ArticlemedRxiv : the preprint server for health sciences2025
Saturation genome editing of
Abstract readPreprint
In one paragraph
Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing 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
1 citing paper in PubMed.
- Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.Journal of human genetics · 2026Article
Corrections and comments
- Updated by
Authors and funding
42 authors.
Joachim De JongheThe Genome Function Laboratory, The Francis Crick Institute, London, UK.ORCID 0000-0003-0584-8265
Hyung Chul KimBig Data Institute, University of Oxford, Oxford, UK.ORCID 0000-0001-5877-5456
Ayanfeoluwa AdedejiThe Genome Function Laboratory, The Francis Crick Institute, London, UK.ORCID 0009-0007-5095-7539
Elsa LeitãoInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.ORCID 0000-0001-5051-9714
Ruebena DawesBig Data Institute, University of Oxford, Oxford, UK.ORCID 0000-0003-2135-0117
Yuyang ChenBig Data Institute, University of Oxford, Oxford, UK.ORCID 0000-0001-5593-6920
Alexander Jm BlakesManchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.ORCID 0000-0002-0260-7020
Cas SimonsCentre for Population Genomics, Garvan Institute of Medical Research, Sydney, Australia.ORCID 0000-0003-3147-8042
Rocio RiusCentre for Population Genomics, Garvan Institute of Medical Research, Sydney, Australia.ORCID 0000-0002-9871-3126
Javeria R AlviDepartment of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan.ORCID 0000-0002-3452-1862
Florence AmblardService de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.
Christina Austin-TseBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Sarah BaerService de pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Elsa V BaltonDepartment of Medicine, University of Washington School of Medicine, Seattle, WA, United States.ORCID 0000-0002-5699-3895
Pierre BlancLaboratoire SeqOIA, Paris, France.
Daniel G CalameSection of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-6860-372X
Charles CouttonService de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.
Chloe A CunninghamVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID 0000-0002-2525-1936
Nitsuh DargieDepartment of Medicine, University of Washington School of Medicine, Seattle, WA, United States.
Katrina M DippleDepartment of Pediatrics, University of Washington, Seattle, WA, United States.
Haowei DuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-9052-1587
Salima El ChehadehService de Génétique Médicale, Institut de Génétique Médicale D'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.ORCID 0000-0003-1613-6570
Ian GlassDepartment of Pediatrics, University of Washington, Seattle, WA, United States.
Joseph G GleesonRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Olivier GrunewaldLaboratoire SeqOIA, Paris, France.ORCID 0000-0002-9845-948X
Paul GueguenLaboratoire SeqOIA, Paris, France.
Radu HarbuzService de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.
Marie-Line JacquemontService de Génétique, CHRU de Tours, Tours, France.
Richard J LeventerVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID 0000-0003-0362-5607
Pierre MarijonLaboratoire SeqOIA, Paris, France.
Olfa MessaoudBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Tipu SultanDepartment of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan.ORCID 0000-0001-9398-2127
Christel ThauvinCentre de référence maladies rares, Déficiences Intellectuelles de Causes Rares, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.ORCID 0000-0002-4155-139X
Catherine Vincent-DelormeClinique de Génétique, Hôpital Jeanne de Flandre, CHU de Lille, Lille, France.ORCID 0009-0007-2194-5176
Elif Yilmaz GulecDepartment of Medical Genetics, Istanbul Medeniyet University Medical School, Istanbul, Turkiye.ORCID 0000-0003-0872-3898
Julien ThevenonService de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.
Rodrigo MendezCardiovascular Medicine, Stanford University, Stanford, CA, USA.ORCID 0000-0001-6465-452X
Daniel G MacArthurCentre for Population Genomics, Garvan Institute of Medical Research, Sydney, Australia.ORCID 0000-0002-5771-2290
Christel DepienneInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.ORCID 0000-0002-7212-9554
Caroline NavaLaboratoire SeqOIA, Paris, France.ORCID 0000-0003-1272-0518
Nicola WhiffinBig Data Institute, University of Oxford, Oxford, UK.ORCID 0000-0003-1554-6594
Gregory M FindlayThe Genome Function Laboratory, The Francis Crick Institute, London, UK.ORCID 0000-0002-7767-8608
Funding
The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MChild Neurologist Career Development Program (CNCDP)K12NS098482 · NINDS · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI SCHLAGGAR, BRADLEY L · 2016 to 2025
$26.2MBroad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6MFrequency of variants of unknown significance by ancestry groups in the All of Us Research Program cohortU01HG011758 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI RICHARD A GIBBS, JAMES R. LUPSKI · 2021 to 2026
$13.8MWhat comes next? Engaging stakeholders in governance of participant data and relationships during the sunset of large genomic medicine research initiativesU01HG010218 · NHGRI · STANFORD UNIVERSITY · PI ASHLEY, EUAN A, BERNSTEIN, JONATHAN ADAM · 2018 to 2022
$6.3MPacific Northwest Undiagnosed Diseases Network Clinical SiteU01HG010233 · NHGRI · UNIVERSITY OF WASHINGTON · PI DIPPLE, KATRINA M, JARVIK, GAIL PAIRITZ · 2018 to 2022
$5.4MA powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9MNHGRI NIH HHS R01 HG009141NHGRI NIH HHS U01 HG010218NHGRI NIH HHS U01 HG010233NHGRI NIH HHS U01 HG011755NHGRI NIH HHS U01 HG011758NHGRI NIH HHS U54 HG003273NINDS NIH HHS K12 NS098482Wellcome Trust CC2190
Abstract
Recently,
Indexed as
clinical variant interpretationneurodevelopmental disordersnon-coding RNArecessiveReNU syndromeSaturation genome editingsmall 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.