부산대학교 도서관

Jin, SC; Lewis, SA; Bakhtiari, S; Zeng, X; Sierant, MC; Shetty, S; Nordlie, SM; Elie, A; Corbett, MA; Norton, BY; van Eyk, CL; Haider, S; Guida, BS; Magee, H; Liu, JM; Pastore, S; Vincent, JB; Brunstrom-Hernandez, J; Papavasileiou, A; Fahey, MC; Berry, JG; Harper, K; Zhou, CC; Zhang, JH; Li, BY; Heim, J; Webber, DL; Frank, MSB; Xia, L; Xu, YR; Zhu, DN; Zhang, BH; Sheth, AH; Knight, JR; Castaldi, C; Tikhonova, IR; Lopez-Giraldez, F; Keren, B; Whalen, S; Buratti, J; Doummar, D; Cho, MG; Retterer, K; Millan, F; Wang, YG; Waugh, JL; Rodan, L; Cohen, JS; Fatemi, A; inE; Phillips, JP; Feyma, T; MacLennan, SC; Vaughan, S; Crompton, KE; Reid, SM; Reddihough, DS; Shang, Q; Gao, C; Novak, I; Badawi, N; Wilson, YA; McIntyre, SJ; Mane, SM; Wang, XY; Amor, DJ; Zarnescu, DC; Lu, QS; Xing, QH; Zhu, CL; Bilguvar, K; Padilla-Lopez, S; Lifton, RP; Gecz, J; MacLennan, AH; Kruer, MC

Nature genetics. 52(10):1046

Kayumi, S; Perez-Jurado, LA; Palomares, M; Rangu, S; Sheppard, SE; Chung, WK; Kruer, MC; Kharbanda, M; Amor, DJ; McGillivray, G; Cohen, JS; Garcia-Minaur, S; van Eyk, CL; Harper, K; Jolly, LA; Webber, DL; Barnett, CP; Santos-Simarro, F; Pacio-Miguez, M; del Pozo, A; Bakhtiari, S; Deardorff, M; Dubbs, HA; Izumi, K; Grand, K; Gray, C; Mark, PR; Bhoj, EJ; Li, D; Ortiz-Gonzalez, XR; Keena, B; Zackai, EH; Goldberg, EM; de Nanclares, GP; Pereda, A; Llano-Rivas, I; Arroyo, I; Fernandez-Cuesta, MA; Thauvin-Robinet, C; Faivre, L; Garde, A; Mazel, B; Bruel, A-L; Tress, ML; Brilstra, E; Fine, AS; Crompton, KE; Stegmann, APA; Sinnema, M; Stevens, SCJ; Nicolai, J; Lesca, G; Lion-Francois, L; Haye, D; Chatron, N; Piton, A; Nizon, M; Cogne, B; Srivastava, S; Bassetti, J; Muss, C; Gripp, KW; Procopio, RA; Millan, F; Morrow, MM; Assaf, M; Moreno-De-Luca, A; Joss, S; Hamilton, MJ; Bertoli, M; Foulds, N; McKee, S; MacLennan, AH; Gecz, J; Corbett, MA

McMichael, G.; Bainbridge, MN.; Haan, E.; Corbett, M.; Gardner, A.; Thompson, S.; Bon, BWM van; Eyk, CL van; Broadbent, J.; Reynolds, C.; O'Callaghan, ME.; Nguyen, LS.; Adelson, DL.; Russo, R.; Jhangiani, S.; Doddapaneni, H.; Muzny, DM.; Gibbs, RA.; Gecz, J.; MacLennan, AH.

Molecular Psychiatry; Feb2015, Vol. 20 Issue 2, p176-182, 7p

Eagle KA; Ginsburg GS; Musunuru K; Aird WC; Balaban RS; Bennett SK; Blumenthal RS; Coughlin SR; Davidson KW; Frohlich ED; Greenland P; Jarvik GP; Libby P; Pepine CJ; Ruskin JN; Stillman AE; Van Eyk JE; Tolunay HE; McDonald CL; Smith SC Jr

Circulation; 3/30/2010, Vol. 121 Issue 12, p1447-1454, 8p

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

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

Van Puyvelde B; ProGenTomics, Laboratory of Pharmaceutical Biotechnology, Ghent University, 9000, Ghent, Belgium.; Advanced Clinical Biosystems Research Institute, Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA.; Hunter CL; SCIEX, Redwood City, CA, 94065, USA.; Zhgamadze M; Advanced Clinical Biosystems Research Institute, Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA.; Savant S; Beckman Coulter Life Sciences, Brea, CA, USA.; Wang YO; Advanced Clinical Biosystems Research Institute, Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA.; Hoedt E; Advanced Clinical Biosystems Research Institute, Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA.; Raedschelders K; Advanced Clinical Biosystems Research Institute, Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA.; Pope M; SISCAPA Assay Technologies Inc., Box 53309, Washington, DC, 20009, USA.; Huynh CA; Cedars Sinai Biobank & Research Pathology Resource, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA.; Ramanujan VK; Cedars Sinai Biobank & Research Pathology Resource, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA.; Tourtellotte W; Cedars Sinai Biobank & Research Pathology Resource, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA.; Razavi M; SISCAPA Assay Technologies Inc., Box 53309, Washington, DC, 20009, USA.; Anderson NL; SISCAPA Assay Technologies Inc., Box 53309, Washington, DC, 20009, USA.; Martens G; AZ Delta Medical Laboratories, AZ Delta General Hospital, 8800, Roeselare, Belgium.; Deforce D; ProGenTomics, Laboratory of Pharmaceutical Biotechnology, Ghent University, 9000, Ghent, Belgium.; Fu Q; Advanced Clinical Biosystems Research Institute, Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA.; Dhaenens M; ProGenTomics, Laboratory of Pharmaceutical Biotechnology, Ghent University, 9000, Ghent, Belgium. Maarten.Dhaenens@ugent.be.; Van Eyk JE; Advanced Clinical Biosystems Research Institute, Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA. Jennifer.VanEyk@cshs.org.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Janssens JV; Raaijmakers AJA; Koutsifeli P; Weeks KL; Bell JR; Van Eyk JE; Curl CL; Mellor KM; Delbridge LMD

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Herbst C; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.; Bothe V; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.; Wegler M; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.; Axer-Schaefer S; Department of Epileptology, Krankenhaus Mara Bethel Epilepsy Center Medical School OWL, Bielefeld University, Campus Bethel, Bielefeld, Germany.; Audebert-Bellanger S; Department of Genetics, CHU Brest, 29000, Brest, France.; Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.; Cogne B; Service de Génétique Médicale, CHU Nantes, 44000, Nantes, France.; l'institut du Thorax, Nantes Université, CHU Nantes, CNRS, INSERM, 44000, Nantes, France.; Feldman HB; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Horn AHC; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Erlangen National High Performance Computing Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Kelly MA; HudsonAlpha Clinical Services Lab, HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital University of Arizona College of Medicine, Phoenix, USA.; Kurolap A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Laquerriere A; Department of Anatomy, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France.; Li M; Invitae Corp, San Francisco, CA, USA.; Mark PR; Division of Medical Genetics, Helen DeVos Children's Hospital, Corewell Health, Grand Rapids, MI, USA.; Morawski M; Center of Neuropathology and Brain Research, Medical Faculty, Paul Flechsig Institute, University of Leipzig, Leipzig, Germany.; Nizon M; Service de Génétique Médicale, CHU Nantes, 44000, Nantes, France.; l'institut du Thorax, Nantes Université, CHU Nantes, CNRS, INSERM, 44000, Nantes, France.; Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, USA.; University of Missouri Kansas City School of Medicine, Kansas City, USA.; Polster T; Department of Epileptology, Krankenhaus Mara Bethel Epilepsy Center Medical School OWL, Bielefeld University, Campus Bethel, Bielefeld, Germany.; Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France.; SeSong J; Genomic Medicine Institute, Seoul National University, Seoul, Republic of Korea.; Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Stieler JT; Center of Neuropathology and Brain Research, Medical Faculty, Paul Flechsig Institute, University of Leipzig, Leipzig, Germany.; Thifffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, USA.; University of Missouri Kansas City School of Medicine, Kansas City, USA.; van Eyk CL; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.; Marcorelles P; Department of Anatomy, CHU Brest, 29000, Brest, France.; Vezain-Mouchard M; Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.; Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany. henry.oppermann@medizin.uni-leipzig.de.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Bhattacharjee R; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.; Jolly LA; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.; School of Biomedicine, The University of Adelaide, Adelaide, SA, 5005, Australia.; Corbett MA; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.; Wee IC; Discipline of Anatomy and Pathology, School of Biomedicine, The University of Adelaide, Adelaide, SA, 5005, Australia.; Rao SR; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Proteomics, Metabolomics and MS-imaging Core Facility, South Australian Health and Medical Research Institute, and Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Gardner AE; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.; Ritchie T; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.; van Hugte EJH; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, 6500, HB, the Netherlands.; Ciptasari U; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, 6500, HB, the Netherlands.; Piltz S; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.; School of Biomedicine, The University of Adelaide, Adelaide, SA, 5005, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia.; Noll JE; School of Biomedicine, Faculty of Health and Medical Sciences, University of Adelaide and Precision Cancer Medicine Theme, Solid Tumour Program, South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia.; Nazri N; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Childhood Dementia Research Group, College of Medicine and Public Health, Flinders Health & Medical Research Institute, Flinders University, Bedford Park, Adelaide, SA, 5042, Australia.; van Eyk CL; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.; White M; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.; School of Biomedicine, The University of Adelaide, Adelaide, SA, 5005, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia.; Fornarino D; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.; Poulton C; Undiagnosed Diseases Program, Genetic Services of WA, King Edward Memorial Hospital, Subiaco, WA, 6008, Australia.; Baynam G; Undiagnosed Diseases Program, Genetic Services of WA, King Edward Memorial Hospital, Subiaco, WA, 6008, Australia.; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, WA, 6008, Australia.; Rare Care Centre, Perth Children's Hospital, Nedlands, WA, 6009, Australia.; Collins-Praino LE; Discipline of Anatomy and Pathology, School of Biomedicine, The University of Adelaide, Adelaide, SA, 5005, Australia.; Snel MF; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Proteomics, Metabolomics and MS-imaging Core Facility, South Australian Health and Medical Research Institute, and Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Nadif Kasri N; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, 6500, HB, the Netherlands.; Hemsley KM; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Childhood Dementia Research Group, College of Medicine and Public Health, Flinders Health & Medical Research Institute, Flinders University, Bedford Park, Adelaide, SA, 5042, Australia.; Thomas PQ; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.; School of Biomedicine, The University of Adelaide, Adelaide, SA, 5005, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia.; Kumar R; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.; Gecz J; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia. jozef.gecz@adelaide.edu.au.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia. jozef.gecz@adelaide.edu.au.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE