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De novo variants in ATP2B1 lead to neurodevelopmental delay.
Rahimi, Meer Jacob; Urban, Nicole; Wegler, Meret; Sticht, Heinrich; Schaefer, Michael; Popp, Bernt; Gaunitz, Frank; Morleo, Manuela; Nigro, Vincenzo; Maitz, Silvia; Mancini, Grazia M S; Ruivenkamp, Claudia; Suk, Eun-Kyung; Bartolomaeus, Tobias; Merkenschlager, Andreas; Koboldt, Daniel; Bartholomew, Dennis; Stegmann, Alexander P A; Sinnema, Margje; Duynisveld, Irma; Salvarinova, Ramona; Race, Simone; de Vries, Bert B A; Trimouille, Aurélien; Naudion, Sophie; Marom, Daphna; Hamiel, Uri; Henig, Noa; Demurger, Florence; Rahner, Nils; Bartels, Enrika; Hamm, J Austin; Putnam, Abbey M; Person, Richard; Abou Jamra, Rami; Oppermann, Henry.
  • Rahimi MJ; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany.
  • Urban N; Rudolf-Boehm-Institute of Pharmacology and Toxicology, University of Leipzig Hospitals and Clinics, Leipzig 04107, Germany.
  • Wegler M; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany.
  • Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany.
  • Schaefer M; Rudolf-Boehm-Institute of Pharmacology and Toxicology, University of Leipzig Hospitals and Clinics, Leipzig 04107, Germany.
  • Popp B; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany.
  • Gaunitz F; Department of Neurosurgery, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany.
  • Morleo M; Telethon Institute of Genetics and Medicine, Pozzuoli, 80078 Naples, Italy; Department of Precision Medicine, University of Campania "Luigi Vanvitelli," Naples 80138, Italy.
  • Nigro V; Telethon Institute of Genetics and Medicine, Pozzuoli, 80078 Naples, Italy; Department of Precision Medicine, University of Campania "Luigi Vanvitelli," Naples 80138, Italy.
  • Maitz S; Clinical Pediatric Genetic Unit, Pediatric Clinic, Fondazione MBBM, San Gerardo Hospital, Monza 20900, Italy.
  • Mancini GMS; ErasmusMC University Medical Center, Department of Clinical Genetics, Rotterdam 3015, the Netherlands.
  • Ruivenkamp C; Leiden University Medical Center, Clinical Genetics, Leiden 2333, the Netherlands.
  • Suk EK; Praxis für Humangenetik-Friedrichstrasse, Berlin 10117, Germany.
  • Bartolomaeus T; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tübingen 72076, Germany.
  • Merkenschlager A; Department of Neuropediatrics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany.
  • Koboldt D; Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • Bartholomew D; Division of Genetic and Genomic Medicine at Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht 6229, the Netherlands.
  • Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht 6229, the Netherlands.
  • Duynisveld I; Severinus Institute for Intellectual Disability, 5507 Veldhoven, the Netherlands.
  • Salvarinova R; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.
  • Race S; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.
  • de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525, the Netherlands.
  • Trimouille A; Service de Pathologie Centre Hospitalier Universitaire de Bordeaux, Bordeaux 33000, France; MRGM, Maladies Rares: Génétique et Métabolisme, INSERM U1211, Université de Bordeaux, Bordeaux 33076, France.
  • Naudion S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux 33076, France.
  • Marom D; The Genetics Institute, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel.
  • Hamiel U; The Genetics Institute, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel.
  • Henig N; The Genetics Institute, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel.
  • Demurger F; Service de Génértique, CHBA, Vannes 56000, France.
  • Rahner N; Institute for Clinical Genetics, Bonn 53111, Germany.
  • Bartels E; Institute for Clinical Genetics, Bonn 53111, Germany.
  • Hamm JA; Pediatric Genetics, East Tennessee Children's Hospital, Knoxville, TN 37916, USA.
  • Putnam AM; Pediatric Genetics, East Tennessee Children's Hospital, Knoxville, TN 37916, USA.
  • Person R; Clinical Genomics Program, GeneDx, Inc., Gaithersburg, MD 20877, USA.
  • Abou Jamra R; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany.
  • Oppermann H; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany. Electronic address: henry.oppermann@medizin.uni-leipzig.de.
Am J Hum Genet ; 109(5): 944-952, 2022 05 05.
Article en En | MEDLINE | ID: mdl-35358416
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual / Malformaciones del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual / Malformaciones del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article