Zobrazeno 1 - 10
of 1 798
pro vyhledávání: '"Van Bon BW"'
Autor:
van der Laan L; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Lauffer P; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Rooney K; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Silva A; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Haghshenas S; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Trajkova S; Department of Medical Sciences, University of Torino, Torino, Italy., Huisman SA; Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Department of Pediatrics, Amsterdam, the Netherlands; Zodiak, Prinsenstichting, Purmerend, the Netherlands., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Baysal Ö; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Zweier C; Department of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany; Department of Human Genetics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland., Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Fischer J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Dresden, Germany., Szakszon K; Institute of Paediatrics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary., Faivre L; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD «Génétique des Anomalies du Développement», FHUTRANSLAD, Dijon, France; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs», FHU-TRANSLDAD, Dijon, France., Piton A; Genetic Diagnosis Laboratories, Strasbourg University Hospital, Strasbourg 67000, France., Mesman S; Swammerdam Institute for Life Sciences, FNWI, University of Amsterdam, Amsterdam, the Netherlands., Hochstenbach R; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Elting MW; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., van Hagen JM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Plomp AS; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Mannens MMAM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Alders M; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., van Haelst MM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Ferrero GB; Department of Public Health and Pediatrics, University of Torino, Turin, Italy., Brusco A; Department of Medical Sciences, University of Torino, Turin, Italy., Henneman P; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Sweetser DA; Division of Medical Genetics and Metabolism and Center for Genomic Medicine, Massachusetts General for Children, Boston, MA, USA., Sadikovic B; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Menke LA; Amsterdam Reproduction & Development, Amsterdam, the Netherlands; Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Department of Pediatrics, Amsterdam, the Netherlands; Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam, the Netherlands. Electronic address: l.a.menke@amsterdamumc.nl.
Publikováno v:
HGG advances [HGG Adv] 2024 Jul 18; Vol. 5 (3), pp. 100289. Date of Electronic Publication: 2024 Apr 02.
Autor:
Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Jansen S; 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., Pfundt R; 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., van Bon BW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Marcelis C; 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., Willemsen M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., 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., 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., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., 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 medicine [Nat Med] 2024 Jul; Vol. 30 (7), pp. 1994-2003. Date of Electronic Publication: 2024 May 14.
Autor:
Szakszon K; Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, Hungary szakszon.katalin@med.unideb.hu.; Rare Congenital Malformations and Rare intellectual Disability (ERN ITHACA), European Reference Networks, Debrecen, Hungary., Lourenco CM; Neurogenetics Unit - Inborn Errors of Metabolism Clinics, National Reference Center for Rare Diseases, Medicine School of Sao Jose do Rio Preto, Sao Jose do Rio Preto, Brazil., Callewaert BL; Center for Medical Genetics, University Hospital Ghent, Gent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Geneviève D; Montpellier University, Inserm Unit U1183, Reference Center for Rare Disease: Developmental Anomalies. Clinical Genetic Unit, CHU Montpellier, Montpellier, France.; Rare Congenital Malformations and Rare Intellectual Disability (ERN ITHACA), European Reference Networks, Montpellier, France., Rouxel F; Génétique Clinique, Départment de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier University, Centre de Référence Anomalies du Développement SOOR, Montpellier, France., Morin D; Rare Kidney Disease Center, Montpellier University Hospital, Montpellier, France., Denommé-Pichon AS; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France., Vitobello A; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France., Patterson WG; Greenwood Genetic Center Foundation, Greenwood, South Carolina, USA., Louie R; Greenwood Genetic Center Inc, Greenwood, South Carolina, USA., Pinto E Vairo F; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Klee E; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Kaiwar C; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Gavrilova RH; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Agre KE; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Jacquemont S; Sainte-Justine Research Center, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.; Department of Medical Genetics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada., Khadijé J; Department of Medical Genetics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada., Giltay J; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., van Gassen K; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Merő G; Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, Hungary., Gerkes E; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Brunner HG; Klinische Genetica, Maastricht University Medical Centre, Maastricht, The Netherlands., Caluseriu O; Medical Genetics Clinic, University of Alberta, Edmonton, Alberta, Canada., Grasshoff U; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany., Kehrer M; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany., Khelifa MM; Department of Human Genetics, Medical College Hannover, Hannover, Germany., Bergmann AK; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Rare Congenital Malformations and Rare intellectual Disability (ERN ITHACA), European Reference Networks, Barcelona, Spain., Martorell AC; Pediatric Endocrinology Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Endocrinology Group, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Vall d'Hebron Research Institute, Barcelona, Spain., Ramachandrappa S; Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, London, UK., Sawyer LB; Department of Medical Genetics, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Fasel P; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland., Braun D; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland., Isis A; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland., Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland., McNiven V; University Health Network and Mount Sinai Hospital, Fred A Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada., Ahmed SA; University Health Network and Mount Sinai Hospital, Fred A Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada., Brennenstuhl H; Insittute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schwaibolf EM; Insittute of Human Genetics, Heidelberg University, Heidelberg, Germany., Battisti G; Centre de Génétique Humaine, Institut de Pathologie et de Genetique asbl, Gosselies, Belgium., Parmentier B; Centre de Génétique Humaine, Institut de Pathologie et de Genetique asbl, Gosselies, Belgium., Stevens SJC; Klinische Genetica, Maastricht University Medical Center, Maastricht, The Netherlands.
Publikováno v:
Journal of medical genetics [J Med Genet] 2024 Jan 19; Vol. 61 (2), pp. 132-141. Date of Electronic Publication: 2024 Jan 19.
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.
Autor:
Jansen NA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Braden RO; Speech and Language, Murdoch Children's Research Institute, Victoria, Australia., Srivastava S; Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Otness EF; Deparment of Pediatrics, Texas Children's Pediatrics Sugar Land, Sugar Land, USA., Lesca G; Service de Génétique, Hospices Civils de Lyon, Lyon, France., Rossi M; Service de Génétique, Hospices Civils de Lyon, Lyon, France., Nizon M; CHU Nantes, Service de Génétique Médicale, Nantes, France., Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, USA., Quelin C; Service de Genetique Medicale, CLAD Ouest CHU Hôpital Sud, Rennes, France., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Wong MMK; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Whalen S; Clinical and Medical Genetic Department, Armand Trousseau Hospital, APHP, Paris, France., Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Morgan AT; Speech and Language, Murdoch Children's Research Institute, Victoria, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Melbourne, Australia., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Bregje.vanBon@radboudumc.nl.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Aug; Vol. 29 (8), pp. 1198-1205. Date of Electronic Publication: 2021 Apr 19.
Autor:
Gehin C; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Lone MA; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., Lee W; Department of Genetics and Development and.; Department Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA., Capolupo L; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Ho S; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Adeyemi AM; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada., Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands., Stegmann AP; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, Netherlands., López-Martín E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Bermejo-Sánchez E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Martínez-Delgado B; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Center of Functional Genomics, Berlin, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Gräfe D; Department of Pediatric Radiology, University Hospital Leipzig, Leipzig, Leipzig, Germany., Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland (CHI) at Temple Street, Dublin, Ireland.; UCD School of Medicine, Dublin, Ireland., Jones ER; Genuity Science, Cherrywood Business Park, Dublin, Ireland., Zamuner S; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland., Abriata LA; Laboratory for Biomolecular Modeling and Protein Purification and Structure Facility, EPFL and Swiss Institute of Bioinformatics, Lausanne Switzerland., Kunnathully V; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy., Moeller BE; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada., Vocat A; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Rommelaere S; Global Health Institute, School of Life Sciences and., Bocquete JP; Global Health Institute, School of Life Sciences and., Ruchti E; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Limoni G; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Van Campenhoudt M; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Bourgeat S; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Henklein P; Berlin Institute of Health, Institut für Biochemie, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany., Gilissen C; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands., van Bon BW; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands., Pfundt R; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands., Willemsen MH; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands., Schieving JH; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Nijmegen, Netherlands., Leonardi E; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy., Soli F; Medical Genetics Department, APSS Trento, Trento, Italy., Murgia A; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy., Guo H; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Zhang Q; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Xia K; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Fagerberg CR; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Beier CP; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Larsen MJ; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Fernández-Álvarez P; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Xiong S; Fetal Medicine Unit and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China., Śmigiel R; Department of Family and Pediatric Nursing, Medical University, Wroclaw, Poland., López-González V; Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain., Armengol L; Quantitative Genomic Medicine Laboratories, S.L., CSO & CEO, Esplugues del Llobregat, Barcelona, Catalunya, Spain., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Selicorni A; Department of Pediatrics, ASST Lariana Sant' Anna Hospital, San Fermo Della Battaglia, Como, Italy., Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Blyth M; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, United Kingdom., Cooper NS; W Midlands Clinical Genetics Service, Birmingham Women's Hospital, Edgbaston Birmingham, United Kingdom., Wilson V; Northern Regional Genetics Laboratory, Newcastle upon Tyne, United Kingdom., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Herenger Y; Genetica AG, Humangenetisches Labor und Beratungsstelle, Zürich, Switzerland., Garde A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, 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 Bourgogne, 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 Bourgogne, Dijon, France., Maddocks AB; Department of Radiology at Columbia University Irving Medical Center, New York, New York, USA., Bain JM; Department of Neurology, Columbia University Irving Medical Center, New York Presbyterian Hospital, Columbia University Medical Center, New York, New York, USA., Bhat MA; Institute of Pharmacology and Toxicology University of Zürich, Zürich, Switzerland., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Kannu P; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Marwaha A; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada., Champaigne NL; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Friez MJ; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Richardson EB; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Gupta Y; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Lim TY; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Sanna-Cherchi S; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Lemaitre B; Global Health Institute, School of Life Sciences and., Yamaji T; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, Tokyo, Japan., Hanada K; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, Tokyo, Japan., Burke JE; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada.; Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, British Columbia, Canada., Jakšić AM; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., McCabe BD; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., De Los Rios P; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland., Hornemann T; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., D'Angelo G; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy.; Global Health Institute, School of Life Sciences and., Gennarino VA; Department of Genetics and Development and.; Department of Pediatrics.; Department of Neurology.; Columbia Stem Cell Initiative, and.; Initiative for Columbia Ataxia and Tremor, Columbia University Irving Medical Center, New York, New York, USA.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2023 May 15; Vol. 133 (10). Date of Electronic Publication: 2023 May 15.
Autor:
Ferreira EA; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands; United for Metabolic Diseases, Amsterdam, The Netherlands., Veenvliet ARJ; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Engelke UFH; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Kluijtmans LAJ; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Huigen MCDG; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Hoegen B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Boer L; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries MC; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Leenders E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Cornelissen EAM; Department of Pediatric Nephrology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Schieving JH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Rubio-Gozalbo ME; United for Metabolic Diseases, Amsterdam, The Netherlands; Department of Pediatrics, Maastricht University Medical Centre, Maastricht University, Maastricht, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht University, Maastricht, The Netherlands; GROW-School for Oncology and Developmental Biology, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands., Körver-Keularts IMLW; United for Metabolic Diseases, Amsterdam, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht University, Maastricht, The Netherlands., Marten LM; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Centre Göttingen, University of Göttingen, Göttingen, Germany., Diegmann S; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Centre Göttingen, University of Göttingen, Göttingen, Germany., Mourmans J; Department of Pediatrics, Deventer Ziekenhuis, Deventer, The Netherlands., Rennings AJM; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands; United for Metabolic Diseases, Amsterdam, The Netherlands; Department of Human Genetics, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Rodenburg RJ; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Richard.Rodenburg@radboudumc.nl., Coene KLM; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Chemistry and Hematology, Elisabeth-TweeSteden Hospital, Tilburg, The Netherlands.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 125-134. Date of Electronic Publication: 2022 Nov 09.
Autor:
van Woerden GM; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Senden R; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., de Konink C; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Trezza RA; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Baban A; Pediatric Cardiology and Cardiac Arrhythmias Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Bassetti JA; Division of Medical Genetics, Weill Cornell Medicine, New York City, New York, USA., van Bever Y; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Bird LM; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, California, USA., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Guan Q; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Klee EW; Division of Computational Biology, Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Marcelis C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Rosado JM; Division of Computational Biology, Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Schimmenti LA; Department of Otorhinolaryngology Head and Neck Surgery, Ophthalmology, Clinical Genomics, and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA., Shikany AR; The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Terhal PA; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Nicole Weaver K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Wessels MW; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., van Wieringen H; Department of Pediatrics, St. Antonius Hospital, Nieuwegein, The Netherlands., Hurst AC; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Gooch CF; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren, Switzerland., Joset P; Department of Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren, Switzerland., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Department of Pediatrics, Sapienza University, Rome, Italy., Elgersma Y; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Demirdas S; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
Publikováno v:
Human mutation [Hum Mutat] 2022 Oct; Vol. 43 (10), pp. 1377-1395. Date of Electronic Publication: 2022 Jul 29.
Autor:
Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands; Department of Artificial Intelligence, Faculty of Social Sciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Hinne M; Department of Artificial Intelligence, Faculty of Social Sciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., van Reeuwijk J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., de Leeuw N; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., van Bon BW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., van Gerven MAJ; Department of Artificial Intelligence, Faculty of Social Sciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands. Electronic address: Bert.deVries@radboudumc.nl.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Mar; Vol. 24 (3), pp. 645-653. Date of Electronic Publication: 2021 Nov 30.
Autor:
Stolz JR, Foote KM, Veenstra-Knol HE, Pfundt R, Ten Broeke SW, de Leeuw N, Roht L, Pajusalu S, Part R, Rebane I, Õunap K, Stark Z, Kirk EP, Lawson JA, Lunke S, Christodoulou J, Louie RJ, Rogers RC, Davis JM, Innes AM, Wei XC, Keren B, Mignot C, Lebel RR, Sperber SM, Sakonju A, Dosa N, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Ruivenkamp CAL, van Bon BW, Kennedy J, Low KJ, Ellard S, Pang L, Junewick JJ, Mark PR, Carvill GL, Swanson GT
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Nov 04; Vol. 108 (11), pp. 2206.