Zobrazeno 1 - 10
of 96
pro vyhledávání: '"Lelm Vissers"'
Autor:
M Pettersson, Yannis Duffourd, Marco Tartaglia, Steven Laurie, Tobias B. Haack, Karolis Sablauskas, Andrea Ciolfi, Antonio Vitobello, Aurélien Trimouille, A Nordgren, E Lopez-Martin, A Hugon, K Vyshka, M Schwarz, M Janssen, S Li, Isabelle Nelson, S Prasanth, Christian Gilissen, Lelm Vissers, Rita Horvath, Simone Pizzi, G Casari, Leslie Matalonga, de, Boer, E, Caroline Rooryck, Siddharth Banka, Michele Pinelli, Mridul Johari, Christel Thauvin, Peter N. Robinson, M Posada, Wouter Steyaert, RJ Rodenburg, Marco Savarese, Jill Clayton-Smith, Ana Töpf, Annalaura Torella, A-S Denomme-Pichon, A Hammarsjo, Milan Macek, A Lindstrand, L Ryba, Elisa Benetti, Enzo Cohen, Birte Zurek, van, der, Velde, Jk, CW Ockeloen, D Henssen, Marketa Havlovicova, Daniel Danis, Francesca Clementina Radio, Bruno Dallapiccola, Mjh Coenen, Ida Paramonov, Tjitske Kleefstra, Laurence Faivre, Lisenka E.L.M. Vissers, I Cuesta, Alessandra Renieri, Alexander Hoischen, Alain Verloes, Adam Jackson, Nigro, Sophia Peters
Publikováno v:
European Journal of Human Genetics. 29:1470-1471
Autor:
Dominique Smeets, David A. Koolen, Lelm Vissers, Bda De Vries, Joris A. Veltman, Erik A. Sistermans, Willy M. Nillesen, Cma Van Ravenswaaij
Publikováno v:
Clinical Genetics. 65:429-432
Autor:
Rots D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia., Choufani S; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de Los Alimentos (INTA), Universidad de Chile, Santiago, Chile; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK., Jones EA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Stewart S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester LE1 7RH, UK., Dabir T; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, UK., Park SM; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Jewell R; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Brown N; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Melbourne, VIC, Australia., Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Jacquemont S; Department of Pediatrics, University of Montreal, Montreal, QC, Canada., Jizi K; Service de Génétique Médicale, CHU Ste-Justine, Montréal, QC, Canada., Ravenswaaij-Arts CMAV; University of Groningen, University Medical Centre Groningen, Department Genetics, Groningen, the Netherlands., Kroes HY; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; GROW-School for Oncology and Reproduction, Maastricht, the Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Nizon M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Vincent M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Cogné B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Besnard T; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Kambouris M; Division of Genetics, Department of Pathology and Laboratory Medicine Department, Sidra Medicine, Doha, Qatar., Anderson E; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., McDougall C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Donoghue S; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., O'Donnell-Luria A; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Valivullah Z; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Leary M; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Byers H; Department of Pediatrics, Stanford University, Stanford, CA, USA., Leslie N; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Mazzola S; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA., Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA., Vera M; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA., Shen JJ; Division of Genetics, Department of Pediatrics, UCSF Fresno, Fresno, CA, USA; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, CA, USA., Boles R; NeuraBilities Healthcare, Philadelphia, PA, USA., Jain V; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Longwood Drive, Whitchurch, Cardiff CF14 7YU, UK., Brischoux-Boucher E; Centre de Génétique Humaine, CHU de Besançon, Université de Franche-Comté, Besançon, France., Kinning E; Clinical Genetics, Birmingham Women's and Children's, Birmingham, UK., Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA., Giltay JC; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Harris J; Kennedy Krieger Institute, Baltimore, MD, USA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Keren B; Department of Genetics, APHP Sorbonne University, Paris, France., Guimier A; Service de Médecine Genomique des Maladies Rares, CRMR Anomalies Du Développement, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France., Marijon P; Laboratoire de Biologie Médicale Multisites Seqoia FMG2025, 75014 Paris, France., Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Motter CS; Genetic Center, Akron Children's Hospital, Akron, OH, USA., Mendelsohn BA; Department of Medical Genetics, Kaiser Permanente, Oakland, CA, USA., Coffino S; Department of Pediatric Neurology, Kaiser Permanente, Oakland, CA, USA., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Afenjar A; APHP Sorbonne Université, Centre de Référence Malformations et Maladies Congénitales Du Cervelet et Déficiences Intellectuelles de Causes Rares, Département de Génétique et Embryologie Médicale, Hôpital Trousseau, Paris, France., Visconti P; IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOSI Disturbi Dello Spettro Autistico, Bologna, Italy., Bacchelli E; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy., Maestrini E; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy., Delahaye-Duriez A; Medical Genomics and Clinical Genetics Unit, AP-HP, Hôpital Jean Verdier, Bondy, France., Gooch C; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA., Hendriks Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Adams H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands., Thauvin-Robinet C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia., Bertoli M; Northern Genetics Service, Newcastle Upon Tyne NHS Foundation Trust, Newcastle Upon Tyne, UK., Parker MJ; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK., Rutten JW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, Canada., Vernon HJ; Johns Hopkins University School of Medicine, Baltimore, MD, USA., Kaziyev J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Zhu J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Kremen J; Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Frazier Z; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Osika H; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Breault D; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Nair S; Department of Fetal Medicine, Lifeline Super Specialty Hospital, Kerala, India., Lewis SME; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada., Ceroni F; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK., Viggiano M; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy., Posar A; IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOSI Disturbi Dello Spettro Autistico, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Brittain H; Department of Clinical Genetics, Birmingham Women's & Children's NHS Trust, Birmingham, UK., Giovanna T; Medical Genetics Unit, Meyer Children's Hospital IRCCS Florence, Florence, Italy., Giulia G; Medical Genetics Unit,Meyer Children's Hospital IRCCS, Florence, Italy., Quteineh L; Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Ha-Vinh Leuchter R; Division of Development and Growth, Department of Pediatrics, University of Geneva, Geneva, Switzerland., Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Mellado C; Sección de Genética y Errores Congénitos Del Metabolismo, División de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile., Marey I; CHU Grenoble Alpes, Grenoble, France., Coudert A; CHU Grenoble Alpes, Grenoble, France., Aracena Alvarez MI; Unit of Genetics and Metabolic Diseases, Division of Pediatrics, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile., Kennis MGP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Bouman A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Roifman M; The Prenatal Diagnosis and Medical Genetics Program, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynaecology, University of Toronto, Toronto, Canada., Amorós Rodríguez MI; Deparment of Pediatrics, Hospital Punta Europa Algeciras, Cadiz, Spain., Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain., Vernimmen V; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; GROW-School for Oncology and Reproduction, Maastricht, the Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl., Weksberg R; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. Electronic address: rweksb@sickkids.ca., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Aug 08; Vol. 111 (8), pp. 1626-1642. Date of Electronic Publication: 2024 Jul 15.
Autor:
Rots D; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia., Bouman A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Yamada A; Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan., Levy M; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Ruiterkamp-Versteeg M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kummeling J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van Bon B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kasri NN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Venselaar H; Department of Medical BioSciences, Radboudumc, Nijmegen, the Netherlands., Alders M; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Elffers B; Cordaan, Amsterdam, the Netherlands; Department of Medical Care for Patients with Intellectual Disability, AMSTA, Amsterdam, the Netherlands., van Beeck Calkoen R; Cordaan, Amsterdam, the Netherlands., Hofman S; Evean Oostergouw, Zaandam, the Netherlands., Smith A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Valenzuela MI; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Frazier Z; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Maystadt I; Institut de Pathologie et de Génétique Centre de Génétique Humaineavenue G. Lemaître, 256041 Gosselies, Belgium., Piscopo C; Medical and Laboratory Unit, Antonio cardarelli Hospital, via A.Cardarelli 9, 80131 Naples, Italy., Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples, Naples, Italy; Laboratory of Regulatory and Functional Genomics, fondazione IRCCS casa sollievo della sofferenza, san giovanni rotondo, Foggia, Italy., Balasubramanian M; Division of Clinical Medicine, University of Sheffield, Sheffield, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Metcalfe K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Park SM; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Pasquier L; Reference Center for Rare Diseases, Hôpital Sud - CHU Rennes, Rennes, France., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Donnai D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Weisberg D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Strobl-Wildemann G; MVZ Humangenetik Ulm, Ulm, Germany., Wagemans A; Maasveld, Koraal, Maastricht, the Netherlands; Department of Family Medicine, Faculty of Health, Medicine and Life Science, Maastricht University, Maastricht, the Netherlands., Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Baralle D; Human Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, UK., Foulds N; Wessex Regional Genetics Services, UHS NHS Foundation Trust, Southampton, United Kingdom., Scurr I; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy., van Hagen JM; Amsterdam UMC Location Vrije Universiteit Amsterdam, Department of Human Genetics, Amsterdam, the Netherlands., Bijlsma EK; Department of Clinical Genetica, Leiden University Medical Center, Leiden, the Netherlands., Hakonen AH; Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Courage C; Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Genevieve D; Université Montpellier, Unité INSERM U1183, Montpellier, France; Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France., Pinson L; Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France., Forzano F; Clinical Genetics Department 7th Floor Borough WingGuy's Hospital, Guy's & St Thomas' NHS Foundation TrustGreat Maze Pond, London, UK., Deshpande C; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Kluskens ML; Prinsenstichting, Purmerend, the Netherlands., Welling L; Prinsenstichting, Purmerend, the Netherlands., Plomp AS; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands., Vanhoutte EK; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Kalsner L; Department of Pediatrics, Division of Neurology, Connecticut Children's, University of Connecticut, Farmington, CT, USA., Hol JA; Clinical Genetics Department, Erasmus Medical Centre, Rotterdam, the Netherlands., Putoux A; Hospices Civils de Lyon, Service de Génétique - Centre de Référence Anomalies du Développement, Bron, France; Centre de Recherche en Neurosciences de Lyon, Équipe GENDEV, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France., Lazier J; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK., Ames E; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI, USA., O'Shea J; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI, USA., Lederer D; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium., Fleischer J; Southern Illinois University School of Medicine, Department of Pediatrics, Springfield, IL, USA., O'Connor M; Southern Illinois University School of Medicine, Department of Pediatrics, Springfield, IL, USA., Pauly M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Kiraly-Borri C; Genetic Health Western Australia, Department of Health King Edward Memorial Hospital, Subiaco, WA 6008, Australia., Bouman A; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands., Barnett C; Paediatric and Reproductive Genetics Unit 8th Floor, Clarence Rieger Building Women's and Children's Hospital, 72 King William Road North, Adelaide, SA 5006, Australia., Nezarati M; Genetics, North York General Hospital, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada., Borch L; Department of Medical Genetics, North York General Hospital, University of Toronto, Toronto, ON, Canada., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands., Özcan K; Neurodevelopmental Treatment Association Çocuk Fizyoterapistleri Derneği Bobath Terapistleri Derneği, Ankara, Turkey., Miot S; Geriatrics department, Montpellier University Hospital, MUSE University, Montpellier, France; INSERM U1298, INM, Montpellier, France., Volker-Touw CML; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Via Pansini 5, Naples, Italy; TIGEM (Telethon Institute of Genetics and Medicine), Via Campi Flegrei 34, 80078 Pozzuoli (NA), Italy., Janssens K; Department of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Wilrijk, Belgium., Mor N; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel., Shomer I; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel., Dominissini D; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Ramat Aviv, Israel., Tedder ML; Greenwood Genetic Center, Greenwood, SC, USA., Muir AM; GeneDx Inc., Gaithersburg, MD 20877, USA., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., 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., Shinkai Y; Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan. Electronic address: yshinkai@riken.jp., Kleefstra T; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Aug 08; Vol. 111 (8), pp. 1605-1625. Date of Electronic Publication: 2024 Jul 15.
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:
Vos N; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands., Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada., van der Laan L; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands., Russel PKM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands., Rooney K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada., Maas SM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands., Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands., de Vries BBA; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands., Elting MW; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands., van Hagen JM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands., Verbeek NE; Department of Genetics, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands., Jongmans MCJ; Department of Genetics, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands., Lakeman P; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands., Rumping L; Center for Medical Genetics, Antwerp University Hospital, University of Antwerp, Drie Eikenstraat 655, 2650, Edegem, Belgium., Bosch DGM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Vitobello A; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, FHU-TRANSLAD, Unité Fonctionnelle Innovation en Diagnostic Génomique Des Maladies Rares, 21000, Dijon, France., Thauvin-Robinet C; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, FHU-TRANSLAD, Unité Fonctionnelle Innovation en Diagnostic Génomique Des Maladies Rares, 21000, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Déficiences Intellectuelles de Causes Rares», FHU-TRANSLAD, Dijon, France., Faivre L; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs», FHU-TRANSLAD, Dijon, France., Nambot S; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, FHU-TRANSLAD, Unité Fonctionnelle Innovation en Diagnostic Génomique Des Maladies Rares, 21000, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs», FHU-TRANSLAD, Dijon, France., Garde A; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Déficiences Intellectuelles de Causes Rares», FHU-TRANSLAD, Dijon, France., Willems M; INserm U1183, Department of Clinical Genetics, Montpellier University, 34090 CHU Montpellier, Montpellier, France., Genevieve D; INserm U1183, Department of Clinical Genetics, Montpellier University, 34090 CHU Montpellier, Montpellier, France., Nicolas G; Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, 76000, Rouen, France., Busa T; Department of Medical Genetics, Timone Hospital, Marseille, France., Toutain A; Genetics Department, University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Gérard M; APHP, Department of Genetics, Robert Debré Hospital, 75019, Paris, France., Bizaoui V; Clinical Genetics and Neurodevelopmental Disorders, Centre Hospitalier de L'Estran, 50170, Pontorson, France., Isidor B; Service de Génétique Médicale, CHU de Nantes, 44000, Nantes, France., Merla G; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131, Naples, Italy., Accadia M; Servizio di Genetica Medica, Ospedale Cardinale G. Panico, Tricase, LE, Italy., Schwartz CE; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, 49503, USA., Ounap K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Nezarati MM; Genetics Program, North York General Hospital, Toronto, ON, M2K 1E1, Canada., van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands., Tedder ML; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Rogers C; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Brusco A; Department of Medical Sciences, University of Torino, Via Santena 19, 10126, Turin, Italy.; Unit of Medical Genetics, Città Della Salute e Della Scienza Hospital, Turin, Italy., Ferrero GB; Department of Clinical and Biological Science, University of Torino, Turin, Italy., Spodenkiewicz M; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France., Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA., Mussa A; Department of Public Health and Pediatric Sciences, University of Torino, Turin, Italy.; Pediatric Clinical Genetics Unit, Regina Margherita Childrens' Hospital, Turin, Italy., Trajkova S; Department of Medical Sciences, University of Torino, Via Santena 19, 10126, Turin, Italy., McCann E; Liverpool Center for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK., Mroczkowski HJ; Department of Pediatrics, Le Bonheur Children's Hospital, Memphis, TN, USA.; Division of Genetics, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN, USA., Jansen S; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands., Donker-Kaat L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Duijkers FAM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands., Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Mannens MMAM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands., Alders M; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands., Henneman P; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada. bekim.sadikovic@lhsc.on.ca.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada. bekim.sadikovic@lhsc.on.ca., van Haelst MM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.; Amsterdam UMC, Department of Paediatrics, Emma Children's Hospital, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.; Amsterdam UMC, Emma Center for Personalized Medicine, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.
Publikováno v:
Human genetics [Hum Genet] 2024 Jun; Vol. 143 (6), pp. 761-773. Date of Electronic Publication: 2024 May 24.
Autor:
Rots D; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Human Genetics Radboudumc, Donders Center for Medical Neuroscience, Nijmegen, The Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia., Rooney K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Pfundt R; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Marcelis C; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Willemsen MH; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., van Hagen JM; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Zwijnenburg P; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Alders M; Department of Human Genetics, Amsterdam Reproduction & development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Reimand T; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Fjodorova O; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Berland S; Department of Mental Health, Møre og Romsdal Hospital Trust, Ålesund, Norway., Liahjell EB; Department of Mental Health, Møre og Romsdal Hospital Trust, Ålesund, Norway., Bojovic O; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Kriek M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Bonati MT; Department of Genetics, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy., Brunner HG; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Vissers LELM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Human Genetics Radboudumc, Donders Center for Medical Neuroscience, Nijmegen, The Netherlands., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Kleefstra T; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Human Genetics Radboudumc, Donders Center for Medical Neuroscience, Nijmegen, The Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Jun; Vol. 105 (6), pp. 655-660. Date of Electronic Publication: 2024 Feb 21.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Autor:
Bassani S; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland.; Present address: Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Chrast J; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland., Ambrosini G; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Voisin N; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland.; Present address: Sophia Genetics, St Sulpice, Switzerland., Schütz F; Biostatistics Platform, University of Lausanne, Lausanne, Switzerland., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126, Turin, Italy.; Medical Genetics Unit, Città Della Salute E Della Scienza University Hospital, 10126, Turin, Italy., Sirchia F; Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126, Turin, Italy.; Medical Genetics Unit, Città Della Salute E Della Scienza University Hospital, 10126, Turin, Italy.; Present address: Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Present address: Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Turban L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schubert S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schlump JU; Department of Pediatrics, Centre for Neuromedicine, Gemeinschaftskrankenhaus Herdecke Gerhard-Kienle-Weg, Herdecke, Germany., DeMille D; Genomics Analysis 396, ARUP Laboratories, Salt Lake City, UT, USA., Bayrak-Toydemir P; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Nelson GR; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Wong KN; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Duncan L; Department of Pediatrics, Medical Center North, Vanderbilt University Medical Center, Nashville, TN, USA.; Present address: Mayo Clinic, Rochester, MN, USA., Mosera M; Department of Pediatrics, Medical Center North, Vanderbilt University Medical Center, Nashville, TN, USA., Gilissen C; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Kersseboom R; Center for Genetic Developmental Disorders Southwest, Zuidwester, Middelharnis, The Netherlands., Yttervik H; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Hansen GÅM; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Smeland MF; Department of Pediatric Rehabilitation, University Hospital of North Norway, Tromsø, Norway., Butler KM; Greenwood Genetic Center, Greenwood, SC, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, SC, USA., Carvalho CMB; Pacific Northwest Research Institute (PNRI), Broadway, Seattle, WA, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Zhang C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Flores-Gallegos L; Hospital Ángeles Puebla, Puebla, Mexico., Morales-Toquero R; Hospital Ángeles Puebla, Puebla, Mexico., Petit F; CHU Lille, Clinique de Génétique, 59000, Lille, France., Yalcin B; Inserm UMR1231, University of Burgundy, 21000, Dijon, France., Tuttle A; GeneDx, Gaithersburg, MD, USA., Elloumi HZ; GeneDx, Gaithersburg, MD, USA., McCormick L; Department of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, TX, USA., Kukolich M; Department of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, TX, USA., Klaas O; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Horvath J; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Scala M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, 16132, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Operto F; Department of Medicine, Child and Adolescent Neuropsychiatry Unit, Surgery and Dentistry, University of Salerno, Salerno, Italy., Zara F; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, 16132, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Writzl K; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Haanpää MK; Department of Genomics, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Pohjola P; Department of Genomics, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Arikka H; Department of Pediatric Neurology, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Calandrini C; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Iseli C; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Guex N; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Reymond A; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland. alexandre.reymond@unil.ch.
Publikováno v:
Genome medicine [Genome Med] 2024 May 30; Vol. 16 (1), pp. 72. Date of Electronic Publication: 2024 May 30.
Autor:
Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. lonneke.haer-wigman@radboudumc.nl.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands. lonneke.haer-wigman@radboudumc.nl., den Ouden A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Derks R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Genderen MM; Bartiméus Diagnostic Center for complex visual disorders, Zeist, the Netherlands.; Department of Ophthalmology, University Medical Centre Utrecht, Utrecht, the Netherlands., Lugtenberg D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Verheij J; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Vijzelaar R; MRC Holland b v, Amsterdam, the Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, 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., Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v:
NPJ genomic medicine [NPJ Genom Med] 2024 May 04; Vol. 9 (1), pp. 29. Date of Electronic Publication: 2024 May 04.
Autor:
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M, Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 May 04. Date of Electronic Publication: 2024 May 04.