ArticleGenetics in medicine open2024
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Article in Genetics in medicine open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
0numbers the graph read from it
0cells of the map it votes in
4citing 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
4 citing papers in PubMed.
- ARID1B damaging variants from more than one million genomes, cause human diseases by impairing protein-protein interactions, stability, and regulation.bioRxiv : the preprint server for biology · 2026Article
- Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically.Genome medicine · 2025Article
- Rest Induces a Distinct Transcriptional Program in the Nervous System of the ExercisedInternational journal of molecular sciences · 2025Article
- Early diagnosis of vascular Ehlers-Danlos syndrome through AI-powered facial analysis: Results from the Montalcino Aortic Consortium.Genetics in medicine open · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
86 authors.
P J van der SluijsDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
M GösgensDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
A J M DingemansDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
P StrianoPediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.
A RivaDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.
C MignotService de génétique médicale, APHP Pitié-Salpêtrière, Paris, France.
A FaudetDépartement de Génétique, Assistance publique - Hôpitaux de Paris Sorbonne Université, Hôpital Pitié-Salpêtrière et Trousseau, Paris, France.
G VasileiouInstitute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
M WaltherInstitute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
S A Schrier VerganoChildren's Hospital of The King's Daughters, Norfolk, VA.
M AldersSection Clinical Genetics, Department of Human Genetics, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
F S AlkurayaDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
I AlorainyDepartment of Radiology and Diagnostic Imaging, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia.
H S AlsaifDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
B AnderlidClinical Genetics Karolinska Universitet Hospital and Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
I BacheDepartment of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
I van BeekSection Clinical Genetics, Department of Human Genetics, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
M BlanluetService de Génétique Oncologique, Institut Curie, Paris, France.
B W van BonDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
T BrunetInstitute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
H BrunnerDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
M L CarrieroMedical Genetics, University of Siena, Siena, Italy.
P CharlesService de génétique médicale, APHP Pitié-Salpêtrière, Paris, France.
N ChatronService de génétique, Hospices Civils de Lyon ERN ITHACA, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France.
E CocciaDepartment of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy.
C DubourgService de Génétique Moléculaire et Génomique Médicale, CHU de Rennes, Rennes, France.
R K EarlDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA.
E E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA.
L FaivreCentre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France.
N FouldsWessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, United Kingdom.
C GrazianoMedical Genetics Unit, AUSL Romagna, Cesena, Italy.
A M GuerrotDepartment of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.
M O HashemDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
S HeideDépartement de Génétique, Assistance publique - Hôpitaux de Paris Sorbonne Université, Hôpital Pitié-Salpêtrière et Trousseau, Paris, France.
D HeronDépartement de Génétique, Assistance publique - Hôpitaux de Paris Sorbonne Université, Hôpital Pitié-Salpêtrière et Trousseau, Paris, France.
S E HickeyDivision of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
S M J HopmanDepartment of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
A Kattentidt-MouravievaStichting Zuidwester, Middelharnis, the Netherlands.
J KerkhofVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.
J S Klein Wassink-RuiterDepartment of Genetics, University of Groningen, University Medical Center Groningen, the Netherlands.
E C Kurtz-NelsonDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA.
K KušíkováDepartment of Pediatric Neurology, Faculty of Medicine, Comenius University and National Institute of Children's Diseases, Bratislava, Slovakia.
M KvarnungClinical Genetics Karolinska Universitet Hospital and Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
F LecoquierreDepartment of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.
G S LeszinskiInstitute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
L LobertiMedical Genetics, University of Siena, Siena, Italy.
P L MagoulasDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
F MariMedical Genetics, University of Siena, Siena, Italy.
I MaystadtCentre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
G MerlaDepartment of Molecular Medicine & Medical Biotechnology, University of Naples Federico II, Naples, Italy.
J M MilunskyCenter for Human Genetics Inc, Cambridge, MA.
S MoortgatCentre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
G NicolasDepartment of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.
M O ' LearyBroad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA.
S OdentUniv Rennes, CNRS, INSERM, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, ERL U1305, RENNES, France.
J R OzmoreMedical Genetics, Dartmouth Hitchcock Medical Center, Lebanon, NH.
K ParbhooDivision of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
R PfundtDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
M PiccioneMedical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy.
A M PintoMedical Genetics, University of Siena, Siena, Italy.
B PoppBerlin Institute of Health at Charitè, Universitätsklinikum Berlin, Centre of Functional Genomics, Berlin, Germany.
A PutouxService de génétique, Hospices Civils de Lyon ERN ITHACA, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France.
H L RehmBroad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA.
A ReisInstitute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
A RenieriMedical Genetics, University of Siena, Siena, Italy.
J A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
M RossiService de génétique, Hospices Civils de Lyon ERN ITHACA, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France.
E SalzanoMedical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy.
P Saugier-VeberDepartment of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.
M SeriDepartment of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy.
G SeveriDepartment of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy.
F M SonmezDepartment of Child Neurology, Karadeniz Technical University Faculty of Medicine, Retired Lecturer, Trabzon, Turkey.
G Strobl-WildemannMVZ Humangenetik Ulm, Ulm, Germany.
K E StuurmanDepartment of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.
E UctepeAcıbadem Labmed Ankara Tissue Typing Laboratory, Ankara, Turkey.
H Van EschCenter for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
G VitettaDepartment of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy.
B B A de VriesDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
D WahlDepartment of Clinical Genetics, MVZ Martinsried, Munich, Germany.
T WangDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA.
P ZacherEpilepsy Center Kleinwachau, Radeberg, Germany.
K R HeitinkDepartment of Rehabilitation Medicine, Leiden University Medical Center, Leiden, the Netherlands.
F G RopersWillem-Alexander Children's Hospital, department of Pediatrics, Leiden University Medical Center, the Netherlands.
D SteenbeekDepartment of Rehabilitation Medicine, Maastricht University Medical Center / Adelante Rehabilitation, Maastricht, The Netherlands.
T Rybak's Heeren Loo Noordwijk, Noordwijk, the Netherlands.
G W E SantenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Funding
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MSporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2MA 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 UM1 HG008900NIMH NIH HHS R01 MH101221
Abstract
Purpose: Methods: Data on patients aged 18+ years with Results: Eighty-seven adult patients with Conclusion: The
Indexed as
AdultARID1BCoffin–Siris syndromeDevelopmental delayIntellectual disability
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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.