ArticleJournal of medical genetics2026
Abstract read
In one paragraph
Article in Journal of medical genetics, 2026. 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.
- Genome-wide study of somatic symptom and related disorders identifies novel genomic loci and map genetic architecture.medRxiv : the preprint server for health sciences · 2025Article
Corrections and comments
- Update of
Authors and funding
36 authors.
Carolyn LeDepartment of Neurology, University of California San Francisco, San Francisco, California, USA.
Tugba KalayciMedical Genetics Department, Istanbul University Faculty of Medicine, Istanbul, Turkey.
Zehra UygunerMedical Genetics Department, Istanbul University, Istanbul, Turkey.
Birsen KaramanMedical Genetics Department, Istanbul University Faculty of Medicine, Istanbul, Turkey.
Tanju DemirörenFaculty of Medicine, Department of Obstetrics and Gynecology, Yeditepe University, Istanbul, Turkey.
Bodo BeckKlinikum der Universitat zu Koln Institut fur Humangenetik, Cologne, Germany.
Nora WinnerlingUniversitatsklinikum Koln Institut fur Humangenetik, Cologne, Germany.
Elizabeth GeorgeDepartment of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, California, USA.
Stephanie DiTroiaCenter for Mendelian Genomics, Broad Institute, Cambridge, Massachusetts, USA.
Delphine HéronUniversité Paris-Sorbonne, Paris, France.
Isabelle SabatierDepartment of Pediatric Neurology, Hôpital Femme Mère Enfant, Bron, France.
Lance H RodanDivision of Genetics and Genomics and Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Katta M GirishaManipal Academy of Higher Education, Kasturba Medical College Manipal, Manipal, India.ORCID http://orcid.org/0000-0002-0139-8239
Periyasamy RadhakrishnanManipal Academy of Higher Education, Kasturba Medical College Manipal, Manipal, India.
Carol SaundersDepartment of Pathology and Laboratory Medicine, Children's Mercy Kansas, Kansas City, Missouri, USA.ORCID http://orcid.org/0000-0002-7407-7735
Bonnie SullivanDepartment of Pathology and Laboratory Medicine, Children's Mercy Kansas, Kansas City, Missouri, USA.
Emily FlemingDepartment of Pathology and Laboratory Medicine, Children's Mercy Kansas, Kansas City, Missouri, USA.
Javeria Raza AlviDepartment of Paediatrics, The Children's Hospital and University of Child Health Sciences, Lahore, Punjab, Pakistan.
Tipu SultanDepartment of Paediatrics, The Children's Hospital and University of Child Health Sciences, Lahore, Punjab, Pakistan.
Henry HouldenDepartment of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London, UK.
Stephanie EfthymiouDepartment of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0003-4900-9877
Maria J Guillen SacotoGeneDx LLC, Gaithersburg, Maryland, USA.
Melanie GoodmanOchsner Health System, New Orleans, Louisiana, USA.
Lucie PierronUniversity Hospital Pitié Salpêtrière, Paris, France.ORCID http://orcid.org/0000-0002-2888-3226
Jean-Madeleine de Sainte AgatheUniversity Hospital Pitié Salpêtrière, Paris, France.ORCID http://orcid.org/0000-0002-7753-8226
Alexandra DurrParis Brain Institute, Sorbonne Universite, Paris, France.
Hector Rodrigo MendezStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.
Matthew T WheelerCenter for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, California, USA.
Jennefer N CarterStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.
Jonathan A BernsteinStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.ORCID http://orcid.org/0000-0001-5369-346X
Biljana GagachovskaDepartment of Child and Adolescent Psychiatry, Saints Cyril and Methodius University in Skopje, Skopje, North Macedonia.
Slavica TrajkovaDepartment of Neurosciences, University of Torino Library System, Torino, Italy.
Alfredo BruscoDepartment of Medical Sciences, University of Torino Library System, Torino, Italy.ORCID http://orcid.org/0000-0002-8318-7231
Elliott SherrDepartment of Neurology, University of California San Francisco, San Francisco, California, USA.
Emanuela ArgilliDepartment of Neurology, University of California San Francisco, San Francisco, California, USA Emanuela.Argilli@ucsf.edu.ORCID http://orcid.org/0000-0002-6575-7501
Undiagnosed Diseases Network
Funding
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MBroad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6MDe novo copy number variation and gene discovery in human brain malformationsR01NS058721 · NINDS · UNIVERSITY OF CHICAGO · PI ARGILLI, EMANUELA · 2008 to 2025
$10.9MWhat 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
$6.3MA 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 HG011755NHGRI NIH HHS UM1 HG008900NINDS NIH HHS R01 NS058721Wellcome Trust
Abstract
background
methods15 individuals from 13 unrelated families carrying
results
conclusionCollectively, our data establish
Indexed as
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesExome SequencingHuman GeneticsNervous System MalformationsPhenotype
Identifiers
What OpenQuestion holds
Textmetadata
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.