ArticlemedRxiv : the preprint server for health sciences2026
A class of deep intronic
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Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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0citing papers in PubMed
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What it found
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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.
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Who cites it
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Authors and funding
48 authors.
Sarah SilversteinNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.ORCID 0000-0003-3428-3734
Andrew D NguyenInherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.
Rotem OrbachNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.
Sandra DonkervoortNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.
Thomas CassiniDepartment of Pediatrics, Vanderbilt University Medical Center, Nashville TN.
Mary KoziuraDepartment of Pediatrics, Vanderbilt University Medical Center, Nashville TN.
Véronique BolducNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.
Audrey M WinkelsasInherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.
Ester MasatiInherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.
Shreya NandiInherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.
George HarmisonInherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.
Brian JohnsonInherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.
Kory JohnsonBioinformatics Core, NINDS, NIH Bethesda MD.
Sarah E Kargbo-HillInherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.
Jason J BussgangInherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.
Jahan MisraInherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.
Ishaan SharmaInherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.
Jordan E BontragerUniversity of Rochester Medical Center, Department of Neurology, NY.
David N HerrmannUniversity of Rochester Medical Center, Department of Neurology, NY.
Francesco VetriniUndiagnosed Rare Disease Clinic (URDC), Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Erin ConboyUndiagnosed Rare Disease Clinic (URDC), Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Adam ComerDepartment of Neurology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Kayla TreatUndiagnosed Rare Disease Clinic (URDC), Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Katelyn PayneDepartment of Neurology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Khurram LiaqatUndiagnosed Rare Disease Clinic (URDC), Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Aneesh G PatankarInherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.
Alayne P MeyerDivision of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
Daniel C KoboldtThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.
Anne M ConnollyThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.
Richard ShellDepartment of Pediatrics, The Ohio State University College of Medicine, Columbus, OH.
Anthony R MillerThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.
Pimchanok KulsirichawarojDepartment of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Oranee SanmaneechaiDepartment of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Kullasate SakpichaisakulDepartment of Pediatrics, Queen Sirikit National Institute of Child Health, Ministry of Public Health, Bangkok, Thailand.
Kyeyoon ParkStem Cell Unit, NINDS, NIH Bethesda MD.
Yan LiProteomics Core Facility, NINDS, NIH Bethesda MD.
Diana Bharucha-GoebelNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.
William MackenDepartment of Neuromuscular diseases, UCL Queen Square Institute of Neurology, Queen Square House, London WC1N 3BG, UK.
Anna SarkozyDubowitz Neuromuscular Centre, Great Ormond Street Hospital, Institute of Child Health, University College London, London, UK.
James PolkeNational Hospital for Neurology and Neurosurgery and North Thames Genomics Laboratory Hub Rare Disease Laboratory, Queen Square, London, UK.
Adnan Y ManzurDubowitz Neuromuscular Centre, Great Ormond Street Hospital, Institute of Child Health, University College London, London, UK.
A Reghan FoleyNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.ORCID 0000-0003-2168-1119
Katherine R ChaoBroad Institute of MIT/Harvard, Boston MA.
Sarah NeuhausNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.
David R AdamsOffice of the clinical director, NHGRI, NIH Bethesda MD.
Michael WardInherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.ORCID 0000-0002-5296-8051
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.
Christopher GrunseichInherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.ORCID 0000-0003-4994-2472
Funding
Molecular and Clinical Manifestations of Matrix and Aggregate MyopathiesZIANS003129 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI BÖNNEMANN, CARSTEN · 2011 to 2025
$52.8MtrainingU54NS065712 · NINDS · WAYNE STATE UNIVERSITY · PI SHY, MICHAEL E. · 2009 to 2023
$19.6MVanderbilt Center for Undiagnosed Diseases (VCUD) - BiorepositoryU01HG007674 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI COGAN, JOY D, HAMID, RIZWAN · 2014 to 2022
$13.7MStudies of inherited neuromuscular diseasesZIANS009455 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI GRUNSEICH, CHRISTOPHER · 2024 to 2025
$5.6MIntramural NIH HHS ZIA NS003129Intramural NIH HHS ZIA NS009455NHGRI NIH HHS U01 HG007674NINDS NIH HHS U54 NS065712
Abstract
Biallelic disease-causing variants in
Indexed as
DiagnosisiPSC derived Motor NeuronsLong-Read SequencingNeuromuscular DiseasesNoncoding variantsPrecision MedicineRare DiseasesRNA-SeqSplicing
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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.