부산대학교 도서관

Byrne AB; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Arts P; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Ha TT; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Kassahn KS; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Pais LS; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Donnell-Luria A; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Childrens Hospital, Boston, MA, USA.; Babic M; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Frank MSB; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Feng J; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Wang P; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Lawrence DM; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Eshraghi L; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Arriola L; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Toubia J; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Nguyen H; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Royal Women's Hospital, Melbourne, Victoria, Australia.; Pinner J; Centre for Clinical Genetics, Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of NSW, Sydney, New South Wales, Australia.; McKenzie F; Genetic Services of Western Australia, Perth, Western Australia, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia.; Morrow R; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Lipsett J; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Manton N; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Khong TY; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Moore L; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Liebelt JE; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Repromed, Dulwich, South Australia, Australia.; Schreiber AW; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia.; King-Smith SL; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics, Parkville, Victoria, Australia.; Hardy TSE; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Repromed, Dulwich, South Australia, Australia.; Jackson MR; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics, Parkville, Victoria, Australia.; Barnett CP; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia. christopher.barnett@sa.gov.au.; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia. christopher.barnett@sa.gov.au.; Scott HS; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; Australian Genomics, Parkville, Victoria, Australia. hamish.scott@sa.gov.au.

Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: PubMed not MEDLINE; MEDLINE

Wardell DW; Rozmus C; The University of Texas Health Science Center at Houston, TX, USA.; Pinner J; Saybrook University, Pasadena, CA, USA.

Publisher: Sage Publications Country of Publication: United States NLM ID: 8506709 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-5724 (Electronic) Linking ISSN: 08980101 NLM ISO Abbreviation: J Holist Nurs

Forwood C; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Australia.; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.; Ashton K; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Zhu Y; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Zhang F; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Dias KR; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.; Standen K; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Evans CA; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.; Carey L; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Cardamone M; Sydney Children's Hospital, Randwick, Australia.; School of Women's and Children's Health, UNSW, Sydney, Australia.; Shalhoub C; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Australia.; Katf H; Sydney Children's Hospital, Randwick, Australia.; Riveros C; Bioinformatics, Hunter Medical Research Institute, Newcastle, Australia.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany.; Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany.; Robinson PN; JAX Center for Precision Genetics, The JAX Cancer Center, Farmington, Connecticut, USA.; Dudding-Byth T; Genetics of Learning Disability (GoLD) Service, Waratah, Australia.; Sadikovic B; London Health Sciences Centre, Verspeeten Clinical Genome Centre, Western University, London, Canada.; Pinner J; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Australia.; School of Women's and Children's Health, UNSW, Sydney, Australia.; Buckley MF; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Roscioli T; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.; School of Clinical Medicine, UNSW, Sydney, Australia.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Hosie PH; Department of Neurology, Sydney Children's Hospital, Randwick, Australia.; Lim C; Rehab2Kids, Sydney Children's Hospital, Randwick, Australia.; Scott TRD; Rehab2Kids, Sydney Children's Hospital, Randwick, Australia; Discipline of Pediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Australia; Graduate School of Biomedical Engineering, UNSW Sydney, Australia.; Cardamone M; Department of Neurology, Sydney Children's Hospital, Randwick, Australia; Discipline of Pediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Australia.; Farrar MA; Department of Neurology, Sydney Children's Hospital, Randwick, Australia; Discipline of Pediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Australia.; Frith C; Department of Immunology and Infectious Diseases, Sydney Children's Hospital, Randwick, Australia.; Andrews PI; Department of Neurology, Sydney Children's Hospital, Randwick, Australia.; Pinner J; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Australia.; Pillai S; Department of Neurology, Sydney Children's Hospital, Randwick, Australia; Discipline of Pediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Australia. Electronic address: sekhar.pillai@health.nsw.gov.au.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE

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.

Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Lim PJ; Connective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.; Marcionelli G; Connective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.; Srikanthan P; Department of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Ndarugendamwo T; Connective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.; Pinner J; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia.; UNSW Medicine and Health, University of New South Wales, Sydney, Australia.; Rohrbach M; Connective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.; Giunta C; Connective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.

Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

Oliver KL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.; Trivisano M; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, full member of European Reference Network EpiCARE, Rome, Italy.; Mandelstam SA; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.; Department of Radiology, Royal Children's Hospital, Melbourne, Victoria, Australia.; De Dominicis A; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, full member of European Reference Network EpiCARE, Rome, Italy.; Department of Biomedicine and Prevention, University of Rome 'Tor Vergata', Rome, Italy.; Francis DI; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Green TE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Muir AM; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Chowdhary A; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Hertzberg C; Zentrum für Sozialpädiatrie und Neuropädiatrie (DBZ), Vivantes Hospital Neukoelln, Berlin, Germany.; Goldhahn K; Department of Pediatrics and Neuropediatrics, DRK Klinikum Westend, Berlin, Germany.; Metreau J; Department of Pediatric Neurology, Hôpital Bicêtre, Assistance Publique Hopitaux de Paris, Le Kremlin-Bicêtre, France.; Prager C; Center for Chronically Sick Children (SPZ), Charité-Universitätsmedizin Berlin, Berlin, Germany.; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Pinner J; Sydney Children's Hospital, Randwick, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.; Cardamone M; Sydney Children's Hospital, Randwick, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.; Myers KA; Division of Child Neurology, Department of Pediatrics, McGill University, Montreal, Quebec, Canada.; Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada.; Leventer RJ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Lesca G; Department of Medical Genetics, Lyon University Hospital, Université Claude Bernard Lyon 1, member of the European Reference Network EpiCARE, Lyon, France.; Bahlo M; Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.; Hildebrand MS; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Mefford HC; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.; Kaindl AM; Center for Chronically Sick Children (SPZ), Charité-Universitätsmedizin Berlin, Berlin, Germany.; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Specchio N; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, full member of European Reference Network EpiCARE, Rome, Italy.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, 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

Byrne AB; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Arts P; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Ha TT; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Kassahn KS; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Pais LS; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Donnell-Luria A; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Childrens Hospital, Boston, MA, USA.; Babic M; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Frank MSB; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Feng J; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Wang P; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Lawrence DM; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Eshraghi L; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Arriola L; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Toubia J; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Nguyen H; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Royal Women's Hospital, Melbourne, Victoria, Australia.; Pinner J; Centre for Clinical Genetics, Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of NSW, Sydney, New South Wales, Australia.; McKenzie F; Genetic Services of Western Australia, Perth, Western Australia, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia.; Morrow R; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Lipsett J; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Manton N; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Khong TY; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Moore L; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Liebelt JE; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Repromed, Dulwich, South Australia, Australia.; Schreiber AW; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia.; King-Smith SL; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics, Parkville, Victoria, Australia.; Hardy TSE; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Repromed, Dulwich, South Australia, Australia.; Jackson MR; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics, Parkville, Victoria, Australia.; Barnett CP; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia. christopher.barnett@sa.gov.au.; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia. christopher.barnett@sa.gov.au.; Scott HS; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; Australian Genomics, Parkville, Victoria, Australia. hamish.scott@sa.gov.au.

Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

RN; Mar91, Vol. 54 Issue 3, p32-36, 5p

Best S; Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia. stephanie.best@mq.edu.au.; Australian Genomics, Melbourne, VIC, Australia. stephanie.best@mq.edu.au.; Brown H; Faculty of Health Science, Deakin University, Melbourne, VIC, Australia.; Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; The University of Melbourne, Melbourne, VIC, Australia.; Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.; Pinner J; Sydney Children's Hospitals Network - Randwick, Sydney, NSW, Australia.; Barnett CP; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Adelaide, SA, Australia.; Wilson M; Sydney Children's Hospitals Network - Westmead, Sydney, NSW, Australia.; Discipline of Genomic Medicine, University of Sydney, Sydney, NSW, Australia.; Sandaradura SA; Sydney Children's Hospitals Network - Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, University of Sydney, Sydney, NSW, Australia.; McClaren B; Australian Genomics, Melbourne, VIC, Australia.; The University of Melbourne, Melbourne, VIC, Australia.; Brett GR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; The University of Melbourne, Melbourne, VIC, Australia.; Braithwaite J; Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia.; Stark Z; Australian Genomics, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; The University of Melbourne, Melbourne, VIC, Australia.

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