De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Journal

Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462

Informations de publication

Date de publication:
11 Jul 2024
Historique:
received: 07 04 2024
accepted: 02 07 2024
medline: 12 7 2024
pubmed: 12 7 2024
entrez: 11 7 2024
Statut: aheadofprint

Résumé

Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes

Identifiants

DOI: 10.1038/s41586-024-07773-7 PMID: 38991538
pubmed: 38991538
doi: 10.1038/s41586-024-07773-7
pii: 10.1038/s41586-024-07773-7
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2024. The Author(s), under exclusive licence to Springer Nature Limited.

Auteurs

Yuyang Chen (Y)

Big Data Institute, University of Oxford, Oxford, UK.
Centre for Human Genetics, University of Oxford, Oxford, UK.
ORCID: 0000-0001-5593-6920

Ruebena Dawes (R)

Big Data Institute, University of Oxford, Oxford, UK.
Centre for Human Genetics, University of Oxford, Oxford, UK.
ORCID: 0000-0003-2135-0117

Hyung Chul Kim (HC)

Big Data Institute, University of Oxford, Oxford, UK.
Centre for Human Genetics, University of Oxford, Oxford, UK.
ORCID: 0000-0001-5877-5456

Alicia Ljungdahl (A)

Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.
Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.

Sarah L Stenton (SL)

Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0003-4071-449X

Susan Walker (S)

Genomics England, London, UK.
ORCID: 0000-0002-5016-6426

Jenny Lord (J)

Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
ORCID: 0000-0002-0539-9343

Gabrielle Lemire (G)

Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Alexandra C Martin-Geary (AC)

Big Data Institute, University of Oxford, Oxford, UK.
Centre for Human Genetics, University of Oxford, Oxford, UK.
ORCID: 0000-0002-5818-1962

Vijay S Ganesh (VS)

Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

Jialan Ma (J)

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

Jamie M Ellingford (JM)

Genomics England, London, UK.
Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.

Erwan Delage (E)

Human Genetics, Wellcome Sanger Institute, Hinxton, UK.
ORCID: 0000-0002-7653-5111

Elston N D'Souza (EN)

Big Data Institute, University of Oxford, Oxford, UK.
Centre for Human Genetics, University of Oxford, Oxford, UK.
ORCID: 0000-0002-5394-7260

Shan Dong (S)

Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.
Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.

David R Adams (DR)

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

Kirsten Allan (K)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Madhura Bakshi (M)

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

Erin E Baldwin (EE)

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

Seth I Berger (SI)

Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.
Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
ORCID: 0000-0001-7517-4302

Jonathan A Bernstein (JA)

Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.
Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.
ORCID: 0000-0001-5369-346X

Ishita Bhatnagar (I)

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

Ed Blair (E)

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

Natasha J Brown (NJ)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.

Lindsay C Burrage (LC)

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

Kimberly Chapman (K)

Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.

David J Coman (DJ)

Department of Metabolic Medicine, Queensland Children's Hospital, Brisbane, QLD, Australia.
Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.
School of Medicine, Griffith university, Gold Coast, QLD, Australia.
ORCID: 0000-0001-6303-6471

Alison G Compton (AG)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
Murdoch Children's Research Institute, Melbourne, VIC, Australia.
ORCID: 0000-0002-2725-7055

Chloe A Cunningham (CA)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.

Precilla D'Souza (P)

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

Petr Danecek (P)

Human Genetics, Wellcome Sanger Institute, Hinxton, UK.

Emmanuèle C Délot (EC)

Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.

Kerith-Rae Dias (KR)

Neuroscience Research Australia, Sydney, NSW, Australia.
Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.
ORCID: 0000-0002-4707-8089

Ellen R Elias (ER)

Department of Pediatrics, Children's Hospital Colorado, Aurora, CO, USA.
University of Colorado School of Medicine, University of Colorado, Aurora, CO, USA.

Frances Elmslie (F)

South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK.
ORCID: 0000-0002-2508-9107

Care-Anne Evans (CA)

Neuroscience Research Australia, Sydney, NSW, Australia.
New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.

Lisa Ewans (L)

Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.
Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.
Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.

Kimberly Ezell (K)

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

Jamie L Fraser (JL)

Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.
Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
ORCID: 0000-0002-7794-8903

Lyndon Gallacher (L)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
ORCID: 0000-0003-2245-9034

Casie A Genetti (CA)

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Anne Goriely (A)

MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
NIHR Biomedical Research Centre, Oxford, UK.
ORCID: 0000-0001-9229-7216

Christina L Grant (CL)

Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
ORCID: 0000-0002-0627-4614

Tobias Haack (T)

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Center for Rare Diseases Tübingen, University of Tübingen, Tübingen, Germany.
ORCID: 0000-0001-6033-4836

Jenny E Higgs (JE)

Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Crown Street, Liverpool, UK.

Anjali G Hinch (AG)

Centre for Human Genetics, University of Oxford, Oxford, UK.
ORCID: 0000-0002-0836-3418

Matthew E Hurles (ME)

Human Genetics, Wellcome Sanger Institute, Hinxton, UK.
ORCID: 0000-0002-2333-7015

Alma Kuechler (A)

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

Katherine L Lachlan (KL)

Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust, Southampton, UK.
Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK.

Seema R Lalani (SR)

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

François Lecoquierre (F)

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

Elsa Leitão (E)

Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
ORCID: 0000-0001-5051-9714

Anna Le Fevre (AL)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
ORCID: 0000-0001-5843-9516

Richard J Leventer (RJ)

Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Royal Children's Hospital, Melbourne, VIC, Australia.

Jan E Liebelt (JE)

Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia.
Repromed, Dulwich, SA, Australia.

Sarah Lindsay (S)

Human Genetics, Wellcome Sanger Institute, Hinxton, UK.
ORCID: 0000-0002-0965-3070

Paul J Lockhart (PJ)

Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
ORCID: 0000-0003-2531-8413

Alan S Ma (AS)

Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, NSW, Australia.
Specialty of Genomic Medicine, University of Sydney, Sydney, NSW, Australia.

Ellen F Macnamara (EF)

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

Sahar Mansour (S)

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

Taylor M Maurer (TM)

GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.
Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.
Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
ORCID: 0009-0002-2330-7980

Hector R Mendez (HR)

GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.
Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.
Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.
ORCID: 0000-0001-6465-452X

Kay Metcalfe (K)

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

Stephen B Montgomery (SB)

GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.
Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.
Department of Pathology, Department of Genetics, Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA.
ORCID: 0000-0002-5200-3903

Mariya Moosajee (M)

UCL Institute of Ophthalmology, London, UK.
The Francis Crick Institute, London, UK.
Moorfields Eye Hospital NHS Foundation Trust, London, UK.

Marie-Cécile Nassogne (MC)

Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.
Institut des Maladies Rares, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.

Serena Neumann (S)

Division of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
ORCID: 0009-0001-0957-7338

Michael O'Donoghue (M)

Nottingham University Hospitals NHS Trust, Nottingham, UK.

Melanie O'Leary (M)

Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
ORCID: 0000-0002-8718-4759

Elizabeth E Palmer (EE)

Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.
Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.

Nikhil Pattani (N)

South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK.
ORCID: 0000-0002-7233-3635

John Phillips (J)

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

Georgia Pitsava (G)

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

Ryan Pysar (R)

Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.
Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.
Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia.

Heidi L Rehm (HL)

Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

Chloe M Reuter (CM)

GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.
Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.
Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.

Nicole Revencu (N)

Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
ORCID: 0000-0002-7120-4903

Angelika Riess (A)

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

Rocio Rius (R)

Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, NSW, Australia.
Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
ORCID: 0000-0002-9871-3126

Lance Rodan (L)

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Tony Roscioli (T)

Neuroscience Research Australia, Sydney, NSW, Australia.
Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.
New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.

Jill A Rosenfeld (JA)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
ORCID: 0000-0001-5664-7987

Rani Sachdev (R)

Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.
Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.

Charles J Shaw-Smith (CJ)

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

Cas Simons (C)

Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, NSW, Australia.
Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
ORCID: 0000-0003-3147-8042

Sanjay M Sisodiya (SM)

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
UK and Chalfont Centre for Epilepsy, Chalfont St Peter, Buckinghamshire, UK.

Penny Snell (P)

Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
ORCID: 0000-0002-9821-5282

Laura St Clair (L)

Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, NSW, Australia.

Zornitza Stark (Z)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.

Helen S Stewart (HS)

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

Tiong Yang Tan (TY)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.

Natalie B Tan (NB)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Suzanna E L Temple (SEL)

Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia.
School of Women's and Children's Health, University of New South Wales, Sydney, NSW, Australia.

David R Thorburn (DR)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
Murdoch Children's Research Institute, Melbourne, VIC, Australia.
ORCID: 0000-0002-7725-9470

Cynthia J Tifft (CJ)

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

Eloise Uebergang (E)

Murdoch Children's Research Institute, Melbourne, VIC, Australia.
ORCID: 0000-0003-0305-7822

Grace E VanNoy (GE)

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

Pradeep Vasudevan (P)

Medical Genetics, University of Leicester, Leicester Royal Infirmary, Leicester, UK.
ORCID: 0009-0002-6095-2030

Eric Vilain (E)

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

David H Viskochil (DH)

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

Laura Wedd (L)

Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, NSW, Australia.
Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Matthew T Wheeler (MT)

GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.
Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.
Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.
ORCID: 0000-0001-8721-3022

Susan M White (SM)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.

Monica Wojcik (M)

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Lynne A Wolfe (LA)

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

Zoe Wolfenson (Z)

Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.
ORCID: 0009-0008-2207-5755

Caroline F Wright (CF)

Department of Clinical and Biomedical Sciences, University of Exeter, Exeter, UK.
ORCID: 0000-0003-2958-5076

Changrui Xiao (C)

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

David Zocche (D)

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

John L Rubenstein (JL)

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

Eirene Markenscoff-Papadimitriou (E)

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

Sebastian M Fica (SM)

Department of Biochemistry, University of Oxford, Oxford, UK.
ORCID: 0000-0001-9186-0361

Diana Baralle (D)

School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
National Institute for Health Research (NIHR) Southampton Biomedical Research Centre, University Hospital Southampton National Health Service (NHS) Foundation Trust, Southampton, UK.

Christel Depienne (C)

Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
ORCID: 0000-0002-7212-9554

Daniel G MacArthur (DG)

Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, NSW, Australia.
Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Joanna M M Howson (JMM)

Human Genetics Centre of Excellence, Novo Nordisk Research Centre, Oxford, UK.
ORCID: 0000-0001-7618-0050

Stephan J Sanders (SJ)

Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.
Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
ORCID: 0000-0001-9112-5148

Anne O'Donnell-Luria (A)

Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0001-6418-9592

Nicola Whiffin (N)

Big Data Institute, University of Oxford, Oxford, UK. nwhiffin@well.ox.ac.uk.
Centre for Human Genetics, University of Oxford, Oxford, UK. nwhiffin@well.ox.ac.uk.
Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. nwhiffin@well.ox.ac.uk.
ORCID: 0000-0003-1554-6594

Classifications MeSH