ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Open access · bronzeAbstract readPublished Erratum
In one paragraph
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. 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
0.3field-weighted citation impact, top 35% of its field
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, 2 citations in OpenAlex.
- Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.European journal of human genetics : EJHG · 2023Article
Corrections and comments
- Erratum for
Authors and funding
59 authors at 20 institutions in 9 countries.
Chiara KlöcknerInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Heinrich StichtInstitute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Pia ZacherThe Saxon Epilepsy Center Kleinwachau, Radeberg, Germany.
Bernt PoppInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Holly E BabcockRare Disease Institute, Children's National Hospital, Washington, DC, USA.
Dewi P BakkerDepartment of Child Neurology, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
Katy BarwickInstitute of Child Health, University Collge London, London, UK.
Michaela V BonfertDepartment of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU - University Hospital, LudwigMaximilians-Universität, Munich, Germany.
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Eva H BrilstraDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Care4Rare Canada Consortium
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY, USA.
Angus J ClarkeDivision of Cancer & Genetics, School of Medicine, Cardiff University, Wales, UK.
Patrick DevineDepartment of Pathology, University of California San Francisco, San Francisco, CA, USA.
Sandra DonkervoortNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Jamie L FraserRare Disease Institute, Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
Jennifer FriedmanDepartments of Neurosciences and Pediatrics, University of California San Diego and Division of Neurology, Rady Children's Hospital, San Diego, CA, USA.
Alyssa GatesDepartment of Genetic Services, Kaiser Permanente Washington, Seattle, WA, USA.
Jamal GhoumidService de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.
Emma HobsonYorkshire Clinical Genetics Service, Chapel Allerton Hospital, Leeds, UK.
Gabriella HorvathDepartment of Pediatrics, Division of Biochemical Diseases, University of British Columbia, Vancouver, Canada.
Jennifer Keller-RameyGeneDx, Gaithersburg, MD, USA.
Boris KerenAPHP, Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France.
Manju A KurianInstitute of Child Health, University Collge London, London, UK.
Virgina LeeDepartment of Neurology, University of California San Francisco, San Francisco, CA, USA.
Kathleen A LeppigDepartment of Genetic Services, Kaiser Permanente Washington, Seattle, WA, USA.
Johan LundgrenInstitute of Clinical Sciences, Skane University Hospital, Lund, Sweden.
Marie T McDonaldDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Heather M McLaughlinInvitae Corporation, San Francisco, CA, USA.
Amy McTagueInstitute of Child Health, University Collge London, London, UK.
Heather C MeffordDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
Cyril MignotDépartement de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et Hôpital Trousseau, APHP, Sorbonne Université, Paris, France.
Mohamad A MikatiDivision of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Caroline NavaSorbonne University, Paris Brain Institute, Inserm U1127, CNRS UMR 7225, AP-HP, Pitié Salpêtrière Hospital, Department of Genetics, Paris, France.
F Lucy RaymondNIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
Julian R SampsonDivision of Cancer & Genetics, School of Medicine, Cardiff University, Wales, UK.
Alba Sanchis-JuanNIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
Vandana ShashiDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Joseph T C ShiehDivision of Medical Genetics, University of California, San Francisco, San Francisco, CA, USA.
Marwan ShinawiDepartment of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Anne SlavotinekDivision of Medical Genetics, University of California, San Francisco, San Francisco, CA, USA.
Tommy StödbergDepartment of Women's and Children's Health Karolinska Institutet, Stockholm, Sweden.
Nicholas StongInstitute for Genomic Medicine, Columbia University, New York, NY, USA.
Jennifer A SullivanDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Ashley C TaylorSection of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Tomi L TolerDepartment of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Marie-José van den BoogaardDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Saskia N van der CrabbenDepartment of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Koen L I van GassenDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Richard H van JaarsveldDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Jessica Van ZiffleDepartment of Pathology, University of California San Francisco, San Francisco, CA, USA.
Alexandrea F WadleyUniversity of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Matias WagnerInstitute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany.
Kristen WigbyDepartment of Pediatrics, Division of Genetics, University of California, San Diego and Rady Children's Hospital-San Diego, San Diego, CA, USA.
Saskia B WortmannAmalia Children's Hospital, Radboud University Nijmegen, Nijmegen, The Netherlands.
Yuri A ZarateSection of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Rikke S MøllerInstitute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Johannes R LemkeInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Konrad PlatzerInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. konrad.platzer@medizin.uni-leipzig.de.
University of California, San Francisco · USDuke Medical Center · USLeipzig University · DEUniversity Medical Center Utrecht · NLUniversity College London · GBAmsterdam University Medical Centers · NLCardiff University · GBChildren's National · USKaiser Permanente · USNational Institutes of Health · USUniversity of Oklahoma Health Sciences Center · USWashington University in St. Louis · USAssistance Publique – Hôpitaux de Paris · FRCambridge University Hospitals NHS Foundation Trust · GBChapel Allerton Hospital · GBColumbia University · USColumbia University Irving Medical Center · USEpilepsiezentrum Kleinwachau Gemeinnützige · DEFriedrich-Alexander-Universität Erlangen-Nürnberg · DEHelmholtz Zentrum München · DE
Funding
Molecular and Clinical Manifestations of Matrix and Aggregate MyopathiesZIANS003129 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI BÖNNEMANN, CARSTEN · 2011 to 2025
$52.8MDepartment of Health RP-2016-07-019Medical Research Council MR/T007087/1
Abstract
PubMed holds no abstract for this paper.
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What OpenQuestion holds
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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.