Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Krawitz PM"'
Autor:
Schmidt A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Danyel M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Grundmann K; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Institut für Medizinische Biometrie, Informatik und Epidemiologie, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Engels H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Peters S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Moosa S; Institute for Medical Genetics, Stellenbosch University, Cape Town, South Africa., Averdunk L; Department of Pediatrics, University Hospital Düsseldorf, Düsseldorf, Germany., Boschann F; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Sczakiel HL; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Schwartzmann S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Mensah MA; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Pantel JT; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Holtgrewe M; Core Uni Bioinformatics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Bösch A; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Weiß C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Weinhold N; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Suter AA; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Stoltenburg C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Neugebauer J; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Kallinich T; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Kaindl AM; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Center for Chronically Sick Children, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute of Cell and Neurobiology, Charité - Universitätsmedizin Berlin, Berlin, Germany., Holzhauer S; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Bührer C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Bufler P; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Kornak U; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Ott CE; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Schülke M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Nguyen HHP; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany., Hoffjan S; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany., Grasemann C; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany., Rothoeft T; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany., Brinkmann F; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany., Matar N; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany., Sivalingam S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Perne C; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Mangold E; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Kreiss M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Cremer K; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Betz RC; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Mücke M; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Grigull L; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Klockgether T; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Spier I; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Heimbach A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Bender T; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Brand F; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Stieber C; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Morawiec AM; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Karakostas P; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Schäfer VS; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Bernsen S; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Weydt P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Castro-Gomez S; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Aziz A; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Grobe-Einsler M; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Kimmich O; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Kobeleva X; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Önder D; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Lesmann H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Kumar S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Tacik P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Basin MA; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Incardona P; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Lee-Kirsch MA; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Berner R; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Schuetz C; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Körholz J; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Kretschmer T; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Di Donato N; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany., Schröck E; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany., Heinen A; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Reuner U; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Neurology, University Hospital Carl Gustav Carus, Dresden, Germany., Hanßke AM; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany., Kaiser FJ; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Manka E; Department of Pediatrics II, University Hospital Essen, Essen, Germany., Munteanu M; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Cordula K; Department of Pediatrics II, University Hospital Essen, Essen, Germany., Hirtz R; Department of Pediatrics II, University Hospital Essen, Essen, Germany., Schlapakow E; Department of Neurology, University Hospital Halle, Halle, Germany., Schlein C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Lisfeld J; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Kubisch C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Herget T; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Hempel M; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Weiler-Normann C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Ullrich K; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Schramm C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Rudolph C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Rillig F; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Groffmann M; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Muntau A; Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Tibelius A; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Zawada M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Kaufmann L; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Okun PM; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Kotzaeridou U; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Hoffmann GF; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Choukair D; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Bettendorf M; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Spielmann M; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany., Ripke A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany., Pauly M; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute for Neurogenetics, University Hospital Schleswig-Holstein, Lübeck, Germany., Münchau A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany., Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Hüning I; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany., Hanker B; Institute of Human Genetics, University of Lübeck, Lübeck, Germany., Bäumer T; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany., Herzog R; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany., Hellenbroich Y; Department of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany., Westphal DS; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Strom T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Kovacs R; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Mayerhanser K; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Graf E; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Brugger M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Oexle K; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany., Mirza-Schreiber N; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany., Berutti R; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany., Schatz U; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Krenn M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Department of Neurology, Medical University of Vienna, Wien, Austria., Makowski C; Department of Paediatrics, Adolescent Medicine and Neonatology, München, Germany., Weigand H; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Schröder S; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Rohlfs M; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Vill K; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Hauck F; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Borggraefe I; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Müller-Felber W; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Kehrer M; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Demidov G; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Beck-Wödl S; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Graessner H; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Sturm M; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Zeltner L; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Schöls LJ; Department of Neurology, University of Tübingen, Tübingen, Germany., Magg J; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Bevot A; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany., Kehrer C; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany., Kaiser N; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany., Turro E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Horn D; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Grüters-Kieslich A; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany., Klein C; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Mundlos S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Nöthen M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Riess O; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Krude H; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany. pkrawitz@uni-bonn.de., Haack T; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.
Publikováno v:
Nature genetics [Nat Genet] 2024 Aug; Vol. 56 (8), pp. 1644-1653. Date of Electronic Publication: 2024 Jul 22.
Autor:
Lesmann H; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Hustinx A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Moosa S; Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Stellenbosch, South Africa., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, NRW, Germany., Marchi E; New York State Institute for Basic Research in Developmental Disabilities, New York State, Albany, New York, USA., Caro P; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany., Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Pantel JT; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany.; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany., Hagen MT; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Binti Mazlan RA; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Tae SK; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Kamphans T; GeneTalk GmbH, Bonn, NRW, Germany., Meiswinkel W; GeneTalk GmbH, Bonn, NRW, Germany., Li JM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Javanmardi B; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Uwineza A; College of Medicine and Health Sciences, University of Rwanda, and University Teaching Hospital of Kigali, Kigali, Rwanda., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Georgia., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Mattern L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Velmans C; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Jacob M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Peron A; Medical Genetics, Meyer Children's Hospital IRCCS, Firenze, Italy.; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Università degli Studi di Firenze, Italy., Dias C; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, UK.; Department of Medical & Molecular Genetics, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, UK., Nunes BC; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Vilella T; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Pinheiro IF; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil., Kim CA; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil., Melaragno MI; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Weiland H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Kaptain S; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Chwiałkowska K; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland.; IMAGENE.ME SA, Bialystok, Poland., Kwasniewski M; IMAGENE.ME SA, Bialystok, Poland.; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland., Saad R; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London UK., Wiethoff S; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, NRW, Germany., Goel H; School of Medicine and Public Health, University of Newcastle, Callaghan NSW, Australia., Tang C; Kabuki Syndrome Foundation, Northbrook, IL, USA., Hau A; Hunter Genetics, Hunter New England Health Service, Newcastle, Australia., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Panek P; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Nabil A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Suh J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Braun F; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, NRW, Germany., Gomy I; Department of Genetics, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Sao Paulo, Brazil., Averdunk L; Department of General Pediatrics and Neonatology, University Children's Hospital, Heinrich-Heine-University, Medical Faculty, Düsseldorf, Germany., Ekure E; Department of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria., Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana., Graziano C; Medical Genetics Unit, Ausl Romagna, Cesena, Italy., Gaboon N; Medical Genetics Center, Faculty of Medicine, Ain Shams University, Cairo, Egypt.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt., Fiesco-Roa M; Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, Universidad Nacional Autónoma de México, México City, Mexico.; Laboratorio de Citogenética, Instituto Nacional de Pediatría, México City, Mexico., Spinelli AM; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy., Wilpert NM; NeuroCure Cluster of Excellence; Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-10117 Berlin, Germany.; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-13353 Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Junior Clinician Scientist Program, D-10117 Berlin, German., Phowthongkum P; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.; Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Güzel N; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Bitar R; Pediatric Gastroenterology Department, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; Khalifa University, Abu Dhabi, United Arab Emirates., Tzschach A; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Rodriguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Contreras-Capetillo SN; Universidad Autonoma de Yucatan (University Autonomus of Yucatan), Merida, Yucatan, Mexico., Oberlack A; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Samango-Sprouse C; Department of Pediatrics, George Washington University, 2121 I St. NW, Washington D.C. 2005.; Department of Human and Molecular Genetics, Florida International University, 11200 SW 8th Street, AHC2 Miami, Florida 22199.; Department of Research, The Focus Foundation, 820 W. Central Ave. #190, Davidsonville, MD 21035., Sadeghin T; Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035., Olaya M; Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Borovikov A; Research Centre for Medical Genetics (RCMG), Moscow, Russia., Schnabel F; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Heuft L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Herrmann V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Kumar S; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany., Komlosi K; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Mohamed K; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Kalantari S; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Martinez-Monseny AF; Department of Clinical Genetics, SJD Barcelona Children's Hospital, Esplugues del Llobregat (Barcelona), Spain., Höller M; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Toutouna L; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Mohamed A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Lasa-Aranzasti A; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain., Sayer JA; Biosciences Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.; Renal Services, The Newcastle Upon Tyne NHS Hospitals Foundation Trust, Freeman Road, Newcastle Upon Tyne, UK., Ehmke N; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Danyel M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Sczakiel H; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Schwartzmann S; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Boschann F; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Zhao M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Adam R; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Einicke L; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Horn D; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Chew KS; Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia., Kam CC; Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia., Karakoyun M; Ege University, Faculty of Medicine, Department of Pediatric Gastroenterology Hepatology and Nutrition, Izmir, Turkey., Pode-Shakked B; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; The faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel., Eliyahu A; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel., Rock R; Metabolic Diseases Clinic, Edmond and Lily Safra Children's Hospital, Sheba Medical Center.; National Newborn Screening Program, Public Health Services, Ministry of Health Tel-Hashomer, Israel., Carrion T; Rare diseases Unit, Pediatric Department, Hospital Universitari Son Espases, Palma de Mallorca, Spain., Chorin O; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel., Zarate YA; Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR, USA.; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA., Conti MM; Project Director AI for Health at Foundation 29, Foundation 29, Madrid, Spain., Karakaya M; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany., Tung ML; University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA., Chandra B; University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lumaka A; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo., Wasif N; Institute of Human Genetics, University of Ulm, Ulm, Baden-Württemberg, Germany.; University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Blackburn PR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA., Wang T; Department of Medical Genetics, Center for Medical Genetics, Peking University Health Science Center, Beijing 100191, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China.; Autism Research Center, Peking University Health Science Center, Beijing 100191, China., Niehues T; Department of Pediatrics, Helios Klinik Krefeld, Krefeld 47805, Germany., Schmidt A; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany., Roth RR; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany., Hu P; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Waikel RL; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Ledgister Hanchard SE; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Elmakkawy G; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Safwat S; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Ebstein F; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France., Krüger E; Insitute for Medical Biochemistry and Molecular Biology, University of Greifswald, Greifswald, Greifswald, Germany., Küry S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France., Bézieau S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France., Arlt A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Olinger E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, Brussels, Belgium., Marbach F; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany., Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dupuis L; Department to Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital of Sick Children, Toronto, Ontario, Canada., Mendoza-Londono R; Department to Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital of Sick Children, Toronto, Ontario, Canada., Houge SD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Weis D; Institue for Medical Genetics, Kepler University Hospital, Linz, Austria., Chung BH; Hong Kong Genome Institute, Hong Kong, China.; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China., Mak CCY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China., Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), 34010, Istanbul, Türkiye., Elcioglu N; Department of Pediatric Genetics, Marmara University School of Medicine, Istanbul, Türkiye., Aykut A; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Türkiye., Şimşek-Kiper PÖ; Hacettepe University Faculty of Medicine, Department of Pediatric Genetics, Ankara, Türkiye., Bögershausen N; Institut of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Wollnik B; Institut of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Göttingen, Göttingen, Germany., Bentzen HB; Centre for Medical Ethics, Faculty of Medicine, University of Oslo, Oslo, Norway.; Cancer Registry of Norway, Norwegian Institute of Public Health, Oslo, Norway., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Netzer C; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany., Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Devriendt K; Center for Human Genetics, KU Leuven, Leuven, Belgium., Gripp KW; Division of Medical Genetics, A.I. du Pont Hospital for Children/Nemours, USA, Wilmington, Delaware, USA., Mücke M; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany.; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany., Verloes A; Department of Clinical Genetics, Robert-Debré Hospital, Paris, France., Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany., Nellåker C; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, UK., Solomon BD; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Nöthen MM; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany., Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.; George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.; Biology PhD Program, The Graduate Center, The City University of New York, New York, United States of America., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.
Publikováno v:
Research square [Res Sq] 2024 Jun 10. Date of Electronic Publication: 2024 Jun 10.
Autor:
Lesmann H; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Hustinx A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Moosa S; Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Stellenbosch, South Africa., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, NRW, Germany., Marchi E; New York State Institute for Basic Research in Developmental Disabilities, New York State, Albany, New York, USA., Caro P; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany., Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Pantel JT; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany.; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany., Ten Hagen M; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Binti Mazlan RA; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Tae SK; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Kamphans T; GeneTalk GmbH, Bonn, NRW, Germany., Meiswinkel W; GeneTalk GmbH, Bonn, NRW, Germany., Li JM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Javanmardi B; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Uwineza A; College of Medicine and Health Sciences, University of Rwanda, and University Teaching Hospital of Kigali, Kigali, Rwanda., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Georgia., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Mattern L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Velmans C; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Jacob M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Peron A; Medical Genetics, Meyer Children's Hospital IRCCS, Firenze, Italy.; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Università degli Studi di Firenze, Italy., Dias C; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, UK.; Department of Medical & Molecular Genetics, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, UK., Nunes BC; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Vilella T; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Pinheiro IF; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil., Kim CA; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil., Melaragno MI; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Weiland H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Kaptain S; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Chwiałkowska K; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland.; IMAGENE.ME SA, Bialystok, Poland., Kwasniewski M; IMAGENE.ME SA, Bialystok, Poland.; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland., Saad R; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London UK., Wiethoff S; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, NRW, Germany., Goel H; School of Medicine and Public Health, University of Newcastle, Callaghan NSW, Australia., Tang C; Kabuki Syndrome Foundation, Northbrook, IL, USA., Hau A; Hunter Genetics, Hunter New England Health Service, Newcastle, Australia., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Panek P; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Nabil A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Suh J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Braun F; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, NRW, Germany., Gomy I; Department of Genetics, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Sao Paulo, Brazil., Averdunk L; Department of General Pediatrics and Neonatology, University Children's Hospital, Heinrich-Heine-University, Medical Faculty, Düsseldorf, Germany., Ekure E; Department of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria., Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana., Graziano C; Medical Genetics Unit, Ausl Romagna, Cesena, Italy., Gaboon N; Medical Genetics Center, Faculty of Medicine, Ain Shams University, Cairo, Egypt.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt., Fiesco-Roa M; Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, Universidad Nacional Autónoma de México, México City, Mexico.; Laboratorio de Citogenética, Instituto Nacional de Pediatría, México City, Mexico., Spinelli AM; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy., Wilpert NM; NeuroCure Cluster of Excellence; Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-10117 Berlin, Germany.; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-13353 Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Junior Clinician Scientist Program, D-10117 Berlin, German., Phowthongkum P; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.; Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Güzel N; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Bitar R; Pediatric Gastroenterology Department, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; Khalifa University, Abu Dhabi, United Arab Emirates., Tzschach A; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Rodriguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat AutÓnoma de Barcelona, Barcelona, Spain., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Contreras-Capetillo SN; Universidad Autonoma de Yucatan (University Autonomus of Yucatan), Merida, Yucatan, Mexico., Oberlack A; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Samango-Sprouse C; Department of Pediatrics, George Washington University, 2121 I St. NW, Washington D.C. 2005.; Department of Human and Molecular Genetics, Florida International University, 11200 SW 8th Street, AHC2 Miami, Florida 22199.; Department of Research, The Focus Foundation, 820 W. Central Ave. #190, Davidsonville, MD 21035., Sadeghin T; Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035., Olaya M; Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Borovikov A; Research Centre for Medical Genetics (RCMG), Moscow, Russia., Schnabel F; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Heuft L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Herrmann V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Kumar S; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany., Komlosi K; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Mohamed K; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Kalantari S; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Martinez-Monseny AF; Department of Clinical Genetics, SJD Barcelona Children's Hospital, Esplugues del Llobregat (Barcelona), Spain., Höller M; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Toutouna L; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Mohamed A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Lasa-Aranzasti A; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain., Sayer JA; Biosciences Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.; Renal Services, The Newcastle Upon Tyne NHS Hospitals Foundation Trust, Freeman Road, Newcastle Upon Tyne, UK., Ehmke N; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Danyel M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Sczakiel H; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Schwartzmann S; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Boschann F; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Zhao M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Adam R; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Einicke L; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Horn D; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Chew KS; Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia., Kam CC; Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia., Karakoyun M; Ege University, Faculty of Medicine, Department of Pediatric Gastroenterology Hepatology and Nutrition, Izmir, Turkey., Pode-Shakked B; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; The faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel., Eliyahu A; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel., Rock R; Metabolic Diseases Clinic, Edmond and Lily Safra Children's Hospital, Sheba Medical Center.; National Newborn Screening Program, Public Health Services, Ministry of Health Tel-Hashomer, Israel., Carrion T; Rare diseases Unit, Pediatric Department, Hospital Universitari Son Espases, Palma de Mallorca, Spain., Chorin O; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel., Zarate YA; Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR, USA.; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA., Conti MM; Project Director AI for Health at Foundation 29, Foundation 29, Madrid, Spain., Karakaya M; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany., Tung ML; University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA., Chandra B; University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lumaka A; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo., Wasif N; Institute of Human Genetics, University of Ulm, Ulm, Baden-Württemberg, Germany.; University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Blackburn PR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA., Wang T; Department of Medical Genetics, Center for Medical Genetics, Peking University Health Science Center, Beijing 100191, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China.; Autism Research Center, Peking University Health Science Center, Beijing 100191, China., Niehues T; Department of Pediatrics, Helios Klinik Krefeld, Krefeld 47805, Germany., Schmidt A; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany., Roth RR; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany., Hu P; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Waikel RL; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Ledgister Hanchard SE; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Elmakkawy G; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Safwat S; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Ebstein F; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France., Krüger E; Insitute for Medical Biochemistry and Molecular Biology, University of Greifswald, Greifswald, Greifswald, Germany., Küry S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France., Bézieau S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France., Arlt A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Olinger E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, Brussels, Belgium., Marbach F; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany., Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dupuis L; Department to Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital of Sick Children, Toronto, Ontario, Canada., Mendoza-Londono R; Department to Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital of Sick Children, Toronto, Ontario, Canada., Houge SD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Weis D; Institue for Medical Genetics, Kepler University Hospital, Linz, Austria., Chung BH; Hong Kong Genome Institute, Hong Kong, China.; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China., Mak CCY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China., Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), 34010, Istanbul, Türkiye., Elcioglu N; Department of Pediatric Genetics, Marmara University School of Medicine, Istanbul, Türkiye., Aykut A; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Türkiye., Şimşek-Kiper PÖ; Hacettepe University Faculty of Medicine, Department of Pediatric Genetics, Ankara, Türkiye., Bögershausen N; Institut of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Wollnik B; Institut of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Göttingen, Göttingen, Germany., Bentzen HB; Centre for Medical Ethics, Faculty of Medicine, University of Oslo, Oslo, Norway.; Cancer Registry of Norway, Norwegian Institute of Public Health, Oslo, Norway., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Netzer C; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany., Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Devriendt K; Center for Human Genetics, KU Leuven, Leuven, Belgium., Gripp KW; Division of Medical Genetics, A.I. du Pont Hospital for Children/Nemours, USA, Wilmington, Delaware, USA., Mücke M; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany.; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany., Verloes A; Department of Clinical Genetics, Robert-Debré Hospital, Paris, France., Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany., Nellåker C; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, UK., Solomon BD; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Nöthen MM; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany., Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.; George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.; Biology PhD Program, The Graduate Center, The City University of New York, New York, United States of America., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 May 21. Date of Electronic Publication: 2024 May 21.
Autor:
Bhasin MA; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Incardona P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany.; Core Unit for Bioinformatics Data Analysis, Medical Faculty, University of Bonn, 53127 Bonn, Germany., Schmid A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Holtgrewe M; CUBI-Core Unit Bioinformatics, Berlin Institute of Health, 10117 Berlin, Germany., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, 52062 Aachen, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany.
Publikováno v:
Genes [Genes (Basel)] 2024 Mar 17; Vol. 15 (3). Date of Electronic Publication: 2024 Mar 17.
Autor:
La Rocca LA; Institute for Applied Mathematics, University of Bonn, Bonn, Germany., Frank J; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Bentzen HB; Centre for Medical Ethics, Faculty of Medicine, Univeristy of Oslo, Oslo, Norway., Pantel JT; Department of Digitalization and General Practice, University Hospital RWTH Aachen, Aachen, Germany., Gerischer K; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Bovier A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Krawitz PM; Institute for Applied Mathematics, University of Bonn, Bonn, Germany.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63452. Date of Electronic Publication: 2023 Nov 03.
Autor:
Rigter PMF; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., de Konink C; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Dunn MJ; Department of Biochemistry and Molecular Biology, University of Massachusetts, Amherst, MA 01003, USA., Proietti Onori M; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Humberson JB; Pediatric Specialty Care, University of Virginia Health, Charlottesville, VA 22903, USA., Thomas M; Division of Genetics, Department of Pediatrics, University of Virginia Children's, Charlottesville, VA 22903, USA., Barnes C; Division of Genetics, Department of Pediatrics, University of Virginia Children's, Charlottesville, VA 22903, USA., Prada CE; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Fundacion Cardiovascular de Colombia, Bucaramanga, Colombia., Weaver KN; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Ryan TD; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada; Stollery Children's Hospital, Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2B7, Canada., Conway J; Stollery Children's Hospital, Department of Pediatrics, Division of Pediatric Cardiology, University of Alberta, Edmonton, AB T6G 2B7, Canada., Calamaro E; Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA., Fong CT; Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA., Wuyts W; Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, 2650 Edegem, Belgium., Meuwissen M; Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, 2650 Edegem, Belgium., Hordijk E; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Jonkers CN; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Anderson L; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Yuseinova B; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Polonia S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Beysen D; Department of Paediatric Neurology, University Hospital of Antwerp, 2650 Edegem, Belgium; Department of Translational Neurosciences, University of Antwerp, 2650 Edegem, Belgium., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Australian Genomics, Melbourne, VIC 3052, Australia., Savva E; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Poulton C; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia., McKenzie F; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, WA 6009, Australia., Bhoj E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Bupp CP; Corewell Health & Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA., Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Blevins A; GeneDx, Gaithersburg, MD 20877, USA., Wentzensen IM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Xia F; 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; Baylor Genetics Laboratories, Houston, TX 77021, USA., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, 52074 Aachen, Germany., Veenma DCM; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Sophia Children's Hospital, Erasmus Medical Center, Rotterdam 3015 CN, the Netherlands., Schulman H; Department of Neurobiology, Stanford University, School of Medicine, Stanford, CA 94305, USA; Panorama Research Institute, Sunnyvale, CA 94089, USA., Stratton MM; Department of Biochemistry and Molecular Biology, University of Massachusetts, Amherst, MA 01003, USA., Küry S; Corewell Health & Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr., van Woerden GM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands. Electronic address: g.vanwoerden@erasmusmc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Feb 01; Vol. 111 (2), pp. 364-382. Date of Electronic Publication: 2024 Jan 24.
Autor:
Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bie I, Wegler M, Jamra RA, Kamphausen SB, Bothe V, Busch LM, Völker U, Hammer E, Wende K, Cogné B, Isidor B, Meiler J, Bosc-Rosati A, Marcoux J, Bousquet MP, Poschmann J, Laumonnier F, Hildebrand PW, Eichler EE, McWalter K, Krawitz PM, Droit A, Elgersma Y, Grabrucker AM, Bolduc FV, Bézieau S, Ebstein F, Krüger E
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jan 26. Date of Electronic Publication: 2024 Jan 26.
Autor:
Li D; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Wang Q; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark., Battig MR; Center for Applied Genomics, and., Zhou Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bosch DG; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Granger L; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA., Petersen AK; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA., Pérez-Jurado LA; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Genetic Service, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Universitat Pompeu Fabra, Barcelona, Spain., Aznar-Laín G; Universitat Pompeu Fabra, Barcelona, Spain.; Pediatric Neurology, Hospital del Mar Research Institute (IMIM), Barcelona, Spain., Aneja A; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Bendova S; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Schwarz M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Kremlikova Pourova R; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Sedlacek Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Keena BA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., March ME; Center for Applied Genomics, and., Hou C; Center for Applied Genomics, and., O'Connor N; Center for Applied Genomics, and., Bhoj EJ; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Harr MH; Center for Applied Genomics, and., Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Towne M; Ambry Genetics, Aliso Viejo, California, USA., Li M; Invitae, San Francisco, California, USA., Tarnopolsky M; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada., Brady L; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada., Parker MJ; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, United Kingdom., Faghfoury H; University Health Network, Toronto, Ontario, Canada., Parsley LK; University of Illinois College of Medicine, Mercy Health Systems, Rockford, Illinois, USA., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dentici ML; Medical Genetics Unit, Academic Department of Pediatrics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Wright M; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Palmquist R; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Lai K; Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, Utah, USA., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and., Iacomino M; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy., Zara F; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy., Cooper A; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, California, USA., Maarup TJ; Department of Genetics, Kaiser Permanente, Los Angeles, California, USA., Byler M; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA., Lebel RR; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA., Balci TB; Division of Genetics, Department of Paediatrics, London Health Sciences Centre, London, Ontario, Canada., Louie R; Greenwood Genetic Center, Greenwood, South Carolina, USA., Lyons M; Greenwood Genetic Center, Greenwood, South Carolina, USA., Douglas J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Nowak C; Division of Genetics and Metabolism, Mass General Hospital for Children, Boston, Massachusetts, USA., Afenjar A; APHP. SU, Reference Center for Intellectual Disabilities Caused by Rare Causes, Department of Genetics and Medical Embryology, Hôpital Trousseau, Paris, France., Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Keren B; Department of Genetics, Hospital Pitié-Salpêtrière, Paris, France., Maas SM; Department of Human Genetics, Academic Medical Center, and., Motazacker MM; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA., Rabani AM; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA., McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics., Falk MJ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics., Ruggiero SM; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Helbig I; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Møller RS; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Tessarollo L; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA., Tomassoni Ardori F; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA., Palko ME; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Ganapathi M; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA., Gelb BD; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine, New York, New York, USA., Jobanputra V; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA., Wilson A; New York Genome Center, New York, New York, USA., Greally J; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA., Jacquemont S; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada., Jizi K; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada., Bruel AL; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Translational Medicine in Developmental Anomalies, CHU Dijon Bourgogne, Dijon, France., Quelin C; Medical Genetics Department, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France., Misra VK; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Central Michigan University College of Medicine, Discipline of Pediatrics, Mount Pleasant, Michigan, USA., Chick E; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA., Romano C; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy., Greco D; Oasi Research Institute-IRCCS, Troina, Italy., Arena A; Oasi Research Institute-IRCCS, Troina, Italy., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Seyama R; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan., Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Taira R; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Tashiro K; Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan., Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany., Wagner M; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany., Kutsche B; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany., Hurst AC; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Schmidt R; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA., Randolph L; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Division of Medical Genetics, Children's Hospital Los Angeles, California, USA., Spillmann RC; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Shashi V; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Higginbotham EJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, and., Cordeiro D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Carnevale A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Khan T; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Funalot B; Department of Genetics, Hôpital Henri-Mondor APHP and CHI Creteil, University Paris Est Creteil, IMRB, Inserm U.955, Creteil, France., Tran Mau-Them F; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France., Fernandez Garcia Moya L; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain., García-Miñaúr S; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Chad L; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Quercia N; Department of Genetic Counselling, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Ottawa, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, Texas, USA., Li C; Division of Genetics, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada., Sanchez-Valle A; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA., Kelley M; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA., Nizon M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Jensson BO; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Sulem P; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Stefansson K; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland., Gorokhova S; Aix Marseille University, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France., Busa T; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France., Rio M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Hadj Habdallah H; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Amiel J; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France., Pingault V; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France., Mercier S; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Vincent M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Philippe C; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France., Fatus-Fauconnier C; Reference Center for Hereditary Metabolic Diseases, CHU Dijon Bourgogne, Dijon, France., Friend K; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Halligan RK; Metabolic Clinic, and., Biswas S; Metabolic Clinic, and., Rosser J; Department of General Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia., Shoubridge C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia., Corbett M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia., Barnett C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Pediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Leppig K; Genetic Services, Kaiser Permenante of Washington, Seattle, Washington, USA., Slavotinek A; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries BB; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Cogne B; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France., Rambaud T; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Song Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Hakonarson H; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2024 Jan 02; Vol. 134 (1). Date of Electronic Publication: 2024 Jan 02.
Autor:
Schmetz A; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany. ariane.schmetz@hhu.de., Lüdecke HJ; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany., Surowy H; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany., Sivalingam S; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany., Bruel AL; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, 21000, Dijon, France., Caumes R; CHU Lille, Clinique de Génétique, 59000, Lille, France., Charles P; Assistance Publique-Hôpitaux de Paris, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Chatron N; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261-INSERM U1315, Université de Lyon-Université Claude Bernard Lyon 1, Lyon, France., Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Codina-Solà M; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035, Barcelona, Spain., Colson C; CHU Lille, Clinique de Génétique, 59000, Lille, France., Cuscó I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035, Barcelona, Spain., Denommé-Pichon AS; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, 21000, Dijon, France., Edery P; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Centre de Recherche en Neurosciences de Lyon, Equipe GENDEV, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France., Faivre L; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD et Institut GIMI, Dijon Bourgogne University Hospital, 21000, Dijon, France., Green A; Department of Clinical Genetics, Children's Health Ireland at Crumlin, and University College Dublin School of Medicine and Medical Science, Dublin, Ireland., Heide S; Assistance Publique-Hôpitaux de Paris, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Hustinx A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Kleinendorst L; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074, Aachen, Germany., Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074, Aachen, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Lasa-Aranzasti A; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035, Barcelona, Spain., Lesca G; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261-INSERM U1315, Université de Lyon-Université Claude Bernard Lyon 1, Lyon, France., López-González V; Sección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA), IMIB-Arrixaca, El Palmar, Murcia, Spain., Maraval J; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon Bourgogne University Hospital, 21000, Dijon, France., Mignot C; Assistance Publique-Hôpitaux de Paris, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Neuhann T; Medizinisch Genetisches Zentrum, Munich, Germany., Netzer C; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Oehl-Jaschkowitz B; BIOSCIENTIA MVZ Labor Saar, Praxis Für Humangenetik, Homburg Saar, Germany., Petit F; CHU Lille, Clinique de Génétique, 59000, Lille, France., Philippe C; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, 21000, Dijon, France.; Laboratory of Human Genetics, CHR Metz Thionville, Hôpital Mercy, Metz, France., Posmyk R; Department of Clinical Genetics, Medical University in Bialystok, Bialystok, Poland., Putoux A; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Centre de Recherche en Neurosciences de Lyon, Equipe GENDEV, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), 91054, Erlangen, Germany., Sánchez-Soler MJ; Sección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA), IMIB-Arrixaca, El Palmar, Murcia, Spain., Suh J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074, Aachen, Germany.; Centre for Rare Diseases Aachen (ZSEA), 52076, Aachen, Germany., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia., Tran Mau Them F; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, 21000, Dijon, France., Travessa A; Medical Genetics Department, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal., Trujillano L; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035, Barcelona, Spain., Valenzuela I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035, Barcelona, Spain., van Haelst MM; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), 91054, Erlangen, Germany., Vincent-Delorme C; CHU Lille, Clinique de Génétique, 59000, Lille, France., Walther M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany., Verde P; Coordination Centre for Clinical Trials, Heinrich Heine University Düsseldorf, 40225, Düsseldorf, Germany., Bramswig NC; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany.; Center for Rare Diseases, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, 40225, Düsseldorf, Germany.
Publikováno v:
Human genetics [Hum Genet] 2024 Jan; Vol. 143 (1), pp. 71-84. Date of Electronic Publication: 2023 Dec 20.
Autor:
Rassmann S; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Venusberg-Campus 1 Building 11, 2nd Floor, 53127, Bonn, Germany., Keller A; Kinderzentrum Am Johannisplatz, Leipzig, Germany., Skaf K; Medical Faculty, Otto-Von-Guericke-University Magdeburg, Magdeburg, Germany., Hustinx A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Venusberg-Campus 1 Building 11, 2nd Floor, 53127, Bonn, Germany., Gausche R; CrescNet - Wachstumsnetzwerk, Medical Faculty, University Hospital Leipzig, Leipzig, Germany., Ibarra-Arrelano MA; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Venusberg-Campus 1 Building 11, 2nd Floor, 53127, Bonn, Germany., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Venusberg-Campus 1 Building 11, 2nd Floor, 53127, Bonn, Germany., Madajieu YED; Medical Faculty, Otto-Von-Guericke-University Magdeburg, Magdeburg, Germany., Nöthen MM; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany., Pfäffle R; Department for Pediatrics, University Hospital Leipzig, Leipzig, Germany., Attenberger UI; Department of Diagnostic and Interventional Radiology, University Hospital Bonn, Bonn, Germany., Born M; Division of Paediatric Radiology, Department of Radiology, University Hospital Bonn, Bonn, Germany., Mohnike K; Medical Faculty, Otto-Von-Guericke-University Magdeburg, Magdeburg, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Venusberg-Campus 1 Building 11, 2nd Floor, 53127, Bonn, Germany., Javanmardi B; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Venusberg-Campus 1 Building 11, 2nd Floor, 53127, Bonn, Germany. behnam.javanmardi@uni-bonn.de.
Publikováno v:
Pediatric radiology [Pediatr Radiol] 2024 Jan; Vol. 54 (1), pp. 82-95. Date of Electronic Publication: 2023 Nov 13.