المؤلفون: Rots, D., Jakub, T.E., Keung, C., Jackson, A., Banka, S., Pfundt, R.P., Vries, B.B.A. de, Jaarsveld, R.H. van, Hopman, S.M.J., Binsbergen, E. van, Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J.M., Andersen, C.B., Kibæk, M., Prijoles, E.J., Stevenson, R.E., Everman, D.B., Patterson, W.G., Meng, L., Gijavanekar, C., Dios, K. De, Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P.J., Lopez Garcia, M.S., Perrier, R., Sousa, S.B., Almeida, P.M., Simões, M.J., Isidor, B., Deb, W., Schmanski, A.A., Abdul-Rahman, O., Philippe, C., Bruel, A.L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J.J., Garavelli, L., Caraffi, S.G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L van, Sinnema, M., Stegmann, A.P.A., Stumpel, C.T., Tiller, G.E., Bosch, D.G.M., Potgieter, S.T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A.G., Freitag, C.M., Satterstrom, F.K., Rubeis, S. de, Buxbaum, J., Gelb, B.D., Branko, A., Kushima, I., Howe, J., Scherer, S.W., Arado, A., Baldo, C., Patat, O., Bénédicte, D., Lopergolo, D., Santorelli, F.M., Haack, T.B., Dufke, A., Bertrand, M., Falb, R.J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M.F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M.F., Liebelt, J., Dagli, A.I., Aten, E., Hurst, A.C.E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, J., Nicolas, G., Küpper, H., Petit, F., Ibrahim, V., Top, D., Cara, F. Di, Louie, R.J., Stolerman, E., Brunner, H.G., Vissers, L.E.L.M., Kramer, J.M., Kleefstra, T.

المساهمون: Clinical Genetics

المصدر: American Journal of Human Genetics, 110(6), 963-978. Cell Press
American Journal of Human Genetics, 110, 6, pp. 963-978
American Journal of Human Genetics, 110, 963-978

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], SDG 3 - Good Health and Well-being, Genetics, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8143c733f6eac531e487435c91e46cb2
https://doi.org/10.1016/j.ajhg.2023.04.008

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المؤلفون: Josephi-Taylor, S., King, C. E., Jennifer Rodger, Carole Bartlett, Lisa Tee, Sarah Dunlop, Lyn Beazley

المصدر: University of Western Australia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0dc5d1903e843221f308588bfc7090cb
https://research-repository.uwa.edu.au/en/publications/c321bf4e-d91a-4fe5-a9be-da01eccf653b

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المؤلفون: 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.

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Jul 09. Date of Electronic Publication: 2024 Jul 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE