ArticleJournal of medical genetics2023
Open access · hybridAbstract read
In one paragraph
Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
3.1field-weighted citation impact, top 8% 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
7 citing papers in PubMed, 10 citations in OpenAlex.
- The Golgi apparatus: adaptations to neuronal shape and functions.The EMBO journal · 2026Review
- Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- ARF1-Related Diseases in China: The Initial Study of Phenotype and Molecular Profile.Journal of cellular and molecular medicine · 2025Article
- Unfolding ARF and ARL GTPases: from biophysics to systems-level insights.Frontiers in molecular biosciences · 2025Review
- IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport.Cellular and molecular life sciences : CMLS · 2024Article
- TBC1D23 mediates Golgi-specific LKB1 signaling.Nature communications · 2024Article
- Expression analysis of type I ARF small GTPases ARF1-3 during mouse brain development.Molecular biology reports · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
49 authors at 20 institutions in 9 countries.
Jean-Madeleine de Sainte AgatheDepartment of Medical Genetics, Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France jean-madeleine.desainteagathe@aphp.fr.ORCID 0000-0002-7753-8226
Ben Pode-ShakkedDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.ORCID 0000-0001-6017-9629
Sophie NaudionService de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
Vincent MichaudService de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.ORCID 0000-0002-5788-392X
Benoit ArveilerService de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
Patricia FergelotService de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
Jean DelmasPediatric and Prenatal Imaging Department, Centre Hospitalier Universitaire de Bordeaux Groupe hospitalier Pellegrin, Bordeaux, France.ORCID 0000-0002-6847-4953
Boris KerenDepartment of Medical Genetics, Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France.
Céline PoirsierDépartement de génétique médicale, CHU Reims, Reims, France.
Fowzan S AlkurayaDepartment of Translational Genomic, Center for Genomic Medicine, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.ORCID 0000-0003-4158-341X
Brahim TabarkiDivision of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military and Medical City, Riyadh, Saudi Arabia.
Eric BendPreventionGenetics LLC, Marshfield, Wisconsin, USA.ORCID 0000-0002-1283-9036
Kellie DavisDivision of Medical Genetics, Royal University Hospital, Saskatoon, Saskatchewan, Canada.
Martina BebinUAB Epilepsy Center, The University of Alabama at Birmingham Hospital, Birmingham, Alabama, USA.ORCID 0000-0003-1264-3428
Michelle L ThompsonGreg Cooper's Laboratory, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.ORCID 0000-0001-8134-9017
Emily M BryantGillette Children's Specialty Healthcare, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.ORCID 0000-0001-5393-6687
Matias WagnerInstitute of Human Genetics, Technische Universitat Munchen, Munchen, Germany.ORCID 0000-0002-4454-8823
Iris HannibalDepartment of Pediatrics, University Hospital Munich, Munchen, Germany.
Jerica LenbergRady Children's Institute for Genomic Medicine, San Diego, California, USA.
Martin KrennDepartment of Neurology, Medizinische Universitat Wien, Wien, Austria.ORCID 0000-0003-3026-3082
Kristen M WigbyRady Children's Hospital-San Diego, University of California, San Diego, California, USA.
Jennifer R FriedmanDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
Maria IasconeLaboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.ORCID 0000-0002-4707-212X
Anna CeredaPediatric Department, ASST Papa Giovanni XXIII, Bergamo, Italy.ORCID 0000-0002-1317-5657
Térence MiaoDepartment of Medical Genetics, Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France.
Eric LeGuernDepartment of Medical Genetics, Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France.ORCID 0000-0003-0013-9646
Emanuela ArgilliDepartment of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA.
Elliott SherrDepartment of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA.
Oana CaluseriuDepartment of Medical Genetics, University of Alberta Hospital, Edmonton, Alberta, Canada.
Timothy TidwellARUP Laboratories, Salt Lake City, Utah, USA.
Pinar Bayrak-ToydemirDepartment of Pathology, University of Utah, Salt Lake City, Utah, USA.
Caroline HagedornDivision of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
Melanie BruggerInstitute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munchen, Germany.ORCID 0000-0002-6920-8550
Katharina VillFachbereich Neuromuskuläre Erkrankungen und klinische Neurophysiologie, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität, Munich, Germany.
Francois-Dominique Morneau-JacobDivision of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
Wendy ChungDepartments of Pediatrics and Medicine, Columbia University, New York City, New York, USA.ORCID 0000-0003-3438-5685
Kathryn N WeaverDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.ORCID 0000-0002-3991-135X
Joshua W OwensDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Ammar HusamiDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.ORCID 0000-0002-4287-2857
Bimal P ChaudhariDivisions of Neonatology, Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
Brandon S StoneDivisions of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
Katie BurnsSanford Children's Specialty Clinic, Sioux Falls, South Dakota, USA.
Rachel LiDepartment of Pediatrics, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota, USA.
Iris M de LangeDepartment of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Margaux BiehlerLaboratories of Genetic Diagnosis, Institut de Génétique Médicale d'Alsace (IGMA), Strasbourg University Hospitals, Strasbourg, France.
Emmanuelle GinglingerGénétique médicale, GHRMSA Hôpital Emile Muller, Mulhouse, France.
Bénédicte GérardLaboratories of Genetic Diagnosis, Institut de Génétique Médicale d'Alsace (IGMA), Strasbourg University Hospitals, Strasbourg, France.
Rolf W StottmannDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Aurélien TrimouilleService de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.ORCID 0000-0002-3457-5684
Cincinnati Children's Hospital Medical Center · USInserm · FRSorbonne Université · FRCentre Hospitalier Universitaire de Bordeaux · FRChildren’s Institute · USNationwide Children's Hospital · USOspedale Papa Giovanni XXIII · ITSan Francisco General Hospital · USUniversité de Strasbourg · FRUniversity of Utah · USAlberta Hospital Edmonton · CAARUP Laboratories (United States) · USCentre Hospitalier Universitaire de Reims · FRColumbia University · USHelmholtz Zentrum München · DEHôpital Émile-Roux · FRHudsonAlpha Institute for Biotechnology · USKing Faisal Specialist Hospital & Research Centre · SALudwig-Maximilians-Universität München · DELurie Children's Hospital · US
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose
methodsWe collected detailed phenotypes of an international cohort of individuals (n=17) with
resultsDe novo variants (10 missense, 1 frameshift, 1 splice altering resulting in 9 residues insertion) in
conclusionWe confirm the role of
Indexed as
Intellectual DisabilityMicrocephalyPeriventricular Nodular HeterotopiaADP-Ribosylation Factor 1BrainGenotypeHumansPhenotypeSeizuresADP-Ribosylation Factor 1ARF1 protein, humanepilepsyhuman geneticssequence analysis, DNA
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC
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.