Your browser doesn't support javascript.
loading
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Haijes, Hanneke A; Koster, Maria J E; Rehmann, Holger; Li, Dong; Hakonarson, Hakon; Cappuccio, Gerarda; Hancarova, Miroslava; Lehalle, Daphne; Reardon, Willie; Schaefer, G Bradley; Lehman, Anna; van de Laar, Ingrid M B H; Tesselaar, Coranne D; Turner, Clesson; Goldenberg, Alice; Patrier, Sophie; Thevenon, Julien; Pinelli, Michele; Brunetti-Pierri, Nicola; Prchalová, Darina; Havlovicová, Markéta; Vlckova, Markéta; Sedlácek, Zdenek; Lopez, Elena; Ragoussis, Vassilis; Pagnamenta, Alistair T; Kini, Usha; Vos, Harmjan R; van Es, Robert M; van Schaik, Richard F M A; van Essen, Ton A J; Kibaek, Maria; Taylor, Jenny C; Sullivan, Jennifer; Shashi, Vandana; Petrovski, Slave; Fagerberg, Christina; Martin, Donna M; van Gassen, Koen L I; Pfundt, Rolph; Falk, Marni J; McCormick, Elizabeth M; Timmers, H T Marc; van Hasselt, Peter M.
Affiliation
  • Haijes HA; Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands; Department of Biomedical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherland
  • Koster MJE; Regenerative Medicine Center and Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 CT Utrecht, the Netherlands; German Cancer Consortium (DKTK) standort Freiburg and German Cancer Research Center (DKFZ), 79106 Heidelberg, Germany.
  • Rehmann H; Expertise Center for Structural Biology, University Medical Center Utrecht, Utrecht University, 3584 CT Utrecht, the Netherlands; Molecular Cancer Research, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Oncode Institute, 3584 CT Utrecht, the Netherlands.
  • Li D; Center for Applied Genomics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Hakonarson H; Center for Applied Genomics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Human Genetics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Cappuccio G; Department of Translational Medicine, Federico II University, 80126 Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, 80126 Naples, Italy.
  • Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.
  • Lehalle D; Department of Genetics, Centre Hospitalier Universitaire de Dijon, 21000 Dijon, France.
  • Reardon W; Department of Clinical and Medical Genetics, Our Lady's Hospital for Sick Children, D12 N512 Dublin, Ireland.
  • Schaefer GB; Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, AR 72223, USA.
  • Lehman A; Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, BC V6H 3N1 Vancouver, Canada.
  • van de Laar IMBH; Department of Clinical Genetics, Erasmus Medical University Center Rotterdam, 3000 CA Rotterdam, the Netherlands.
  • Tesselaar CD; Department of Pediatrics, Amphia Hospital Breda, 4818 CK Breda, the Netherlands.
  • Turner C; Department of Clinical Genetics and Pediatrics, Walter Reed National Military Medical Center, Bethesda, Maryland, MD 20814, USA.
  • Goldenberg A; Department of Genetics, Rouen University Hospital, Centre de Référence Anomalies du Développement, Normandy Centre for Genomic and Personalized Medicine, 76000 Rouen, France.
  • Patrier S; Department of Pathology, Rouen University Hospital, Centre de Référence Anomalies du Développement, 76000 Rouen, France.
  • Thevenon J; Department of Genetics and Reproduction, Centre Hospitalier Universitaire de Grenoble, 38700 Grenoble, France.
  • Pinelli M; Department of Translational Medicine, Federico II University, 80126 Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, 80126 Naples, Italy.
  • Brunetti-Pierri N; Department of Translational Medicine, Federico II University, 80126 Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, 80126 Naples, Italy.
  • Prchalová D; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.
  • Havlovicová M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.
  • Vlckova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.
  • Sedlácek Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.
  • Lopez E; Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, BC V6H 3N1 Vancouver, Canada.
  • Ragoussis V; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, OX3 7BN Oxford, UK.
  • Pagnamenta AT; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, OX3 7BN Oxford, UK.
  • Kini U; Department of Genomic Medicine, Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, OX3 7LE Oxford, UK.
  • Vos HR; Molecular Cancer Research, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Oncode Institute, 3584 CT Utrecht, the Netherlands.
  • van Es RM; Molecular Cancer Research, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Oncode Institute, 3584 CT Utrecht, the Netherlands.
  • van Schaik RFMA; Molecular Cancer Research, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Oncode Institute, 3584 CT Utrecht, the Netherlands.
  • van Essen TAJ; Department of Clinical Genetics, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.
  • Kibaek M; H.C. Andersen Children Hospital, Odense University Hospital, 5000 Odense, Denmark.
  • Taylor JC; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, OX3 7BN Oxford, UK.
  • Sullivan J; Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, NC 27710, USA.
  • Shashi V; Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, NC 27710, USA.
  • Petrovski S; Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, NC 27710, USA; AstraZeneca Centre for Genomics Research, Precision Medicine and Genomics, IMED Biotech Unit, AstraZeneca, CB4 0WG Cambridge, United Kingdom; Department of Medicine, the University of Melbourne, VIC
  • Fagerberg C; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.
  • Martin DM; Departments of Pediatrics and Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, MI 48109, USA.
  • van Gassen KLI; Department of Biomedical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands.
  • Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center Nijmegen, 6525 HR Nijmegen, the Netherlands.
  • Falk MJ; Division of Human Genetics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Mitochondrial Medicine Frontier Program, Division of Human Genetics, the Children's Hospital of Philadelphia, PA 19104, Philadelphia, USA.
  • McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, the Children's Hospital of Philadelphia, PA 19104, Philadelphia, USA.
  • Timmers HTM; Regenerative Medicine Center and Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 CT Utrecht, the Netherlands; Department of Urology, University Medical Center Freiburg, University of Freiburg, 79110 Freiburg, Germany.
  • van Hasselt PM; Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands. Electronic address: p.vanhasselt@umcutrecht.nl.
Am J Hum Genet ; 105(2): 283-301, 2019 08 01.
Article in En | MEDLINE | ID: mdl-31353023
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Saccharomyces cerevisiae / DNA-Directed RNA Polymerases / Neurodevelopmental Disorders / Muscle Hypotonia / Mutation Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2019 Type: Article
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Saccharomyces cerevisiae / DNA-Directed RNA Polymerases / Neurodevelopmental Disorders / Muscle Hypotonia / Mutation Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2019 Type: Article