Zobrazeno 41 - 46
of 46
pro vyhledávání: '"Heyne, Henrike O."'
Autor:
An-Sofie Schoonjans, Christina Fenger, Joseph Toulouse, Nathalie Villeneuve, Marie-Christine Nougues, Martina Fiannacca, Wen-Hann Tan, Rikke S. Møller, Boudewijn Gunning, Julitta de Bellescize, David Bearden, Federico Zara, Hiltrud Muhle, Gaetan Lesca, Sarah Weckhuysen, Guido Rubboli, Berten Ceulemans, Tobias Baumgartner, Frauke Hornemann, Steffen Syrbe, Leanne M. Dibbens, Hannah Stamberger, Catherine Sarret, Maria Margherita Mancardi, Edouard Hirsch, Salvatore Buono, Chiara Reale, Kern Olofsson, Elena Gardella, Claudia M Bonardi, Hélène Maurey, Henrike O. Heyne, Fabienne Picard, Stéphanie Baulac, Pasquale Striano, Geneviève Demarquay, Fabrice Bartolomei, Antonietta Coppola, Massimiliano Rossi, Vincent des Portes, Hester Y. Kroes, Mark Fitzgerald, Nienke E. Verbeek, David A. Koolen, Caroline Nava, Dorothée Ville, Marjolaine Willems, Cecilia Altuzarra
Publikováno v:
Brain
Brain, 144, pp. 3635-3650
Bonardi, C M, Heyne, H O, Fiannacca, M, Fitzgerald, M P, Gardella, E, Gunning, B, Olofsson, K, Lesca, G, Verbeek, N, Stamberger, H, Striano, P, Zara, F, Mancardi, M M, Nava, C, Syrbe, S, Buono, S, Baulac, S, Coppola, A, Weckhuysen, S, Schoonjans, A-S, Ceulemans, B, Sarret, C, Baumgartner, T, Muhle, H, des Portes, V, Toulouse, J, Nougues, M-C, Rossi, M, Demarquay, G, Ville, D, Hirsch, E, Maurey, H, Willems, M, de Bellescize, J, Altuzarra, C D, Villeneuve, N, Bartolomei, F, Picard, F, Hornemann, F, Koolen, D A, Kroes, H Y, Reale, C, Fenger, C D, Tan, W-H, Dibbens, L, Bearden, D R, Møller, R S & Rubboli, G 2021, ' KCNT1-related epilepsies and epileptic encephalopathies : phenotypic and mutational spectrum ', Brain : a journal of neurology, vol. 144, no. 12, pp. 3635-3650 . https://doi.org/10.1093/brain/awab219
Brain, Vol. 144, No 12 (2021) pp. 3635-3650
Brain, 144, 3635-3650
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2021, 144 (12), pp.3635-3650. ⟨10.1093/brain/awab219⟩
Brain, 144, pp. 3635-3650
Bonardi, C M, Heyne, H O, Fiannacca, M, Fitzgerald, M P, Gardella, E, Gunning, B, Olofsson, K, Lesca, G, Verbeek, N, Stamberger, H, Striano, P, Zara, F, Mancardi, M M, Nava, C, Syrbe, S, Buono, S, Baulac, S, Coppola, A, Weckhuysen, S, Schoonjans, A-S, Ceulemans, B, Sarret, C, Baumgartner, T, Muhle, H, des Portes, V, Toulouse, J, Nougues, M-C, Rossi, M, Demarquay, G, Ville, D, Hirsch, E, Maurey, H, Willems, M, de Bellescize, J, Altuzarra, C D, Villeneuve, N, Bartolomei, F, Picard, F, Hornemann, F, Koolen, D A, Kroes, H Y, Reale, C, Fenger, C D, Tan, W-H, Dibbens, L, Bearden, D R, Møller, R S & Rubboli, G 2021, ' KCNT1-related epilepsies and epileptic encephalopathies : phenotypic and mutational spectrum ', Brain : a journal of neurology, vol. 144, no. 12, pp. 3635-3650 . https://doi.org/10.1093/brain/awab219
Brain, Vol. 144, No 12 (2021) pp. 3635-3650
Brain, 144, 3635-3650
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2021, 144 (12), pp.3635-3650. ⟨10.1093/brain/awab219⟩
Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermoto
Autor:
Heyne HO; Hasso Plattner Institute for Digital Engineering, University of Potsdam, Germany.; Hasso Plattner Institute, Mount Sinai School of Medicine, NY, US.; Finnish Institute for Molecular Medicine (FIMM), University of Helsinki, Helsinki, Finland.; Program for Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pajuste FD; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.; Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia., Wanner J; Hasso Plattner Institute for Digital Engineering, University of Potsdam, Germany.; Finnish Institute for Molecular Medicine (FIMM), University of Helsinki, Helsinki, Finland., Onwuchekwa JID; Hasso Plattner Institute for Digital Engineering, University of Potsdam, Germany.; Faculty of Life Sciences, University of Siegen, Germany., Mägi R; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.; Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia., Palotie A; Finnish Institute for Molecular Medicine (FIMM), University of Helsinki, Helsinki, Finland.; Program for Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Kälviainen R; Kuopio Epilepsy Center, Neurocenter, Kuopio University Hospital, Member of ERN EpiCARE, Kuopio, Finland.; Institute of Clinical Medicine, School of Medicine, Faculty of Health Sciences, University of Eastern Finland, Kuopio, Finland., Daly MJ; Finnish Institute for Molecular Medicine (FIMM), University of Helsinki, Helsinki, Finland.; Program for Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Nov 27. Date of Electronic Publication: 2023 Nov 27.
Autor:
Bundalian L; Institute of Human Genetics, University of Leipzig Medical Center, 4103 Leipzig, Germany., Su YY; Institute of Biomedical Informatics, National Yang Ming Chiao Tung University, Taipei, Taiwan., Chen S; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Velluva A; Division of General Biochemistry, Rudolf Schönheimer Institute of Biochemistry, Medical Faculty, Leipzig University, 04103, Leipzig, Germany.; Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103, Leipzig, Germany., Kirstein AS; Pediatric Research Center, University Hospital for Children and Adolescents, Leipzig University, 04103, Leipzig, Germany., Garten A; Pediatric Research Center, University Hospital for Children and Adolescents, Leipzig University, 04103, Leipzig, Germany., Biskup S; CeGaT GmbH, 72076, Tuebingen, Germany.; Hertie-Institute for Clinical Brain Research, 72070, Tubingen, Germany., Battke F; CeGaT GmbH, 72076, Tuebingen, Germany., Lal D; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Cologne Center for Genomics, University of Cologne, 50937 Cologne, Germany., Heyne HO; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Hasso-Plattner-Institut for Digital Engineering, University of Potsdam, Potsdam, Germany.; Hasso Plattner Institute at Mount Sinai, Mount Sinai School of Medicine, NY, US.; Institute for Molecular Medicine Finland: FIMM, University of Helsinki, Helsinki, Finland., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 4103 Leipzig, Germany., Lin CC; Institute of Biomedical Informatics, National Yang Ming Chiao Tung University, Taipei, Taiwan., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, 4103 Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, 4103 Leipzig, Germany., Le Duc D; Institute of Human Genetics, University of Leipzig Medical Center, 4103 Leipzig, Germany.; Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103, Leipzig, Germany.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Mar 10. Date of Electronic Publication: 2023 Mar 10.
Autor:
Singh T; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA. tsingh@broadinstitute.org.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. tsingh@broadinstitute.org.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA. tsingh@broadinstitute.org., Poterba T; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Curtis D; UCL Genetics Institute, University College London, London, UK.; Centre for Psychiatry, Queen Mary University London, London, UK., Akil H; Department of Psychiatry, Michigan Neuroscience Institute, Medical School, University of Michigan, Ann Arbor, MI, USA., Al Eissa M; Division of Psychiatry, University College London, London, UK., Barchas JD; Weill Cornell Medical College, New York, NY, USA., Bass N; Division of Psychiatry, University College London, London, UK., Bigdeli TB; Department of Psychiatry and Behavioral Sciences, SUNY Downstate College of Medicine, Brooklyn, NY, USA., Breen G; Social Genetic and Developmental Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Bromet EJ; Department of Psychiatry and Behavioral Health, Health Sciences Center, Stony Brook University, Stony Brook, NY, USA., Buckley PF; Department of Psychiatry, Virginia Commonwealth University, Richmond, VA, USA., Bunney WE; Department of Psychiatry and Human Behavior, University of California, Irvine, Irvine, CA, USA., Bybjerg-Grauholm J; Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.; Center for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark., Byerley WF; Department of Psychiatry, University of California, San Francisco, San Francisco, CA, USA., Chapman SB; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Chen WJ; College of Public Health, National Taiwan University, Taipei, Taiwan., Churchhouse C; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Craddock N; National Centre for Mental Health, Cardiff University, Cardiff, UK., Cusick CM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., DeLisi L; Department of Psychiatry, Cambridge Health Alliance, Cambridge Hospital, Cambridge, MA, USA., Dodge S; Genomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Escamilla MA; Texas Tech University Health Sciences Center, El Paso, TX, USA., Eskelinen S; University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Department of Public Health Solutions, Mental Health Unit, National Institute for Health and Welfare, Helsinki, Finland., Fanous AH; Department of Psychiatry and Behavioral Sciences, SUNY Downstate Medical Center, Brooklyn, NY, USA., Faraone SV; Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA., Fiorentino A; Division of Psychiatry, University College London, London, UK., Francioli L; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Gabriel SB; Genomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gage D; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gagliano Taliun SA; Faculté de Médecine, Université de Montréal, Montreal, Quebec, Canada.; Montréal Heart Institute, Montreal, Quebec, Canada., Ganna A; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland., Genovese G; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Glahn DC; Department of Psychiatry, Boston Children's Hospital, Boston, MA, USA., Grove J; Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.; Department of Biomedicine and Center for Integrative Sequencing, Aarhus University, Aarhus, Denmark.; Center for Genomics and Personalized Medicine, Aarhus, Denmark.; Bioinformatics Research Centre, Aarhus University, Aarhus, Denmark., Hall MH; McLean Hospital, Harvard Medical School, Belmont, MA, USA., Hämäläinen E; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland., Heyne HO; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland., Holi M; Department of Psychiatry, Helsinki University Hospital, University of Helsinki, Helsinki, Finland., Hougaard DM; Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.; Center for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark., Howrigan DP; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Huang H; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hwu HG; Department of Psychiatry, National Taiwan University, Taipei, Taiwan., Kahn RS; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; MIRECC, JP Peters VA Hospital, Bronx, NY, USA., Kang HM; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA., Karczewski KJ; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Kirov G; MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Knowles JA; Department of Cell Biology, SUNY Downstate Medical Center, Brooklyn, NY, USA., Lee FS; Weill Cornell Medical College, New York, NY, USA., Lehrer DS; Department of Psychiatry, Wright State University, Dayton, OH, USA., Lescai F; Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Malaspina D; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Marder SR; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., McCarroll SA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Genetics, Harvard Medical School, Boston, MA, USA., McIntosh AM; University of Edinburgh, Edinburgh, UK., Medeiros H; Department of Psychiatry and Behavioral Sciences, SUNY Downstate Medical Center, Brooklyn, NY, USA., Milani L; Institute of Genomics, University of Tartu, Tartu, Estonia., Morley CP; Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA.; Department of Public Health and Preventive Medicine and Department of Family Medicine, SUNY Upstate Medical University, Syracuse, NY, USA., Morris DW; National University of Ireland, Galway, Ireland., Mortensen PB; Aarhus University, Aarhus, Denmark., Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Nordentoft M; Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.; Copenhagen Research Center for Mental Health, Mental Health Services, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., O'Brien NL; Division of Psychiatry, University College London, London, UK., Olivares AM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ongur D; McLean Hospital, Harvard Medical School, Belmont, MA, USA., Ouwehand WH; University of Cambridge, Cambridge, UK., Palmer DS; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Paunio T; Department of Psychiatry, University of Helsinki, Helsinki, Finland., Quested D; Oxford Health NHS Foundation Trust, Oxford, UK., Rapaport MH; Department of Psychiatry and Behavioral Sciences, Emory University, Atlanta, GA, USA., Rees E; MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Rollins B; Department of Psychiatry and Human Behavior, University of California, Irvine, Irvine, CA, USA., Satterstrom FK; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA, USA., Schatzberg A; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Scolnick E; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Scott LJ; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA., Sharp SI; Division of Psychiatry, University College London, London, UK., Sklar P; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Smoller JW; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Department of Psychiatry, Harvard Medical School, Boston, MA, USA., Sobell JL; Department of Psychiatry and the Behavioral Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Solomonson M; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Stahl EA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Stevens CR; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Suvisaari J; Finnish Institute for Health and Welfare, Helsinki, Finland., Tiao G; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Watson SJ; Department of Psychiatry, Michigan Neuroscience Institute, Medical School, University of Michigan, Ann Arbor, MI, USA., Watts NA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Blackwood DH; Department of Psychiatry, University of Edinburgh, Edinburgh, UK., Børglum AD; Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.; Department of Biomedicine and Center for Integrative Sequencing, Aarhus University, Aarhus, Denmark.; Center for Genomics and Personalized Medicine, Aarhus, Denmark., Cohen BM; McLean Hospital, Harvard Medical School, Belmont, MA, USA., Corvin AP; Trinity College Dublin, Dublin, Ireland., Esko T; Institute of Genomics, University of Tartu, Tartu, Estonia., Freimer NB; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Glatt SJ; Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA., Hultman CM; School of Medicine, Johns Hopkins University, Baltimore, MD, USA., McQuillin A; Division of Psychiatry, University College London, London, UK., Palotie A; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Pato CN; Department of Psychiatry and Behavioral Sciences, SUNY Downstate College of Medicine, Brooklyn, NY, USA., Pato MT; Department of Psychiatry and Behavioral Sciences, SUNY Downstate College of Medicine, Brooklyn, NY, USA., Pulver AE; School of Medicine, Johns Hopkins University, Baltimore, MD, USA., St Clair D; University of Aberdeen, Aberdeen, UK., Tsuang MT; Center for Behavioral Genomics, Department of Psychiatry, University of California, San Diego, La Jolla, CA, USA., Vawter MP; Department of Psychiatry and Human Behavior, University of California, Irvine, Irvine, CA, USA., Walters JT; MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Werge TM; Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Institute of Biological Psychiatry, Mental Health Services, Copenhagen University Hospital, Copenhagen, Denmark.; Center for GeoGenetics, GLOBE Institute, University of Copenhagen, Copenhagen, Denmark., Ophoff RA; Center for Neurobehavioral Genetics, University of California, Los Angeles, Los Angeles, CA, USA.; Department of Psychiatry, Erasmus Medical Center, Erasmus University, Rotterdam, the Netherlands., Sullivan PF; Karolinska Institute, Solna, Sweden.; University of North Carolina, Chapel Hill, NC, USA., Owen MJ; MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Boehnke M; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA., O'Donovan MC; MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Neale BM; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA. bneale@broadinstitute.org.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. bneale@broadinstitute.org.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA. bneale@broadinstitute.org., Daly MJ; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA. mjdaly@atgu.mgh.harvard.edu.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. mjdaly@atgu.mgh.harvard.edu.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA. mjdaly@atgu.mgh.harvard.edu.; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland. mjdaly@atgu.mgh.harvard.edu.
Publikováno v:
Nature [Nature] 2022 Apr; Vol. 604 (7906), pp. 509-516. Date of Electronic Publication: 2022 Apr 08.
Autor:
Platzer K; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Yuan H; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, Georgia, USA., Schütz H; Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany., Winschel A; Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany., Chen W; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA., Hu C; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA., Kusumoto H; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA., Heyne HO; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Helbig KL; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA., Tang S; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA., Willing MC; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA., Tinkle BT; Advocate Children's Hospital, Park Ridge, Illinois, USA., Adams DJ; Genetics and Metabolism, Goryeb Children's Hospital, Atlantic Health System, Morristown, New Jersey, USA., Depienne C; INSERM, U 1127, Sorbonne Universités, UPMC Université Paris 06, CNRS, UMR 7225, Institut du cerveau et de la moelle épinière (ICM), Paris, France.; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC 'Déficiences Intellectuelles et Autisme', Hôpital de la Pitié-Salpêtrière, Paris, France.; UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.; Laboratoire de cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Keren B; INSERM, U 1127, Sorbonne Universités, UPMC Université Paris 06, CNRS, UMR 7225, Institut du cerveau et de la moelle épinière (ICM), Paris, France.; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC 'Déficiences Intellectuelles et Autisme', Hôpital de la Pitié-Salpêtrière, Paris, France., Mignot C; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC 'Déficiences Intellectuelles et Autisme', Hôpital de la Pitié-Salpêtrière, Paris, France., Frengen E; Department of Medical Genetics, Oslo University Hospitals and University of Oslo, Oslo, Norway., Strømme P; Department of Pediatrics, Oslo University Hospitals and University of Oslo, Oslo, Norway., Biskup S; Practice for Human Genetics and CeGaT GmbH, Tübingen, Germany., Döcker D; Practice for Human Genetics and CeGaT GmbH, Tübingen, Germany., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., Muir AM; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., LaCroix A; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., Sadleir L; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Scheffer IE; Department of Medicine, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australia., Brilstra E; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., van Haelst MM; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., van der Smagt JJ; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., Bok LA; Department of Paediatrics, Màxima Medical Centre, Veldhoven, The Netherlands., Møller RS; The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Millichap JJ; Departments of Pediatrics, Epilepsy Center and Division of Neurology Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Berg AT; Departments of Pediatrics, Epilepsy Center and Division of Neurology Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Goldberg EM; Division of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., De Bie I; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada., Fox S; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada., Major P; Department of Neurological Sciences, Université de Montréal, CHU Ste-Justine, Montreal, Canada., Jones JR; Greenwood Genetic Center, Greenwood, South Carolina, USA., Zackai EH; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Abou Jamra R; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.; Centogene AG, Rostock, Germany., Rolfs A; Centogene AG, Rostock, Germany., Leventer RJ; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Murdoch Childrens Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia., Lawson JA; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia., Roscioli T; Genome.One, Sydney, New South Wales, Australia., Jansen FE; Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, The Netherlands., Ranza E; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland., Korff CM; Department of Child and Adolescent, Neurology Unit, University Hospitals of Geneva, Geneva, Switzerland., Lehesjoki AE; The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.; Research Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki, Finland., Courage C; The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.; Research Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki, Finland., Linnankivi T; Department of Pediatric Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Smith DR; Courtagen Life Sciences, Woburn, Massachusetts, USA., Stanley C; Courtagen Life Sciences, Woburn, Massachusetts, USA., Mintz M; The Center for Neurological and Neurodevelopmental Health and the Clinical Research Center of New Jersey, Voorhees, New Jersey, USA., McKnight D; GeneDx, Gaithersburg, Maryland, USA., Decker A; GeneDx, Gaithersburg, Maryland, USA., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Tarnopolsky MA; Department of Pediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada., Brady LI; Department of Pediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada., Wolff M; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tubingen, Germany., Dondit L; Department of Pediatric Neurology and Center for Developmental Medicine, Olgahospital Stuttgart, Stuttgart, Germany., Pedro HF; Hackensack University Medical Center, Hackensack, New Jersey, USA., Parisotto SE; Hackensack University Medical Center, Hackensack, New Jersey, USA., Jones KL; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA., Patel AD; Nationwide Children's Hospital, Columbus, Ohio, USA.; The Ohio State University College of Medicine, Columbus, Ohio, USA., Franz DN; Department of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Vanzo R; Lineagen, Inc., Salt Lake City, Utah, USA., Marco E; Department of Neurology, University of San Francisco School of Medicine, San Francisco, California, USA., Ranells JD; Department of Pediatrics, University of South Florida, Tampa, Florida, USA., Di Donato N; Institute for Clinical Genetics, Carl Gustav Carus Faculty of Medicine, TU Dresden, Dresden, Germany., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Neurology, University of Washington, Seattle, Washington, USA., Laube B; Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany., Traynelis SF; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, Georgia, USA., Lemke JR; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
Publikováno v:
Journal of medical genetics [J Med Genet] 2017 Jul; Vol. 54 (7), pp. 460-470. Date of Electronic Publication: 2017 Apr 04.
Autor:
Heyne HO; Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany Institute for Biochemistry, University of Leipzig, Medical Faculty, 04103 Leipzig, Germany henrikeheyne@hotmail.de falbert@mednet.ucla.edu., Lautenschläger S; Institute for Biochemistry, University of Leipzig, Medical Faculty, 04103 Leipzig, Germany., Nelson R; Swedish University of Agricultural Sciences, Department of Clinical Sciences, Division of Computational Genetics, Box 7078 SE-75007 Uppsala, Sweden., Besnier F; Swedish University of Agricultural Sciences, Department of Clinical Sciences, Division of Computational Genetics, Box 7078 SE-75007 Uppsala, Sweden Section of Population Genetics and Ecology, Institute of Marine Research, Havforskningsinstituttet, Nordnes 5817, Bergen, Norway., Rotival M; MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, London W12 0NN, United Kingdom., Cagan A; Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany., Kozhemyakina R; Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia., Plyusnina IZ; Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia., Trut L; Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia., Carlborg Ö; Swedish University of Agricultural Sciences, Department of Clinical Sciences, Division of Computational Genetics, Box 7078 SE-75007 Uppsala, Sweden., Petretto E; MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, London W12 0NN, United Kingdom., Kruglyak L; Department of Human Genetics, Gonda Center, University of California, Los Angeles, California 90095 Department of Biological Chemistry, Gonda Center, University of California, Los Angeles, California 90095 Howard Hughes Medical Institute, Gonda Center, University of California, Los Angeles, California 90095., Pääbo S; Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany., Schöneberg T; Institute for Biochemistry, University of Leipzig, Medical Faculty, 04103 Leipzig, Germany., Albert FW; Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany Department of Human Genetics, Gonda Center, University of California, Los Angeles, California 90095 henrikeheyne@hotmail.de falbert@mednet.ucla.edu.
Publikováno v:
Genetics [Genetics] 2014 Nov; Vol. 198 (3), pp. 1277-90. Date of Electronic Publication: 2014 Sep 03.