ArticleNature2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Abstract read
In one paragraph
Article in Nature, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 papers.
0numbers the graph read from it
0cells of the map it votes in
90citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
90 citing papers in PubMed.
- A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care.Genome medicine · 2026Trial
- Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.Genome medicine · 2025Trial
- Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012-2022).European journal of human genetics : EJHG · 2026Article
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- Caring for Rare Genetic Disease: A Vision for the Future.Journal of genetic counseling · 2026Article
- Splice-site variants in neurology: from molecular mechanisms to clinical interpretation - a focused review.Neurogenetics · 2026Review
- Genetic Diagnosis in Epilepsy: Implications for Clinical Management.Current neurology and neuroscience reports · 2026Review
- Article
- CRISPR-Cas9 and precision editing technologies linking functional genomics to clinical translation in genetic diseases.Clinical and translational medicine · 2026Review
- Article
- Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.iScience · 2026Article
- Multiple quality control checkpoints safeguard small nuclear RNA biogenesis and prevent assembly of aberrant spliceosomes.Genes & development · 2026Article
- Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.medRxiv : the preprint server for health sciences · 2026Article
- Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder.European journal of human genetics : EJHG · 2026Article
- Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service.Journal of medical genetics · 2026Article
- Past studies suggest potential therapies for newly discovered retinitis pigmentosa mutations in U6 and U4 snRNAs.RNA (New York, N.Y.) · 2026Article
- Advances in the Comprehensive Tree Shrew Brain Atlas.Biomolecules · 2026Review
- Polygenic scores as modifiers in Mendelian diseases.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Beyond Coding Variants: RNA-Level Mechanisms in Human Disease and Precision Therapeutics.Genes · 2026Review
- Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.medRxiv : the preprint server for health sciences · 2026Article
30 more citing papers are in PubMed but not listed here.
Corrections and comments
- Update of
Authors and funding
119 authors.
Yuyang ChenBig Data Institute, University of Oxford, Oxford, UK.ORCID 0000-0001-5593-6920
Ruebena Dawes *Big Data Institute, University of Oxford, Oxford, UK.ORCID 0000-0003-2135-0117
Hyung Chul Kim *Big Data Institute, University of Oxford, Oxford, UK.ORCID 0000-0001-5877-5456
Alicia Ljungdahl *Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.
Sarah L Stenton *Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-4071-449X
Susan Walker *Genomics England, London, UK.ORCID 0000-0002-5016-6426
Jenny LordSheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.ORCID 0000-0002-0539-9343
Gabrielle LemireBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Alexandra C Martin-GearyBig Data Institute, University of Oxford, Oxford, UK.ORCID 0000-0002-5818-1962
Vijay S GaneshBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jialan MaBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jamie M EllingfordGenomics England, London, UK.
Erwan DelageHuman Genetics, Wellcome Sanger Institute, Hinxton, UK.ORCID 0000-0002-7653-5111
Elston N D'SouzaBig Data Institute, University of Oxford, Oxford, UK.ORCID 0000-0002-5394-7260
Shan DongInstitute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.
David R AdamsUndiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.
Kirsten AllanVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Madhura BakshiDepartment of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia.
Erin E BaldwinDivision of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Seth I BergerCenter for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.ORCID 0000-0001-7517-4302
Jonathan A BernsteinDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0001-5369-346X
Ishita BhatnagarOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Ed BlairOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Natasha J BrownVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Lindsay C BurrageDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Kimberly ChapmanDivision of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
David J ComanDepartment of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Queensland, Australia.ORCID 0000-0001-6303-6471
Alison G ComptonVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.ORCID 0000-0002-2725-7055
Chloe A CunninghamVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Precilla D'SouzaUndiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.
Petr DanecekHuman Genetics, Wellcome Sanger Institute, Hinxton, UK.
Emmanuèle C DélotCenter for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.
Kerith-Rae DiasNeuroscience Research Australia, Sydney, New South Wales, Australia.ORCID 0000-0002-4707-8089
Ellen R EliasDepartment of Pediatrics, Children's Hospital Colorado, Aurora, CO, USA.
Frances ElmslieSouth West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK.ORCID 0000-0002-2508-9107
Care-Anne EvansNeuroscience Research Australia, Sydney, New South Wales, Australia.
Lisa EwansDiscipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.
Kimberly EzellDivision of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Jamie L FraserCenter for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.ORCID 0000-0002-7794-8903
Lyndon GallacherVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.ORCID 0000-0003-2245-9034
Casie A GenettiDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Anne GorielyMRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.ORCID 0000-0001-9229-7216
Christina L GrantDivision of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.ORCID 0000-0002-0627-4614
Tobias HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID 0000-0001-6033-4836
Jenny E HiggsLiverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.
Anjali G HinchCentre for Human Genetics, University of Oxford, Oxford, UK.ORCID 0000-0002-0836-3418
Matthew E HurlesHuman Genetics, Wellcome Sanger Institute, Hinxton, UK.ORCID 0000-0002-2333-7015
Alma KuechlerInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Katherine L LachlanWessex Clinical Genetics Service, University Hospital Southampton NHS Trust, Southampton, UK.
Seema R LalaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
François LecoquierreUniversity of Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France.
Elsa LeitãoInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.ORCID 0000-0001-5051-9714
Anna Le FevreVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.ORCID 0000-0001-5843-9516
Richard J LeventerDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Jan E LiebeltPaediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
Sarah LindsayHuman Genetics, Wellcome Sanger Institute, Hinxton, UK.ORCID 0000-0002-0965-3070
Paul J LockhartDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.ORCID 0000-0003-2531-8413
Alan S MaDepartment of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, New South Wales, Australia.
Ellen F MacnamaraUndiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.
Sahar MansourSouth West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK.
Taylor M MaurerGREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0009-0002-2330-7980
Hector R MendezGREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0001-6465-452X
Kay MetcalfeManchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Stephen B MontgomeryGREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0002-5200-3903
Mariya MoosajeeUCL Institute of Ophthalmology, London, UK.
Marie-Cécile NassogneService de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.
Serena NeumannDivision of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0009-0001-0957-7338
Michael O'DonoghueNottingham University Hospitals NHS Trust, Nottingham, UK.
Melanie O'LearyBroad 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 PalmerDiscipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.
Nikhil PattaniSouth West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK.ORCID 0000-0002-7233-3635
John PhillipsDivision of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Georgia PitsavaInstitute for Clinical and Translational Research, University of California Irvine, Irvine, CA, USA.
Ryan PysarDiscipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.
Heidi L RehmBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Chloe M ReuterGREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.
Nicole RevencuCenter for Human Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0002-7120-4903
Angelika RiessInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Rocio RiusDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.ORCID 0000-0002-9871-3126
Lance RodanDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Tony RoscioliNeuroscience Research Australia, Sydney, New South Wales, Australia.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-5664-7987
Rani SachdevDiscipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.
Charles J Shaw-SmithDepartment of Clinical Genetics, Peninsula Regional Clinical Genetics Service, Royal Devon University Hospital, Exeter, UK.
Cas SimonsCentre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.ORCID 0000-0003-3147-8042
Sanjay M SisodiyaDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
Penny SnellBruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.ORCID 0000-0002-9821-5282
Laura St ClairDepartment of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, New South Wales, Australia.
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Helen S StewartOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Tiong Yang TanVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Natalie B TanVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Suzanna E L TempleDepartment of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia.
David R ThorburnVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.ORCID 0000-0002-7725-9470
Cynthia J TifftUndiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.
Eloise UebergangMurdoch Children's Research Institute, Melbourne, Victoria, Australia.ORCID 0000-0003-0305-7822
Grace E VanNoyBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Pradeep VasudevanMedical Genetics, University of Leicester, Leicester Royal Infirmary, Leicester, UK.ORCID 0009-0002-6095-2030
Eric VilainInstitute for Clinical and Translational Science, University of California Irvine, Irvine, CA, USA.
David H ViskochilDivision of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Laura WeddCentre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.
Matthew T WheelerGREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0001-8721-3022
Susan M WhiteVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Monica WojcikDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Lynne A WolfeUndiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.
Zoe WolfensonUndiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.ORCID 0009-0008-2207-5755
Caroline F WrightDepartment of Clinical and Biomedical Sciences, University of Exeter, Exeter, UK.ORCID 0000-0003-2958-5076
Changrui XiaoDepartment of Neurology, University of California Irvine, Irvine, CA, USA.
David ZoccheNorth West Thames Regional Genetics Service, Northwick Park and St Mark's Hospitals, London, UK.
John L RubensteinDepartment of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.
Eirene Markenscoff-PapadimitriouDepartment of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.
Sebastian M FicaDepartment of Biochemistry, University of Oxford, Oxford, UK.ORCID 0000-0001-9186-0361
Diana BaralleSchool of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
Christel DepienneInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.ORCID 0000-0002-7212-9554
Daniel G MacArthurCentre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.
Joanna M M HowsonHuman Genetics Centre of Excellence, Novo Nordisk Research Centre, Oxford, UK.ORCID 0000-0001-7618-0050
Stephan J SandersInstitute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.ORCID 0000-0001-9112-5148
Anne O'Donnell-LuriaBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-6418-9592
Nicola WhiffinBig Data Institute, University of Oxford, Oxford, UK. nwhiffin@well.ox.ac.uk.ORCID 0000-0003-1554-6594
Funding
CTSA UM1 Program at University of UtahUM1TR004409 · NCATS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI RACHEL HESS, Jennifer Juhl Majersik · 2023 to 2026
$21.9MStanford Mendelian Genomics Research CenterU01HG011762 · NHGRI · STANFORD UNIVERSITY · PI Jonathan Adam Bernstein, Stephen Montgomery · 2021 to 2026
$16.7MJoint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MUniversity of Washington (UW) Mendelian Genomics Data Coordinating CenterU24HG011746 · NHGRI · UNIVERSITY OF WASHINGTON · PI Susanne May, ALI SHOJAIE · 2021 to 2026
$14.8MBroad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6MPilot of New Technologies to Increase the Genomic Diagnosis of Undiagnosed Disease Network (UDN) PatientsU01HG007709 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BACINO, CARLOS A., LEE, BRENDAN · 2014 to 2022
$14.3MValidation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Adeline Lucie Vanderver · 2019 to 2026
$14.3MPediatric Mendelian Genomics Research CenterU01HG011745 · NHGRI · UNIVERSITY OF CALIFORNIA-IRVINE · PI Eric J. Vilain · 2021 to 2026
$13.3MClinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN)U01HG007942 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI ENG, CHRISTINE · 2014 to 2021
$10.2MPreclinical and Clincial OutcomesP50HD103555 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI Sandesh Chakravarthy Sreenath Nagamani, David Loren Nelson · 2020 to 2026
$9.9MGenetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4MClinical Outcomes in Aicardi Goutières SyndromeU01NS106845 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI VANDERVER, ADELINE LUCIE · 2019 to 2023
$7.5MNCATS NIH HHS UM1 TR004409NHGRI NIH HHS R01 HG009141NHGRI NIH HHS R21 HG012397NHGRI NIH HHS U01 HG007709NHGRI NIH HHS U01 HG007942NHGRI NIH HHS U01 HG010217NHGRI NIH HHS U01 HG011745NHGRI NIH HHS U01 HG011755NHGRI NIH HHS U01 HG011762NHGRI NIH HHS U24 HG011746NHGRI NIH HHS UM1 HG008900NIAMS NIH HHS K23 AR083505NICHD NIH HHS P50 HD103555NICHD NIH HHS P50 HD105351NIMH NIH HHS R01 MH122681NIMH NIH HHS R01 MH129751NINDS NIH HHS U01 NS106845NINDS NIH HHS U01 NS134348NINDS NIH HHS U01 NS134358NINDS NIH HHS U24 NS131172NINDS NIH HHS U54 NS115052Wellcome Trust 220134
Abstract
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes
Indexed as
MutationNeurodevelopmental DisordersRNA, Small NuclearAdolescentAllelesBrainChildChild, PreschoolFemaleGene Expression Regulation, DevelopmentalHeterozygoteHumansInfantMaleRare DiseasesRNA Splice SitesRNA, Small NuclearRNA Splice SitesU4 small nuclear RNA
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.