Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Autor: Rots D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia., Choufani S; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de Los Alimentos (INTA), Universidad de Chile, Santiago, Chile; 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, UK., Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK., Jones EA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Stewart S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester LE1 7RH, UK., Dabir T; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, UK., Park SM; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Jewell R; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Brown N; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Melbourne, VIC, Australia., Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Jacquemont S; Department of Pediatrics, University of Montreal, Montreal, QC, Canada., Jizi K; Service de Génétique Médicale, CHU Ste-Justine, Montréal, QC, Canada., Ravenswaaij-Arts CMAV; University of Groningen, University Medical Centre Groningen, Department Genetics, Groningen, the Netherlands., Kroes HY; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; GROW-School for Oncology and Reproduction, Maastricht, the Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Nizon M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Vincent M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Cogné B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Besnard T; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Kambouris M; Division of Genetics, Department of Pathology and Laboratory Medicine Department, Sidra Medicine, Doha, Qatar., Anderson E; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., McDougall C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Donoghue S; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., O'Donnell-Luria A; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Valivullah Z; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Leary M; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Byers H; Department of Pediatrics, Stanford University, Stanford, CA, USA., Leslie N; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Mazzola S; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA., Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA., Vera M; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA., Shen JJ; Division of Genetics, Department of Pediatrics, UCSF Fresno, Fresno, CA, USA; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, CA, USA., Boles R; NeuraBilities Healthcare, Philadelphia, PA, USA., Jain V; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Longwood Drive, Whitchurch, Cardiff CF14 7YU, UK., Brischoux-Boucher E; Centre de Génétique Humaine, CHU de Besançon, Université de Franche-Comté, Besançon, France., Kinning E; Clinical Genetics, Birmingham Women's and Children's, Birmingham, UK., Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA., Giltay JC; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Harris J; Kennedy Krieger Institute, Baltimore, MD, USA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Keren B; Department of Genetics, APHP Sorbonne University, Paris, France., Guimier A; Service de Médecine Genomique des Maladies Rares, CRMR Anomalies Du Développement, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France., Marijon P; Laboratoire de Biologie Médicale Multisites Seqoia FMG2025, 75014 Paris, France., Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Motter CS; Genetic Center, Akron Children's Hospital, Akron, OH, USA., Mendelsohn BA; Department of Medical Genetics, Kaiser Permanente, Oakland, CA, USA., Coffino S; Department of Pediatric Neurology, Kaiser Permanente, Oakland, CA, USA., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Afenjar A; APHP Sorbonne Université, Centre de Référence Malformations et Maladies Congénitales Du Cervelet et Déficiences Intellectuelles de Causes Rares, Département de Génétique et Embryologie Médicale, Hôpital Trousseau, Paris, France., Visconti P; IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOSI Disturbi Dello Spettro Autistico, Bologna, Italy., Bacchelli E; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy., Maestrini E; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy., Delahaye-Duriez A; Medical Genomics and Clinical Genetics Unit, AP-HP, Hôpital Jean Verdier, Bondy, France., Gooch C; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA., Hendriks Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Adams H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands., Thauvin-Robinet C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia., Bertoli M; Northern Genetics Service, Newcastle Upon Tyne NHS Foundation Trust, Newcastle Upon Tyne, UK., Parker MJ; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK., Rutten JW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, Canada., Vernon HJ; Johns Hopkins University School of Medicine, Baltimore, MD, USA., Kaziyev J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Zhu J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Kremen J; Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Frazier Z; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Osika H; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Breault D; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Nair S; Department of Fetal Medicine, Lifeline Super Specialty Hospital, Kerala, India., Lewis SME; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada., Ceroni F; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK., Viggiano M; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy., Posar A; IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOSI Disturbi Dello Spettro Autistico, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Brittain H; Department of Clinical Genetics, Birmingham Women's & Children's NHS Trust, Birmingham, UK., Giovanna T; Medical Genetics Unit, Meyer Children's Hospital IRCCS Florence, Florence, Italy., Giulia G; Medical Genetics Unit,Meyer Children's Hospital IRCCS, Florence, Italy., Quteineh L; Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Ha-Vinh Leuchter R; Division of Development and Growth, Department of Pediatrics, University of Geneva, Geneva, Switzerland., Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Mellado C; Sección de Genética y Errores Congénitos Del Metabolismo, División de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile., Marey I; CHU Grenoble Alpes, Grenoble, France., Coudert A; CHU Grenoble Alpes, Grenoble, France., Aracena Alvarez MI; Unit of Genetics and Metabolic Diseases, Division of Pediatrics, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile., Kennis MGP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Bouman A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Roifman M; The Prenatal Diagnosis and Medical Genetics Program, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynaecology, University of Toronto, Toronto, Canada., Amorós Rodríguez MI; Deparment of Pediatrics, Hospital Punta Europa Algeciras, Cadiz, Spain., Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain., Vernimmen V; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; GROW-School for Oncology and Reproduction, Maastricht, the Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl., Weksberg R; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. Electronic address: rweksb@sickkids.ca., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; 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, UK.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Aug 08; Vol. 111 (8), pp. 1626-1642. Date of Electronic Publication: 2024 Jul 15.

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.

Autor: Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Artificial Intelligence, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands., Hinne M; Department of Artificial Intelligence, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands., Truijen KMG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Goltstein L; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van Reeuwijk J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., de Leeuw N; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Schuurs-Hoeijmakers J; 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., Diets IJ; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., den Hoed J; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands., de Boer E; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Coenen-van der Spek J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Jansen S; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., van Bon BW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Jonis N; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Campeau PM; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada., Palmer EE; Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.; Sydney Children's Hospitals Network, Sydney, New South Wales, Australia., Van Esch H; Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium., Lyon GJ; Department of Human Genetics and George A. Jervis Clinic, Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, USA.; Biology PhD Program, The Graduate Center, The City University of New York, New York City, NY, USA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Rauch A; Institute of Medical Genetics, University of Zürich, Zürich, Switzerland., Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Baralle D; Faculty of Medicine, University of Southampton, Southampton, UK., van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., van Gerven MAJ; Department of Artificial Intelligence, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. lisenka.vissers@radboudumc.nl., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. bert.devries@radboudumc.nl.

Publikováno v: Nature genetics [Nat Genet] 2023 Sep; Vol. 55 (9), pp. 1598-1607. Date of Electronic Publication: 2023 Aug 07.

Clinical, Pathology, Genetic, and Molecular Features of Colorectal Tumors in Adolescents and Adults 25 Years or Younger.

Autor: de Voer RM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: richarda.devoer@radboudumc.nl., Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van der Post RS; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands., Weren RDA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Kamping EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Bitter TJJ; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands., Elze L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Verhoeven RHA; Department of Surgery, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Research and Development, Netherlands Comprehensive Cancer Organisation, Utrecht, The Netherlands., Vink-Börger E; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands., Eijkelenboom A; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands., Mensenkamp A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Nagtegaal ID; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Jongmans MCJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Ligtenberg MJL; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.

Publikováno v: Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association [Clin Gastroenterol Hepatol] 2021 Aug; Vol. 19 (8), pp. 1642-1651.e8. Date of Electronic Publication: 2020 Jun 22.

Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.

Autor: Lezzerini M; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Penzo M; Laboratorio di Patologia Clinica, Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale and Centro di Ricerca Biomedica Applicata (CRBA), Policlinico Universitario di S. Orsola, Università di Bologna,Via Massarenti 9, 40138 Bologna, Italy., O'Donohue MF; LBME, Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, UPS, 31000 Toulouse, France., Marques Dos Santos Vieira C; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA., Saby M; INSERM UMR S1134, F-75015, Paris, France., Elfrink HL; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Core Facility Metabolomics, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hesse AM; University Grenoble Alpes, CEA, INSERM, IRIG, BGE, F-38000 Grenoble, France., Couté Y; University Grenoble Alpes, CEA, INSERM, IRIG, BGE, F-38000 Grenoble, France., Gastou M; Paris University, Paris, France.; Laboratory of Excellence for Red Cell, LABEX GR-Ex, F-75015, Paris, France.; Institute Gustave Roussy, Inserm unit U1170, F-94800 Villejuif, France., Nin-Velez A; Department of Comparative Biology and Center for Cancer Research, Purdue University, West Lafayette, IN 47907, USA., Nikkels PGJ; Department of Pathology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Olson AN; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA., Zonneveld-Huijssoon E; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands.; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Jongmans MCJ; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands.; Princess Maxima Center for Pediatric Oncology and Utrecht University Children's Hospital, Utrecht, The Netherlands., Zhang G; Department of Comparative Biology and Center for Cancer Research, Purdue University, West Lafayette, IN 47907, USA., van Weeghel M; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Core Facility Metabolomics, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Houtkooper RH; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Wlodarski MW; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, D-79106 Freiburg, Germany.; St. Jude's Children Research Hospital, Memphis, TN, USA., Kuiper RP; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands., Bierings MB; Princess Maxima Center for Pediatric Oncology and Utrecht University Children's Hospital, Utrecht, The Netherlands., van der Werff Ten Bosch J; Department of Pediatrics, Universitair Ziekenhuis Brussel, Brussels, Belgium., Leblanc T; Pediatric Hematology/Oncology Service, Robert Debré Hospital, F-75019 Paris, France., Montanaro L; Laboratorio di Patologia Clinica, Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale and Centro di Ricerca Biomedica Applicata (CRBA), Policlinico Universitario di S. Orsola, Università di Bologna,Via Massarenti 9, 40138 Bologna, Italy., Dinman JD; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA., Da Costa L; INSERM UMR S1134, F-75015, Paris, France.; Paris University, Paris, France.; Laboratory of Excellence for Red Cell, LABEX GR-Ex, F-75015, Paris, France.; Hematology Lab, Robert Debré Hospital, F-75019 Paris, France., Gleizes PE; LBME, Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, UPS, 31000 Toulouse, France., MacInnes AW; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

Publikováno v: Nucleic acids research [Nucleic Acids Res] 2020 Jan 24; Vol. 48 (2), pp. 770-787.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

Autor: Diets IJ; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., van der Donk R; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands., Baltrunaite K; Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA., Waanders E; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands., Reijnders MRF; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, 6229HX Maastricht, the Netherlands., Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Wiel L; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Thevenon J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, 21079 Dijon, France; Equipe Génétique des Anomalies du Développement, Université de Bourgogne-France Comté, 21070 Dijon, France., Perrin L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, 21079 Dijon, France., Afenjar A; APHP, Département de Génétique et Embryologie Médicale, Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC n°19, ConCer-LD, Hôpital Armand Trousseau, 75012 Paris, France., Nava C; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Institut National de la Santé et de la Recherche Médicale U1127, Centre National de la Recherche Scientifique UMR 7225, 75013, Paris, France., Keren B; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France., Bartz S; Division of Endocrinology, Children's Hospital of Colorado, Aurora, CO 80045, USA., Peri B; Division of Endocrinology, Children's Hospital of Colorado, Aurora, CO 80045, USA., Beunders G; Department of Clinical Genetics, VU University Medical Center, 1081HV Amsterdam, the Netherlands., Verbeek N; Department of Genetics, University Medical Center Utrecht, 3508AB Utrecht, the Netherlands., van Gassen K; Department of Genetics, University Medical Center Utrecht, 3508AB Utrecht, the Netherlands., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 66211, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 66211, USA; University of Missouri, Kansas City School of Medicine, Kansas City, MO 66211, USA., Cadieux-Dion M; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 66211, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 66211, USA., Huerta-Saenz L; Children's Mercy Hospital, Kansas City, MO 66211, USA; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Penn State Hershey Children's Hospital, Hershey, PA 17033, USA., Wagner M; Institute of Human Genetics, Technische Universität München, 80333 Munich, Germany; Institute for Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute for Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Konstantopoulou V; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria., Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria., Griese M; Dr. von Hauner Children's Hospital, Division of Pediatric Pneumology, University Hospital Munich, German Center for Lung Research, 80333 Munich, Germany., Boel A; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., Callewaert B; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., Brunner HG; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, 6525GA Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202AZ Maastricht, the Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, 6525GA Nijmegen, the Netherlands., Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Hwa V; Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA., Dauber A; Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA; Division of Endocrinology, Children's National Health System, Washington, DC 20010, USA., Hehir-Kwa JY; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands., Kuiper RP; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands., Jongmans MCJ; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3508AB Utrecht, the Netherlands. Electronic address: m.c.j.jongmans-3@umcutrecht.nl.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2019 Apr 04; Vol. 104 (4), pp. 758-766. Date of Electronic Publication: 2019 Mar 28.