BRCC3-Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing.

Autor: Venema M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Albuainain F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Roozenbeek B; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Sleutels F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Ham T; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

Publikováno v: Clinical genetics [Clin Genet] 2024 Nov 17. Date of Electronic Publication: 2024 Nov 17.

Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder.

Autor: Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell P, Millard J, Lee R, Cohen A, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Mancini GM, Schot R, Barakat TS, Richmond CM, Lauzon J, Elsayed Ibrahim AI, Benito DN, Ortez C, Estevez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G, Korb E

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Nov 02. Date of Electronic Publication: 2024 Nov 02.

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.

Autor: Furia F; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark., Levy AM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark., Theunis M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA., Bartos MN; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Brancati F; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Human Functional Genetics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Roma, Rome, Italy., Cejudo L; CHU de Poitiers, Service de Génétique, Poitiers, France., Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA., De Luca C; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy., Dean SJ; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Egense A; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA., Goel H; General Genetics Service, Hunter Genetics, Waratah, New South Wales, Australia.; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia., Guenzel AJ; GeneDx Inc., Gaithersburg, Maryland, USA., Hüffmeier U; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany., Legius E; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Marcos-Alcalde I; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Niclass T; CHU de Poitiers, Service de Génétique, Poitiers, France., Planes M; Service de Génétique Clinique, CHRU de Brest, Brest, France., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France., Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Rouault K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France., Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany., Shen JJ; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA., Tao AM; Vagelos School of Physicians and Surgeons, Columbia University, New York, New York, USA., Thiffault I; Department of Pathology, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USA., Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Laboratory for the Genetics of Cognition, KU Leuven, Leuven, Belgium., Wentzensen IM; GeneDx Inc., Gaithersburg, Maryland, USA., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark., Gomez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Chung WK; Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Gardella E; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark.; Department of Neurophysiology, The Danish Epilepsy Centre, Dianalund, Denmark., Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Publikováno v: Clinical genetics [Clin Genet] 2024 Nov; Vol. 106 (5), pp. 574-584. Date of Electronic Publication: 2024 Jul 11.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

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., Mazlan RAB; 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: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Oct 08. Date of Electronic Publication: 2024 Oct 08.

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Autor: Cuinat S; Service de Génétique Clinique, CRMR anomalies du développement CLAD-Ouest, CHU Rennes, Rennes, France silvestre.cuinat@hotmail.fr., Quélin C; Service de Génétique Clinique, CRMR anomalies du développement CLAD-Ouest, CHU Rennes, Rennes, France.; Service d'Anatomie et Cytologie Pathologiques, Hôpital Pontchaillou, CHU Rennes, Rennes, France., Effray C; Service de Génétique Clinique, CRMR anomalies du développement CLAD-Ouest, CHU Rennes, Rennes, France., Dubourg C; Laboratoire de Génétique Moléculaire, Hôpital Pontchaillou, CHU Rennes, Rennes, France.; CNRS, INSERM UMR 6290, ERL U1305, F-35000, Université de Rennes, IGDR, Rennes, France., Le Bouar G; Unité de Médecine fœtale, Service de Gynécologie-Obstétrique, CHU Rennes, Rennes, France., Cabaret-Dufour AS; Unité de Médecine fœtale, Service de Gynécologie-Obstétrique, CHU Rennes, Rennes, France., Loget P; Service d'Anatomie et Cytologie Pathologiques, Hôpital Pontchaillou, CHU Rennes, Rennes, France., Proisy M; Radiology Department, CHU de Brest, Brest, France., Sauvestre F; Unité de Pathologie Fœto-placentaire, Service de Pathologie, CHU de Bordeaux, Bordeaux, France., Sarreau M; Unité de Pathologie Fœto-placentaire, Service de Pathologie, CHU de Bordeaux, Bordeaux, France., Martin-Berenguer S; Unité de Pathologie Fœto-placentaire, Service de Pathologie, CHU de Bordeaux, Bordeaux, France.; Department of Gynaecology and Obstetrics, Mother and Children's Hospital, CHU Limoges, Limoges, France., Beneteau C; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France., Naudion S; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France., Michaud V; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France., Arveiler B; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France., Trimouille A; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France., Macé P; Institut méditerranéen d'imagerie médicale appliquée à la gynécologie, la grossesse et l'enfance IMAGE2, Marseille, France., Sigaudy S; Département de Génétique Médicale, Hôpital Timone Enfant, AP-HM, Marseille, France., Glazunova O; Département de Génétique Médicale, Hôpital Timone Enfant, AP-HM, Marseille, France., Torrents J; Department of Pathology and Neuropathology, La Timone Hospital, Aix Marseille University, AP-HM, Marseille, France., Raymond L; Genetics Department, Laboratoire Eurofins Biomnis, Lyon, France., Saint-Frison MH; Foetopathology Unit, AP-HP Nord, Hôpital Robert Debré, Paris, France., Attié-Bitach T; Service de Médecine Génomique des Maladies Rares, Hopital Universitaire Necker-Enfants Malades, AP-HP, Paris, France.; INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France., Lefebvre M; Service de Pathologie fœtale, Hôpital Universitaire Armand Trousseau, AP-HP, Paris, France., Capri Y; Département de Génétique, Hôpital Robert Debré, AP-HP, Paris, France., Bourgon N; Service d'Obstétrique-Maternité Chirurgie, Médecine et Imagerie foetales, AP-HP, Hopital Universitaire Necker-Enfants Malades, Paris, France.; UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France., Thauvin-Robinet C; UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France.; Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, Dijon, France., Tran Mau-Them F; UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France., Bruel AL; UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France., Vitobello A; UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France., Denommé-Pichon AS; UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France., Faivre L; UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France.; Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, Dijon, France., Brehin AC; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, F-76000, CHU de Rouen, Rouen, France.; Inserm U1245, Université de Rouen Normandie, Rouen, France., Goldenberg A; Inserm U1245, Université de Rouen Normandie, Rouen, France.; Department of Genetics and Reference Center for Developmental Abnormalities, F-76000, CHU de Rouen, Rouen, France., Patrier-Sallebert S; Service de Fœtopathologie, CHU de Rouen, Rouen, France., Perani A; Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France., Dauriat B; Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France., Bourthoumieu S; Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France.; UMR 7252, CNRS, XLIM, F-87000, Université de Limoges, Limoges, France., Yardin C; Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France.; UMR 7252, CNRS, XLIM, F-87000, Université de Limoges, Limoges, France., Marquet V; Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France., Barnique M; Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France., Fiorenza-Gasq M; Department of Gynaecology and Obstetrics, Mother and Children's Hospital, CHU Limoges, Limoges, France., Marey I; INSERM U1209, Institute for Advanced Bioscience, Université Grenoble Alpes, Grenoble, France., Tournadre D; CPDPN de Grenoble, Echographie obstétricale dépistage et diagnostic, CHU Grenoble Alpes, Grenoble, France., Doumit R; Service d'Imagerie Pédiatrique, CHU Grenoble Alpes, Grenoble, France., Nugues F; Service d'Imagerie Pédiatrique, CHU Grenoble Alpes, Grenoble, France., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Bustos F; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA.; Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Vermillion, South Dakota, USA., Jaillard S; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France.; EHESP, INSERM U1085 IRSET, Université de Rennes 1, Rennes, France., Launay E; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France., Pasquier L; Service de Génétique Clinique, CRMR anomalies du développement CLAD-Ouest, CHU Rennes, Rennes, France.; CNRS, INSERM UMR 6290, ERL U1305, F-35000, Université de Rennes, IGDR, Rennes, France.; FHU GenoMeds, ERN ITHACA, CHU Rennes, Rennes, France., Odent S; Service de Génétique Clinique, CRMR anomalies du développement CLAD-Ouest, CHU Rennes, Rennes, France.; CNRS, INSERM UMR 6290, ERL U1305, F-35000, Université de Rennes, IGDR, Rennes, France.; FHU GenoMeds, ERN ITHACA, CHU Rennes, Rennes, France.

Publikováno v: Journal of medical genetics [J Med Genet] 2024 Aug 29; Vol. 61 (9), pp. 824-832. Date of Electronic Publication: 2024 Aug 29.