المؤلفون: 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

المصدر: Nature genetics. 52(10):1046

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:144790969

المساهمون: Samaraweera, SE, O'Keefe, LV, Van Eyk, CL, Lawlor, KT, Humphreys, DT, Suter, CM, Richards, RI

مصطلحات موضوعية: Drosophila models of human disease, RNA dominant pathogenesis, neurodegeneration, Huntington's disease, dynamic mutations, polyglutamine, repeat expansion diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1231::931190a4266191093c4ea31ed8fa2e67
https://hdl.handle.net/11541.2/121330

المؤلفون: 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.

مؤلفون مشاركون: PERSYST Investigator Team

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Aug 08; Vol. 111 (8), pp. 1673-1699. Date of Electronic Publication: 2024 Jul 30.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Cell Transdifferentiation*/genetics , Fibroblasts*/metabolism , Fibroblasts*/cytology , Transcriptional Activation* , Neurons*/metabolism , Neurons*/cytology, Humans ; RNA/genetics ; RNA/metabolism ; CRISPR-Cas Systems

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

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jul 19, pp. 101220. Date of Electronic Publication: 2024 Jul 19.

نوع المنشور: Journal Article

بيانات الدورية: 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

المؤلفون: 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.

المصدر: Human genetics [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 455-469. Date of Electronic Publication: 2024 Mar 25.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Microcephaly*/genetics , GTPase-Activating Proteins*/genetics , Heterozygote* , Neurodevelopmental Disorders*/genetics , Mutation, Missense*, Humans ; Female ; Male ; Child, Preschool ; Child ; Loss of Function Mutation ; Animals ; Developmental Disabilities/genetics ; Mice ; Infant ; Phenotype ; Adolescent

المؤلفون: 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.

المصدر: Nature communications [Nat Commun] 2024 Feb 08; Vol. 15 (1), pp. 1210. Date of Electronic Publication: 2024 Feb 08.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Transcription Factors*/metabolism , Intellectual Disability*/genetics, Humans ; Male ; Mice ; Animals ; R-Loop Structures ; Active Transport, Cell Nucleus ; DNA Damage ; Phenotype ; RNA, Messenger/metabolism

المؤلفون: de Nys R; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia., van Eyk CL; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia., Ritchie T; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia., Møller RS; Department of Epilepsy Genetics and Personalized Medicine (member of ERN EpiCARE), Danish Epilepsy Centre, Filadelfia, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Scheffer IE; Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.; Department of Paediatrics, 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., Marini C; Child Neurology and Psychiatry Unit Children's Hospital 'G. Salesi' Azienda Ospedaliero-Universitaria delle Marche Ancona, Ancona, Italy., Bhattacharjee R; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia., Kumar R; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia., Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia. jozef.gecz@adelaide.edu.au.; South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia. jozef.gecz@adelaide.edu.au.

المصدر: Translational psychiatry [Transl Psychiatry] 2024 Jan 27; Vol. 14 (1), pp. 65. Date of Electronic Publication: 2024 Jan 27.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101562664 Publication Model: Electronic Cited Medium: Internet ISSN: 2158-3188 (Electronic) Linking ISSN: 21583188 NLM ISO Abbreviation: Transl Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Cadherins*/genetics , Epilepsy*/genetics, Humans ; Protocadherins ; Multiomics ; Proteomics ; Cluster Analysis

المؤلفون: van Eyk CL; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Fahey MC; Department of Paediatrics, Monash University, Melbourne, Victoria, Australia., Gecz J; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia. jozef.gecz@adelaide.edu.au.; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia. jozef.gecz@adelaide.edu.au.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia. jozef.gecz@adelaide.edu.au.

المصدر: Nature reviews. Neurology [Nat Rev Neurol] 2023 Sep; Vol. 19 (9), pp. 542-555. Date of Electronic Publication: 2023 Aug 03.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101500072 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1759-4766 (Electronic) Linking ISSN: 17594758 NLM ISO Abbreviation: Nat Rev Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Cerebral Palsy*/diagnosis , Cerebral Palsy*/genetics , Neurodevelopmental Disorders*/etiology , Neurodevelopmental Disorders*/genetics , Intellectual Disability*, Humans ; Causality ; Paralysis/complications

المؤلفون: 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.

المصدر: Genes [Genes (Basel)] 2023 Jul 31; Vol. 14 (8). Date of Electronic Publication: 2023 Jul 31.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Aicardi Syndrome*/genetics, Male ; Female ; Animals ; Mice ; Zebrafish/genetics ; Chromosome Mapping ; Genes, X-Linked/genetics ; Biological Assay

المؤلفون: Kayumi S; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Pérez-Jurado LA; Genetics Service, Hospital del Mar Medical Research Institute (IMIM), Network Research Centre for Rare Diseases (CIBERER), Barcelona, Spain; Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Barcelona, Spain., Palomares M; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain., Rangu S; Albert Einstein College of Medicine, Bronx, NY; Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA., Sheppard SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD., Chung WK; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ., Kharbanda M; Wessex Clinical Genetics Service, Southampton University Hospitals NHS Foundation Trust, Princess Anne Hospital, Southampton, United Kingdom., Amor DJ; Department of Paediatrics, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia., McGillivray G; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD; Department of Neurology, Johns Hopkins University School of Medicine, Kennedy Krieger Institute, Baltimore, MD., García-Miñaúr S; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain., van Eyk CL; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Harper K; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Jolly LA; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia; Adelaide Biomedical School, The University of Adelaide, Adelaide, South Australia, Australia., Webber DL; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia., Santos-Simarro F; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain., Pacio-Míguez M; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain., Pozo AD; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ., Deardorff M; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Robert's Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA; Departments of Pathology and Laboratory Medicine and Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, CA., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA., Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Robert's Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Grand K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA., Gray C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Robert's Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA., Mark PR; Spectrum Health Medical Genetics, Grand Rapids, MI., Bhoj EJ; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Li D; Center for Applied Genomics, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA., Ortiz-Gonzalez XR; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Keena B; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Goldberg EM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Perez de Nanclares G; Molecular (epi)genetics lab, Bioaraba Research Health Institute, Araba University Hospital, Vitoria-Gasteiz, Spain., Pereda A; Molecular (epi)genetics lab, Bioaraba Research Health Institute, Araba University Hospital, Vitoria-Gasteiz, Spain., Llano-Rivas I; Department of Genetics, Hospital de Cruces, Barakaldo, Spain., Arroyo I; Servicio de Neonatología, Hospital San Pedro de Alcántara, Cáceres, Spain., Fernández-Cuesta MÁ; Neuropediatrics, Hospital Universitario de Basurto, Bilbao, Vizcaya, Spain., Thauvin-Robinet C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; L'Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Laboratoire de Génétique Chromosomique et Moléculaire, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Genetics of Developmental Disorders, Dijon, France., Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; L'Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Laboratoire de Génétique Chromosomique et Moléculaire, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Garde A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Mazel B; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Bruel AL; L'Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Laboratoire de Génétique Chromosomique et Moléculaire, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Genetics of Developmental Disorders, Dijon, France., Tress ML; Bioinformatics Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain., Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Fine AS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD; Department of Neurology, Johns Hopkins University School of Medicine, Kennedy Krieger Institute, Baltimore, MD., Crompton KE; Department of Paediatrics, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Stevens SCJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Nicolai J; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands., Lesca G; Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France., Lion-François L; Department of Pediatric Neurology, Hospices Civils de Lyon, Lyon, France., Haye D; Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France., Chatron N; Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France., Piton A; Department of Medical genetics, Hopitaux Universitaires de Strasbourg, France., Nizon M; Service de Génétique Médicale, CHU Nantes, Nantes, France., Cogne B; Service de Génétique Médicale, CHU Nantes, Nantes, France., Srivastava S; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA., Bassetti J; Department of Pediatrics, Division of Medical Genetics, Weill Cornell Medicine, New York, NY., Muss C; Nemours/A.I duPont Hospital for Children, Wilmington, DE., Gripp KW; Nemours/A.I duPont Hospital for Children, Wilmington, DE., Procopio RA; Department of Ophthalmology, Wills Eye Hospital, Philadelphia, PA., Millan F; GeneDX, Gaithersburg, MD., Morrow MM; GeneDX, Gaithersburg, MD., Assaf M; Banner Children's Specialists Neurology Clinic, Glendale, AZ., Moreno-De-Luca A; Department of Radiology, Autism & Developmental Medicine Institute, Genomic Medicine Institute, Geisinger, Danville, PA., Joss S; West of Scotland Clinical Genetics Service, Glasgow, United Kingdom., Hamilton MJ; West of Scotland Clinical Genetics Service, Glasgow, United Kingdom., Bertoli M; Northern Genetics Service, Newcastle upon Tyne, United Kingdom., Foulds N; Wessex Clinical Genetics Service, Southampton University Hospitals NHS Foundation Trust, Princess Anne Hospital, Southampton, United Kingdom., McKee S; Northern Ireland Regional Genetics Centre, Belfast, United Kingdom., MacLennan AH; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Gecz J; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Corbett MA; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia. Electronic address: mark.corbett@adelaide.edu.au.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Nov; Vol. 24 (11), pp. 2351-2366. Date of Electronic Publication: 2022 Sep 09.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Neurodevelopmental Disorders*/genetics , Intellectual Disability*/genetics, Humans ; Phenotype ; Wnt Signaling Pathway/genetics ; Genomics ; beta Catenin/genetics