De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024)

  • Big Data Institute, University of Oxford, Oxford, UK

    Yuyang Chen,Ruebena Dawes,Hyung Chul Kim,Alexandra C. Martin-Geary,Elston N. D’Souza&Nicola Whiffin

  • Centre for Human Genetics, University of Oxford, Oxford, UK

    Yuyang Chen,Ruebena Dawes,Hyung Chul Kim,Alexandra C. Martin-Geary,Elston N. D’Souza,Anjali G. Hinch&Nicola Whiffin

  • Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK

    Alicia Ljungdahl,Shan Dong&Stephan J. Sanders

  • Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA

    Alicia Ljungdahl,Shan Dong,John L. Rubenstein&Stephan J. Sanders

  • Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA

    Sarah L. Stenton,Gabrielle Lemire,Vijay S. Ganesh,Jialan Ma,Melanie O’Leary,Heidi L. Rehm,Grace E. VanNoy,Anne O’Donnell-Luria&Nicola Whiffin

  • Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    Sarah L. Stenton,Gabrielle Lemire,Vijay S. Ganesh,Casie A. Genetti,Lance Rodan,Monica Wojcik&Anne O’Donnell-Luria

  • Genomics England, London, UK

    Susan Walker&Jamie M. Ellingford

  • Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK

    Jenny Lord

  • Department of Neurology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA

    Vijay S. Ganesh

  • Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK

    Jamie M. Ellingford

  • Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK

    Jamie M. Ellingford

  • Human Genetics, Wellcome Sanger Institute, Hinxton, UK

    Erwan Delage,Petr Danecek,Matthew E. Hurles&Sarah Lindsay

  • Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA

    David R. Adams,Precilla D’Souza,Ellen F. Macnamara,Cynthia J. Tifft,Lynne A. Wolfe&Zoe Wolfenson

  • Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, VIC, Australia

    Kirsten Allan,Natasha J. Brown,Alison G. Compton,Chloe A. Cunningham,Lyndon Gallacher,Anna Le Fevre,Zornitza Stark,Tiong Yang Tan,Natalie B. Tan,David R. Thorburn&Susan M. White

  • Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia

    Madhura Bakshi&Suzanna E. L. Temple

  • Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA

    Erin E. Baldwin&David H. Viskochil

  • Center for Genetic Medicine Research, Children’s National Research Institute, Washington, DC, USA

    Seth I. Berger,Emmanuèle C. Délot&Jamie L. Fraser

  • Division of Genetics and Metabolism, Children’s National Hospital, Washington, DC, USA

    Seth I. Berger,Kimberly Chapman,Jamie L. Fraser&Christina L. Grant

  • Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA

    Jonathan A. Bernstein

  • GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA

    Jonathan A. Bernstein,Taylor M. Maurer,Hector R. Mendez,Stephen B. Montgomery,Chloe M. Reuter&Matthew T. Wheeler

  • Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA

    Jonathan A. Bernstein,Taylor M. Maurer,Hector R. Mendez,Stephen B. Montgomery,Chloe M. Reuter&Matthew T. Wheeler

  • Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

    Ish*ta Bhatnagar,Ed Blair&Helen S. Stewart

  • Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia

    Natasha J. Brown,Alison G. Compton,Chloe A. Cunningham,Lyndon Gallacher,Richard J. Leventer,Paul J. Lockhart,Rocio Rius,Zornitza Stark,Tiong Yang Tan,David R. Thorburn&Susan M. White

  • Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

    Lindsay C. Burrage,Seema R. Lalani&Jill A. Rosenfeld

  • Department of Metabolic Medicine, Queensland Children’s Hospital, Brisbane, QLD, Australia

    David J. Coman

  • Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia

    David J. Coman

  • School of Medicine, Griffith university, Gold Coast, QLD, Australia

    David J. Coman

  • Murdoch Children’s Research Institute, Melbourne, VIC, Australia

    Alison G. Compton,Richard J. Leventer,David R. Thorburn&Eloise Uebergang

  • Neuroscience Research Australia, Sydney, NSW, Australia

    Kerith-Rae Dias,Care-Anne Evans&Tony Roscioli

  • Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia

    Kerith-Rae Dias&Tony Roscioli

  • Department of Pediatrics, Children’s Hospital Colorado, Aurora, CO, USA

    Ellen R. Elias

  • University of Colorado School of Medicine, University of Colorado, Aurora, CO, USA

    Ellen R. Elias

  • South West Thames Centre for Genomics, St George’s University Hospitals NHS Foundation Trust, London, UK

    Frances Elmslie,Sahar Mansour&Nikhil Pattani

  • New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia

    Care-Anne Evans&Tony Roscioli

  • Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia

    Lisa Ewans,Elizabeth E. Palmer,Ryan Pysar&Rani Sachdev

  • Centre for Clinical Genetics, Sydney Children’s Hospitals Network, Randwick, NSW, Australia

    Lisa Ewans,Elizabeth E. Palmer,Ryan Pysar&Rani Sachdev

  • Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia

    Lisa Ewans

  • Division of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA

    Kimberly Ezell,Serena Neumann&John Phillips

  • Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    Casie A. Genetti&Monica Wojcik

  • MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK

    Anne Goriely

  • NIHR Biomedical Research Centre, Oxford, UK

    Anne Goriely

  • Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

    Tobias Haack&Angelika Riess

  • Center for Rare Diseases Tübingen, University of Tübingen, Tübingen, Germany

    Tobias Haack

  • Liverpool Centre for Genomic Medicine, Liverpool Women’s Hospital, Crown Street, Liverpool, UK

    Jenny E. Higgs

  • Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany

    Alma Kuechler,Elsa Leitão&Christel Depienne

  • Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust, Southampton, UK

    Katherine L. Lachlan

  • Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK

    Katherine L. Lachlan

  • Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, Rouen, France

    François Lecoquierre

  • Royal Children’s Hospital, Melbourne, VIC, Australia

    Richard J. Leventer

  • Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women’s and Children’s Hospital, North Adelaide, SA, Australia

    Jan E. Liebelt

  • Repromed, Dulwich, SA, Australia

    Jan E. Liebelt

  • Bruce Lefroy Centre, Murdoch Children’s Research Institute, Melbourne, VIC, Australia

    Paul J. Lockhart&Penny Snell

  • Department of Clinical Genetics, Sydney Children’s Hospitals Network Westmead, Sydney, NSW, Australia

    Alan S. Ma&Laura St Clair

  • Specialty of Genomic Medicine, University of Sydney, Sydney, NSW, Australia

    Alan S. Ma

  • Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA

    Taylor M. Maurer

  • Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA

    Hector R. Mendez,Chloe M. Reuter&Matthew T. Wheeler

  • Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK

    Kay Metcalfe

  • Department of Pathology, Department of Genetics, Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA

    Stephen B. Montgomery

  • UCL Institute of Ophthalmology, London, UK

    Mariya Moosajee

  • The Francis Crick Institute, London, UK

    Mariya Moosajee

  • Moorfields Eye Hospital NHS Foundation Trust, London, UK

    Mariya Moosajee

  • Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium

    Marie-Cécile Nassogne

  • Institut des Maladies Rares, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium

    Marie-Cécile Nassogne

  • Nottingham University Hospitals NHS Trust, Nottingham, UK

    Michael O’Donoghue

  • Institute for Clinical and Translational Research, University of California, Irvine, CA, USA

    Georgia Pitsava

  • Department of Clinical Genetics, The Children’s Hospital at Westmead, Westmead, NSW, Australia

    Ryan Pysar

  • Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

    Heidi L. Rehm&Anne O’Donnell-Luria

  • Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium

    Nicole Revencu

  • Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, NSW, Australia

    Rocio Rius,Cas Simons,Laura Wedd&Daniel G. MacArthur

  • Centre for Population Genomics, Murdoch Children’s Research Institute, Melbourne, VIC, Australia

    Rocio Rius,Cas Simons,Laura Wedd&Daniel G. MacArthur

  • Department of Clinical Genetics, Peninsula Regional Clinical Genetics Service, Royal Devon University Hospital, Exeter, UK

    Charles J. Shaw-Smith

  • Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK

    Sanjay M. Sisodiya

  • UK and Chalfont Centre for Epilepsy, Chalfont St Peter, Buckinghamshire, UK

    Sanjay M. Sisodiya

  • School of Women’s and Children’s Health, University of New South Wales, Sydney, NSW, Australia

    Suzanna E. L. Temple

  • Medical Genetics, University of Leicester, Leicester Royal Infirmary, Leicester, UK

    Pradeep Vasudevan

  • Institute for Clinical and Translational Science, University of California, Irvine, CA, USA

    Eric Vilain

  • Division of Newborn Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    Monica Wojcik

  • Department of Clinical and Biomedical Sciences, University of Exeter, Exeter, UK

    Caroline F. Wright

  • Department of Neurology, University of California, Irvine, CA, USA

    Changrui Xiao

  • North West Thames Regional Genetics Service, Northwick Park & St Mark’s Hospitals, London, UK

    David Zocche

  • Department of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA

    Eirene Markenscoff-Papadimitriou

  • Department of Biochemistry, University of Oxford, Oxford, UK

    Sebastian M. Fica

  • School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK

    Diana Baralle

  • National Institute for Health Research (NIHR) Southampton Biomedical Research Centre, University Hospital Southampton National Health Service (NHS) Foundation Trust, Southampton, UK

    Diana Baralle

  • Human Genetics Centre of Excellence, Novo Nordisk Research Centre, Oxford, UK

    Joanna M. M. Howson

  • De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024)

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