Corrigendum: Intrafamilial variability in SLC6A1 -related neurodevelopmental disorders.

Autor: Kassabian B; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Neurology Unit, Department of Neuroscience, University of Padua, Padua, Italy., Fenger CD; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Amplexa Genetics, Odense, Denmark., Willems M; Département Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier Institute for Neurosciences of Montpellier, Univ Montpellier, INSERM, Montpellier, France., Aledo-Serrano A; Epilepsy and Neurogenetics Program-Vithas Madrid La Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain., Linnankivi T; Department of Pediatric Neurology, New Children's Hospital and Pediatric Research Center, Epilepsia Helsinki, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., McDonnell PP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Lusk L; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Jepsen BS; Pediatric Department, Danish Epilepsy Center, Dianalund, Denmark., Bayat M; Department of Neurology and Center for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Kattentidt-Mouravieva AA; Stichting Zuidwester, Middelharnis, Netherlands., Vidal AA; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Valero-Lopez G; Neurology Department, Virgen de la Arrixaca University Hospital, Murcia, Spain., Alarcon-Martinez H; Department of Pediatric Neurology, Virgen de la Arrixaca University Hospital, Murcia, Spain., Goodspeed K; Department of Pediatrics, Division of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States.; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, Netherlands., Møller RS; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark., Johannesen KM; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark., Rubboli G; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Publikováno v: Frontiers in neuroscience [Front Neurosci] 2023 Aug 11; Vol. 17, pp. 1270299. Date of Electronic Publication: 2023 Aug 11 (Print Publication: 2023).

What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes'.

Autor: Rosenberg AGW; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Prader-Willi Syndrome, 3015 GD Rotterdam, The Netherlands., Pater MRA; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands., Pellikaan K; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Prader-Willi Syndrome, 3015 GD Rotterdam, The Netherlands., Davidse K; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Prader-Willi Syndrome, 3015 GD Rotterdam, The Netherlands., Kattentidt-Mouravieva AA; Stichting Zuidwester, 3241 LB Middelharnis, The Netherlands., Kersseboom R; Stichting Zuidwester, 3241 LB Middelharnis, The Netherlands., Bos-Roubos AG; Center of Excellence for Neuropsychiatry, Vincent van Gogh, 5803 DN Venray, The Netherlands., van Eeghen A; 's Heeren Loo, Care Group, 3818 LA Amersfoort, The Netherlands.; Department of Pediatrics, Amsterdam University Medical Center, 1105 AZ Amsterdam, The Netherlands.; Academic Center for Growth Disorders, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands., Veen JMC; 's Heeren Loo, Care Providing Agency, 6733 SC Wekerom, The Netherlands., van der Meulen JJ; 's Heeren Loo, Care Providing Agency, 6733 SC Wekerom, The Netherlands., van Aalst-van Wieringen N; Department of Physical Therapy, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands., Hoekstra FME; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; Department of Internal Medicine, Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., van der Lely AJ; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands., de Graaff LCG; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Prader-Willi Syndrome, 3015 GD Rotterdam, The Netherlands.; Academic Center for Growth Disorders, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; ENCORE-Dutch Center of Reference for Neurodevelopmental Disorders, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Turner Syndrome, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Disorders of Sex Development, 3015 GD Rotterdam, The Netherlands.

Publikováno v: Journal of clinical medicine [J Clin Med] 2021 Nov 22; Vol. 10 (22). Date of Electronic Publication: 2021 Nov 22.

Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.

Autor: Besterman AD; University of California Los Angeles, Semel Institute for Neuroscience and Human Behavior, Los Angeles, California, United States of America.; University of California Los Angeles, Division of Child and Adolescent Psychiatry, Department of Psychiatry, Los Angeles, California, United States of America.; University of California Los Angeles, Division of Medical Genetics, Department of Pediatrics, Los Angeles, California, United States of America.; University of California San Diego Department of Psychiatry, Division of Child and Adolescent Psychiatry, San Diego, California, United States of America.; Rady Children's Hospital of San Diego, San Diego, California, United States of America.; Rady Children's Institute for Genomic Medicine, San Diego, California, United States of America., Althoff T; Department of Physiology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America., Elfferich P; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Gutierrez-Mejia I; University of California Los Angeles, Division of Medical Genetics, Department of Pediatrics, Los Angeles, California, United States of America.; University of California Los Angeles, Department of Human Genetics, Los Angeles, California, United States of America., Sadik J; University of California Los Angeles, David Geffen School of Medicine, Los Angeles, California, United States of America., Bernstein JA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California, United States of America., van Ierland Y; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Kattentidt-Mouravieva AA; Zuidweste Foundation, Middelharnis, The Netherlands., Nellist M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Abramson J; Department of Physiology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America., Martinez-Agosto JA; University of California Los Angeles, Semel Institute for Neuroscience and Human Behavior, Los Angeles, California, United States of America.; University of California Los Angeles, Division of Medical Genetics, Department of Pediatrics, Los Angeles, California, United States of America.; University of California Los Angeles, Department of Human Genetics, Los Angeles, California, United States of America.

Publikováno v: PLoS genetics [PLoS Genet] 2021 Jul 01; Vol. 17 (7), pp. e1009651. Date of Electronic Publication: 2021 Jul 01 (Print Publication: 2021).

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Autor: den Hoed J; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands., de Boer E; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands., Voisin N; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland., Dingemans AJM; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands., Guex N; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; Bioinformatics Competence Center, University of Lausanne, 1015 Lausanne, Switzerland., Wiel L; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Center for Molecular and Biomolecular Informatics of the Radboudumc, 6500 HB Nijmegen, the Netherlands., Nellaker C; Nuffield Department of Women's and Reproductive Health, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford OX3 9DU, UK; Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford OX3 7DQ, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7LF, UK., Amudhavalli SM; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA., Banka S; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Bena FS; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland., Ben-Zeev B; Edmomd and Lilly Safra Pediatric Hospital, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel., Bonagura VR; Institute of Molecular Medicine, Feinstein Institutes for Medical Research, Manhasset, NY 11030, USA; Pediatrics and Molecular Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA., Bruel AL; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France., Brunet T; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany., Brunner HG; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, and MHeNS School for Mental health and Neuroscience, PO Box 5800, 6202AZ Maastricht, the Netherlands., Chew HB; Department of Genetics, Kuala Lumpur Hospital, Jalan Pahang, 50586 Kuala Lumpur, Malaysia., Chrast J; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland., Cimbalistienė L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania., Coon H; Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT 84112, USA., Délot EC; Center for Genetic Medicine Research, Children's National Hospital, Children's Research Institute and Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20010, USA., Démurger F; Department of clinical genetics, Vannes hospital, 56017 Vannes, France., Denommé-Pichon AS; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France., Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany., Donnai D; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada., Elpeleg O; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel., Faivre L; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France., Gilissen C; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Granger L; Department of Rehabilitation and Development, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, OR 97227, USA., Haber B; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Hachiya Y; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan., Abedi YH; Division of Allergy and Immunology, Northwell Health, Great Neck, NY 11021, USA; Departments of Medicine and Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA., Hanebeck J; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Hehir-Kwa JY; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, the Netherlands., Horist B; Pediatrics & Genetics, Alpharetta, GA 30005, USA., Itai T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan., Jackson A; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK., Jewell R; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds LS7 4SA, UK., Jones KL; Division of Medical Genetics & Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA 23507, USA., Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Kashii H; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan., Kato M; Department of Pediatrics, Showa University School of Medicine, Shinagawa-ku, Tokyo 142-8666, Japan., Kattentidt-Mouravieva AA; Zuidwester, 3240AA Middelharnis, the Netherlands., Kok F; Mendelics Genomic Analysis, Sao Paulo, SP 04013-000, Brazil; University of Sao Paulo, School of Medicine, Sao Paulo, SP 01246-903, Brazil., Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Krishnamurthy V; Pediatrics & Genetics, Alpharetta, GA 30005, USA., Kučinskas V; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania., Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany., Lavillaureix A; CHU Rennes, Univ Rennes, CNRS, IGDR, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, 35033 Rennes, France., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Manwaring L; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110-1093, USA., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan., Mazel B; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France., McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Meiner V; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel., Mikati MA; Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan., Moey LH; Department of Genetics, Penang General Hospital, Jalan Residensi, 10990 Georgetown, Penang, Malaysia., Mohammed S; Clinical Genetics, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK., Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel., Mountford H; Department of Biological and Medical Sciences, Headington Campus, Oxford Brookes University, Oxford OX3 0BP, UK., Newbury-Ecob R; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol BS2 8EG, UK., Odent S; CHU Rennes, Univ Rennes, CNRS, IGDR, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, 35033 Rennes, France., Orec L; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Osmond M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada., Palculict TB; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Parker M; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S5 7AU, UK., Petersen AK; Department of Rehabilitation and Development, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, OR 97227, USA., Pfundt R; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands., Preikšaitienė E; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania., Radtke K; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA 92656, USA., Ranza E; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Santiago-Sim T; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Schwager C; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center+, azM, 6202 AZ Maastricht, the Netherlands; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, 6229 ER Maastricht, the Netherlands., Snijders Blok L; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands., Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27713, USA., Stegmann APA; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, azM, 6202 AZ Maastricht, the Netherlands., Thiffault I; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Tran L; Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA., Vaknin-Dembinsky A; Department of Neurology and Laboratory of Neuroimmunology, The Agnes Ginges Center for Neurogenetics, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, 91120 Jerusalem, Israel., Vedovato-Dos-Santos JH; Mendelics Genomic Analysis, Sao Paulo, SP 04013-000, Brazil., Schrier Vergano SA; Division of Medical Genetics & Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA., Vilain E; Center for Genetic Medicine Research, Children's National Hospital, Children's Research Institute and Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20010, USA., Vitobello A; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France., Wagner M; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany., Waheeb A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Willing M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110-1093, USA., Zuccarelli B; The University of Kansas School of Medicine Salina Campus, Salina, KS 67401, USA., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK., Newbury DF; Department of Biological and Medical Sciences, Headington Campus, Oxford Brookes University, Oxford OX3 0BP, UK., Kleefstra T; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands., Reymond A; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland., Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands. Electronic address: simon.fisher@mpi.nl., Vissers LELM; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2021 Feb 04; Vol. 108 (2), pp. 346-356. Date of Electronic Publication: 2021 Jan 28.

Disruption of HNF1α binding site causes inherited severe unconjugated hyperbilirubinemia.

Autor: van Dijk R; Department of Gastroenterology and Hepatology and Tytgat Institute for Liver and Intestinal Research, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands., Mayayo-Peralta I; Department of Gastroenterology and Hepatology and Tytgat Institute for Liver and Intestinal Research, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands., Aronson SJ; Department of Gastroenterology and Hepatology and Tytgat Institute for Liver and Intestinal Research, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands., Kattentidt-Mouravieva AA; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., van der Mark VA; Department of Gastroenterology and Hepatology and Tytgat Institute for Liver and Intestinal Research, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands., de Knegt R; Department of Gastroenterology and Hepatology, Erasmus Medical Centre, Rotterdam, The Netherlands., Oruc N; Department of Gastroenterology and Hepatology, Ege University, Bornova Izmir, Turkey., Beuers U; Department of Gastroenterology and Hepatology and Tytgat Institute for Liver and Intestinal Research, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands., Bosma PJ; Department of Gastroenterology and Hepatology and Tytgat Institute for Liver and Intestinal Research, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: p.j.bosma@amc.uva.nl.

Publikováno v: Journal of hepatology [J Hepatol] 2015 Dec; Vol. 63 (6), pp. 1525-9. Date of Electronic Publication: 2015 Jul 26.