Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Almanza Fuerte EP"'
Autor:
LaFlamme CW; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Graduate School of Biomedical Sciences, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Rastin C; Department of Pathology & Laboratory Medicine, Western University, London, ON, N5A 3K7, Canada.; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada., Sengupta S; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Pennington HE; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Department of Mathematics & Statistics, Rhodes College, Memphis, TN, 38112, USA., Russ-Hall SJ; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia., Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia., Bonkowski ES; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Almanza Fuerte EP; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Allan TJ; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia., Zalusky MP; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA., Goffena J; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA., Gibson SB; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA.; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA., Nyaga DM; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand., Lieffering N; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand., Hebbar M; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA., Walker EV; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital Memphis, Memphis, TN, 38105, USA., Darnell D; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital Memphis, Memphis, TN, 38105, USA., Olsen SR; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital Memphis, Memphis, TN, 38105, USA., Kolekar P; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Djekidel MN; Center for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Rosikiewicz W; Center for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., McConkey H; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada., Lev D; Institute of Medical Genetics, Wolfson Medical Center, Holon, 58100, Israel., Lerman-Sagie T; Fetal Neurology Clinic, Pediatric Neurology Unit, Wolfson Medical Center, Holon, 58100, Israel.; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Park KL; Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Aurora, CO, 80045, USA., Alders M; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, Meibergdreef 9, Amsterdam, Netherlands., Cappuccio G; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Translational Medicine, Federico II University of Naples, Naples, Italy., Chatron N; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France., Demain L; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Genevieve D; Montpellier University, Inserm Unit 1183, Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndrome, Clinical Genetic Department, CHU Montpellier, Montpellier, France., Lesca G; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France., Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, NSW, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Sanlaville D; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France., Tedder ML; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Gupta S; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia., Jones EA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Genetic Department, Houston, TX, 77030, USA., Ketkar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Worley KC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA.; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX, 77030, USA., Neale G; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital Memphis, Memphis, TN, 38105, USA., Carvill GL; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Wang Z; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand., Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, 98195, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, 98195, USA., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC, Australia.; Florey Institute and Murdoch Children's Research Institute, Melbourne, VIC, Australia., Sadikovic B; Department of Pathology & Laboratory Medicine, Western University, London, ON, N5A 3K7, Canada. Bekim.Sadikovic@lhsc.on.ca.; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada. Bekim.Sadikovic@lhsc.on.ca., Mefford HC; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA. Heather.Mefford@stjude.org.
Publikováno v:
Nature communications [Nat Commun] 2024 Aug 06; Vol. 15 (1), pp. 6524. Date of Electronic Publication: 2024 Aug 06.
Autor:
Chen H; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA., Wang YD; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis TN, USA., Blan AW; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA., Almanza-Fuerte EP; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA., Bonkowski ES; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA., Bajpai R; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis TN, USA.; Center for Advanced Genome Engineering, St. Jude Children's Research Hospital, Memphis TN, USA., Pruett-Miller SM; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis TN, USA.; Center for Advanced Genome Engineering, St. Jude Children's Research Hospital, Memphis TN, USA., Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA.
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2024 Jan 27. Date of Electronic Publication: 2024 Jan 27.
Autor:
LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Galey M, Goffena J, Gibson SB, Allan TJ, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel N, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Hubshman MW, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT, Neale G, Carvill GL, Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Oct 12. Date of Electronic Publication: 2023 Oct 12.
Autor:
Stamberger H; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.; Applied and Translational Neurogenomics group, Center for Molecular Neurology, VIB, and Department of Neurology, University Hospital of Antwerp, University of Antwerp, Antwerpen, Belgium., Hammer TB; Department of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.; Clinical Genetic Department, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Gardella E; Department of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark., Vlaskamp DRM; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.; University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, the Netherlands.; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Bertelsen B; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Mandelstam S; Royal Children's Hospital, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, VIC, Australia.; Department of Radiology, University of Melbourne, Melbourne, VIC, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia., de Lange I; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Zhang J; Department of Pediatrics, Peking University First Hospital, Beijing, China., Myers CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Fenger C; Department of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark., Afawi Z; Tel Aviv University Medical School, Tel Aviv, Israel., Almanza Fuerte EP; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Andrade DM; Division of Neurology, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada., Balcik Y; Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital Frankfurt, and Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany., Ben Zeev B; Edmond and Lily Safra Children's Hospital, Pediatric Neurology Unit, Tel-Hashomer, Israel.; Tel Aviv University, Sackler School of Medicine, Tel Aviv, Israel., Bennett MF; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; Department of Medical Biology University of Melbourne, Melbourne, VIC, Australia., Berkovic SF; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia., Isidor B; Service de génétique médicale, CHU Nantes, Nantes, France., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Busk ØL; Section for Medical Genetics, Telemark Hospital, Skien, Norway., Cairns A; Department of Neurosciences, Queensland Children's Hospital, Brisbane, QLD, Australia., Caumes R; Service de Neuropédiatrie, Pôle de Médecine et Spécialités Médicales, CHRU de Lille, Lille, France., Chatron N; Lyon University Hospitals, Departments of Genetics, Lyon, France., Dale RC; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia., de Geus C; University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands., Edery P; Lyon University Hospitals, Departments of Genetics, Lyon, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Bron, France., Gill D; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia., Granild-Jensen JB; Child and Youth, Randers Regional Hospital, Randers, Denmark., Gunderson L; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Gunning B; Stichting Epilepsie Instellingen Nederland, Zwolle, The Netherlands., Heimer G; Edmond and Lily Safra Children's Hospital, Pediatric Neurology Unit, Tel-Hashomer, Israel.; Tel Aviv University, Sackler School of Medicine, Tel Aviv, Israel., Helle JR; Section for Medical Genetics, Telemark Hospital, Skien, Norway., Hildebrand MS; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Hollingsworth G; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia., Kharytonov V; Clinical Hospital 'Psychiatry', Kyiv, Ukraine., Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Koeleman BPC; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Korff C; Pediatric Neurology Unit, University Hospitals, Geneva, Switzerland., Küry S; Service de génétique médicale, CHU Nantes, Nantes, France., Lesca G; Lyon University Hospitals, Departments of Genetics, Lyon, France., Lev D; Tel Aviv University, Sackler School of Medicine, Tel Aviv, Israel.; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel., Leventer RJ; Royal Children's Hospital, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, VIC, Australia., Mackay MT; Royal Children's Hospital, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, VIC, Australia., Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., McEntagart M; Medical Genetics, St George's University Hospitals NHS FT, Cranmer Tce, London, United Kingdom., Mohammad SS; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia., Monin P; Lyon University Hospitals, Departments of Genetics, Lyon, France., Montomoli M; Department of Neuroscience, Pharmacology and Child Health, Children's Hospital A. Meyer and University of Florence, Florence, Italy., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Moutton S; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France.; INSERM UMR1231 GAD, FHU-TRANSLAD, Université de Bourgogne, Dijon, France., Muir AM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Parrini E; Department of Neuroscience, Pharmacology and Child Health, Children's Hospital A. Meyer and University of Florence, Florence, Italy., Procopis P; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Reed L; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Reif PS; Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital Frankfurt, and Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany., Rosenow F; Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital Frankfurt, and Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany., Rossi M; Lyon University Hospitals, Departments of Genetics, Lyon, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Bron, France., Sadleir LG; Department of Paediatrics and Child Health, University of Otago Wellington, Wellington, New Zealand., Sadoway T; Division of Neurology, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada., Schelhaas HJ; Stichting Epilepsie Instellingen Nederland, Zwolle, The Netherlands., Schneider AL; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia., Shah K; One Centre of Genetics, Vadodara, India., Shalev R; Neuropaediatric Unit, Shaare Zedek Medical Centre, Hebrew University School of Medicine, Jerusalem, Israel., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom and Chalfont Centre for Epilepsy, Bucks, UK., Smol T; Institut de Génétique Médicale, Hopital Jeanne de Flandre, Lille University Hospital, Lille, France., Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands., Stuurman K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Symonds JD; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK., Mau-Them FT; UF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR1231 GAD, Dijon, France., Verbeek N; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Verhoeven JS; Academic Center for Epileptology, Kempenhaege, Department of Neurology, Heeze, The Netherlands., Wallace G; Department of Neurosciences, Queensland Children's Hospital, Brisbane, QLD, Australia.; School of Medicine, University of Queensland, Brisbane, QLD, Australia., Yosovich K; Molecular Genetics Lab, Wolfson Medical Center, Holon, Israel., Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Zerem A; Tel Aviv University, Sackler School of Medicine, Tel Aviv, Israel.; White Matter Disease Care, Pediatric Neurology Unit, Dana-Dwak Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Zuberi SM; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK., Guerrini R; Department of Neuroscience, Pharmacology and Child Health, Children's Hospital A. Meyer and University of Florence, Florence, Italy., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia., Zhang YH; Department of Pediatrics, Peking University First Hospital, Beijing, China., Møller RS; Department of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark., Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia. i.scheffer@unimelb.edu.au.; Royal Children's Hospital, Melbourne, VIC, Australia. i.scheffer@unimelb.edu.au.; Murdoch Children's Research Institute, Melbourne, VIC, Australia. i.scheffer@unimelb.edu.au.; Department of Pediatrics, University of Melbourne, Melbourne, VIC, Australia. i.scheffer@unimelb.edu.au.; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia. i.scheffer@unimelb.edu.au.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 363-373. Date of Electronic Publication: 2020 Nov 04.
Autor:
Tsai MH; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan 833, ROC; School of Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan 33302, ROC., Muir AM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Wang WJ; Institute of Biochemistry and Molecular Biology, College of Life Science, National Yang-Ming University, Taipei, Taiwan, ROC., Kang YN; Institute of Brain Science, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC., Yang KC; Institute of Brain Science, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC., Chao NH; Institute of Brain Science, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC., Wu MF; Institute of Biochemistry and Molecular Biology, College of Life Science, National Yang-Ming University, Taipei, Taiwan, ROC., Chang YC; Department of Pediatrics, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan, ROC., Porter BE; Department of Neurology, Stanford University School of Medicine, Palo Alto, CA, USA., Jansen LA; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA., Sebire G; Department of Pediatrics, McGill University, Montreal, QC, Canada., Deconinck N; Department of Paediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, HUDERF, Université Libre de Bruxelles (ULB), Brussels, Belgium., Fan WL; Genomic Medicine Core Laboratory, Chang Gung Memorial Hospital, Linkou, Taiwan, ROC., Su SC; Whole-Genome Research Core Laboratory of Human Diseases, Chang Gung Memorial Hospital, Keelung, Taiwan, ROC., Chung WH; School of Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan 33302, ROC; Whole-Genome Research Core Laboratory of Human Diseases, Chang Gung Memorial Hospital, Keelung, Taiwan, ROC; Department of Dermatology, Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial Hospital, Linkou, Taipei and Keelung, Taiwan, ROC., Almanza Fuerte EP; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Mehaffey MG; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Ng CC; Genetics and Molecular Biology, Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia., Chan CK; Genetics and Molecular Biology, Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia., Lim KS; Division of Neurology, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia., Leventer RJ; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, VIC, Australia; Departments of Paediatrics and Neurology, The Royal Children's Hospital, The University of Melbourne, Melbourne 3052, VIC, Australia., Lockhart PJ; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, VIC, Australia; Departments of Paediatrics and Neurology, The Royal Children's Hospital, The University of Melbourne, Melbourne 3052, VIC, Australia., Riney K; Neurosciences Unit, Queensland Children's Hospital and School of Medicine, University of Queensland, Brisbane 4101, QLD, Australia., Damiano JA; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, VIC, Australia; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne 3084, VIC, Australia., Hildebrand MS; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, VIC, Australia; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne 3084, VIC, Australia., Mirzaa GM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Berkovic SF; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne 3084, VIC, Australia., Scheffer IE; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, VIC, Australia; Departments of Paediatrics and Neurology, The Royal Children's Hospital, The University of Melbourne, Melbourne 3052, VIC, Australia; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne 3084, VIC, Australia; The Florey Institute of Neuroscience and Mental Health, Melbourne 3052, VIC, Australia., Tsai JW; Institute of Brain Science, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC; Brain Research Center, National Yang-Ming University, Taipei 112, Taiwan, ROC; Department of Biological Science & Technology, National Chiao Tung University, Hsin-Chu 30010, Taiwan, ROC. Electronic address: tsaijw@ym.edu.tw., Mefford HC; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Electronic address: hmefford@uw.edu.
Publikováno v:
Neuron [Neuron] 2020 Apr 22; Vol. 106 (2), pp. 237-245.e8. Date of Electronic Publication: 2020 Feb 24.