adelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.; Corbett MA; Adelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Corbett MA; Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Veneziano L; Institute of Translational Pharmacology, National Research Council, Rome, Italy.; Klein KM; Departments of Clinical Neurosciences, Medical Genetics, and Community Health Sciences, Hotchkiss Brain Institute and Alberta Children's Hospital, Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Center of Neurology and Neurosurgery, Center for Personalized Translational Epilepsy Research, University Hospital, Goethe University Frankfurt, Frankfurt am Main, Germany.; Brancati F; Institute of Translational Pharmacology, National Research Council, Rome, Italy.; Medical Genetics, Department of Life, Health, and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Laboratory of Human Functional Genomics, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele, Rome, Italy.; Guerrini R; Neuroscience and Neurogenetics Department, Meyer Children's Hospital, Florence, Italy.; Zara F; Laboratory of Neurogenetics, IRCCS Institute 'G. Gaslini', Genoa, Italy.; Tsuji S; Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.; Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan.; Gecz J; Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; van den Maagdenberg AMJM; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands.; Kühnel T; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Ishiura H; Department of Neurology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama, Japan.; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.; Corbett MA; Robinson Research Institute, University of Adelaide, Adelaide Medical School, Adelaide, South Australia, Australia.; Tsuji S; Department of Neurology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama, Japan.; Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Sandran NG; Neurogenetics Research Program, Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia; Australian Collaborative Cerebral Palsy Research Group, Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.; Fornarino DL; Neurogenetics Research Program, Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia; Australian Collaborative Cerebral Palsy Research Group, Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.; Corbett MA; Neurogenetics Research Program, Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia; Australian Collaborative Cerebral Palsy Research Group, Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.; Kroes T; Neurogenetics Research Program, Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.; Gardner AE; Neurogenetics Research Program, Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.; MacLennan AH; Australian Collaborative Cerebral Palsy Research Group, Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.; Gécz J; Neurogenetics Research Program, Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia; Australian Collaborative Cerebral Palsy Research Group, Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia; South Australian Health and Medical Research Institute, Adelaide, SA, Australia. Electronic address: jozef.gecz@adelaide.edu.au.; van Eyk CL; Neurogenetics Research Program, Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia; Australian Collaborative Cerebral Palsy Research Group, Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Khayat, Wujood; Hackett, Anna; Shaw, Marie; Ilie, Alina; Dudding-Byth, Tracy; Kalscheuer, Vera M; Christie, Louise; Corbett, Mark A; Juusola, Jane; Friend, Kathryn L; Kirmse, Brian M; Gecz, Jozef; Field, Michael; Orlowski, John

Human Molecular Genetics; 2/15/2019, Vol. 28 Issue 4, p598-614, 17p

Nicolas-Martinez EC; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; School of Biomedicine, University of Adelaide, Adelaide, SA 5005, Australia.; Robinson O; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; School of Biomedicine, University of Adelaide, Adelaide, SA 5005, Australia.; Pflueger C; Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia; Australian Research Council Centre of Excellence in Plant Energy Biology, School of Molecular Sciences, The University of Western Australia, Crawley, WA 6009, Australia; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia.; Gardner A; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia.; Corbett MA; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia.; Ritchie T; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia.; Kroes T; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia.; van Eyk CL; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC 3052, Australia.; Hildebrand MS; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC 3052, Australia; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia.; Barnier JV; Institut des Neurosciences Paris-Saclay, UMR 9197, CNRS, Université Paris-Saclay, Saclay, France.; Rousseau V; Institut des Neurosciences Paris-Saclay, UMR 9197, CNRS, Université Paris-Saclay, Saclay, France.; Genevieve D; Montpellier University, Inserm U1183, Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.; Haushalter V; Genetic Diagnosis Laboratory, Strasbourg University Hospital, Strasbourg, France.; Piton A; Genetic Diagnosis Laboratory, Strasbourg University Hospital, Strasbourg, France.; Denommé-Pichon AS; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', Centre de Génétique, CHU Dijon, Dijon, France; INSERM UMR1231, GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France.; Bruel AL; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', Centre de Génétique, CHU Dijon, Dijon, France; INSERM UMR1231, GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France.; Nambot S; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', Centre de Génétique, CHU Dijon, Dijon, France; INSERM UMR1231, GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France.; Isidor B; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', Centre de Génétique, CHU Dijon, Dijon, France; INSERM UMR1231, GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France.; Grigg J; Speciality of Ophthalmology, Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2000, Australia.; Gonzalez T; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, NSW 2065, Australia.; Ghedia S; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, NSW 2065, Australia.; Marchant RG; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2000, Australia.; Bournazos A; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Children's Medical Research Institute, Westmead, NSW 2145, Australia.; Wong WK; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Children's Medical Research Institute, Westmead, NSW 2145, Australia; Department of Paediatric Neurology, Children's Hospital at Westmead, Sydney, NSW 2000, Australia.; Webster RI; Department of Paediatric Neurology, Children's Hospital at Westmead, Sydney, NSW 2000, Australia.; Evesson FJ; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2000, Australia; Children's Medical Research Institute, Westmead, NSW 2145, Australia.; Jones KJ; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Children's Medical Research Institute, Westmead, NSW 2145, Australia; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2000, Australia.; Cooper ST; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2000, Australia; Children's Medical Research Institute, Westmead, NSW 2145, Australia.; Lister R; Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia; Australian Research Council Centre of Excellence in Plant Energy Biology, School of Molecular Sciences, The University of Western Australia, Crawley, WA 6009, Australia.; Gecz J; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address: jozef.gecz@adelaide.edu.au.; Jolly LA; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; School of Biomedicine, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address: lachlan.jolly@adelaide.edu.au.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Corbett MA; Newman DG

Publisher: Aerospace Medical Association Country of Publication: United States NLM ID: 101654770 Publication Model: Print Cited Medium: Internet ISSN: 2375-6322 (Electronic) Linking ISSN: 23756314 NLM ISO Abbreviation: Aerosp Med Hum Perform Subsets: MEDLINE

Claire C. Homan; Stephen Pederson; Thu-Hien To; Chuan Tan; Sandra Piltz; Mark A. Corbett; Ernst Wolvetang; Paul Q. Thomas; Lachlan A. Jolly; Jozef Gecz

Neurobiology of Disease, Vol 116, Iss, Pp 106-119 (2018)

Kumar R; Adelaide Medical School and the Robinson Research Institute, University of Adelaide, Adelaide, 5000, SA, Australia.; Corbett MA; Adelaide Medical School and the Robinson Research Institute, University of Adelaide, Adelaide, 5000, SA, Australia.; Smith NJC; Adelaide Medical School and the Robinson Research Institute, University of Adelaide, Adelaide, 5000, SA, Australia.; Department of Neurology, Women's and Children's Health Network, Adelaide, 5006, SA, Australia.; Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, 3052, VIC, Australia.; Kikhtyak Z; Dame Roma Mitchell Cancer Research Laboratories, Adelaide Medical School, University of Adelaide, Adelaide, 5000, SA, Australia.; Semcesen LN; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, 3052, VIC, Australia.; Morimoto A; Adelaide Medical School and the Robinson Research Institute, University of Adelaide, Adelaide, 5000, SA, Australia.; Lee S; Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Paediatrics, University of California, San Diego, 92093, CA, USA.; Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, 3052, VIC, Australia.; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, 3052, VIC, Australia.; Gleeson JG; Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Paediatrics, University of California, San Diego, 92093, CA, USA.; Haan EA; Adult Genetics Unit, Royal Adelaide Hospital and Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, 5000, SA, Australia.; Gecz J; Adelaide Medical School and the Robinson Research Institute, University of Adelaide, Adelaide, 5000, SA, Australia. jozef.gecz@adelaide.edu.au.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE