ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Erratum issuedOpen access · hybridAbstract read
In one paragraph
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 83 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
83citing papers in PubMed, 2 pooled it
4.6field-weighted citation impact, top 4% 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
83 citing papers in PubMed, 2 syntheses or guidelines pooled it, 132 citations in OpenAlex.
- Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.Human genomics · 2024Pooled it
- Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.Nature genetics · 2022Pooled it
- Clonazepam repurposing inJournal of medical genetics · 2025Trial
- Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.American journal of human genetics · 2026Article
- TALE and Hox Transcription Factors Modulate Adult Behaviors in Zebrafish.Behavior genetics · 2026Article
- Focal cortical dysplasia: An under-recognized neuroimaging finding in ARID1B-related disorders.Epileptic disorders : international epilepsy journal with videotape · 2026Article
- 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
- Multimodal imaging reveals resilient memory networks in carriers of pathogenic ARID1B variants.Translational psychiatry · 2026Article
- TALE and Hox Transcription Factors Control Adult Behaviors in Zebrafish.bioRxiv : the preprint server for biology · 2026Article
- Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.European journal of pediatrics · 2026Article
- Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions.Acta neuropathologica communications · 2026Article
- Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.European journal of pediatrics · 2026Article
- GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.American journal of human genetics · 2026Article
- Intranasal exosome therapy in Coffin-Siris syndrome: Clinical evaluation of three children.Surgical neurology international · 2026Article
- Infantile giant intracranial-extracranial communicating mixed germ cell tumor with ARID1B gene mutation: a case report.Frontiers in oncology · 2026Article
- Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome.Epilepsy & behavior reports · 2025Article
- Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically.Genome medicine · 2025Article
- Article
- Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants.Medicina (Kaunas, Lithuania) · 2025Article
- Disrupted diencephalon development and neuropeptidergic pathways in zebrafish with autism-risk mutations.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
23 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Commented on by
- Erratum issued
Authors and funding
105 authors at 20 institutions in 18 countries.
Pleuntje J van der SluijsDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Sandra JansenDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Samantha A VerganoDivision of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA, USA.
Miho Adachi-FukudaDepartment of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan.
Yasemin AlanaySchool of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Acibadem University, Istanbul, Turkey.
Adila AlKindyDepartment of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.
Anwar BabanPediatric Cardiology and Cardiac Surgery Department, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.
Allan BayatCopenhagen University Hospital Hvidovre, Copenhagen, Denmark.
Stefanie Beck-WödlDepartment of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Katherine BerryDepartment of Medical Genetics, Shodair Hospital, Helena, MT, USA.
Emilia K BijlsmaDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Levinus A BokDepartment of Pediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.
Alwin F J BrouwerDepartment of Paediatrics, Nij Smellinghe Hospital, Drachten, The Netherlands.
Ineke van der BurgtDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Philippe M CampeauDepartment of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
Natalie CanhamNorth West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.
Krystyna ChrzanowskaDepartment of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Yoyo W Y ChuDepartment of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Brain H Y ChungDepartment of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Karin DahanCenter for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Marjan De RademaekerCenter for Medical Genetics, Vrije Universiteit Brussels, Brussels, Belgium.
Anne DestreeCenter for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Tracy Dudding-BythHunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia.
Rachel EarlDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Nursel ElciogluDepartment of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.
Ellen R EliasDepartment of Pediatrics and Genetics, University of Colorado Denver School of Medicine, Aurora, CO, USA.
Christina FagerbergDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Alice GardhamNorth West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.
Blanca GenerDepartment of Genetics, Cruces University Hospital, Biocruces Health Research Institute, Vizcayam, Spain.
Erica H GerkesUniversity of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Ute GrasshoffDepartment of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Arie van HaeringenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Karin R HeitinkDepartment of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Johanna C HerkertUniversity of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Nicolette S den HollanderDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Denise HornInstitute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.
David HuntWessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
Sarina G KantDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Mitsuhiro KatoDepartment of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
Hülya KayseriliMedical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey.
Rogier KersseboomDepartment of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Esra KilicDepartment of Pediatric Genetics, Hematology Oncology Research & Training Children's Hospital, Ankara, Turkey.
Malgorzata Krajewska-WalasekDepartment of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Kylin LammersDepartment of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.
Lone W LaulundDepartment of Paediatrics, Odense University Hospital, Odense, Denmark.
Damien LedererCenter for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Melissa LeesDepartment of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
Vanesa López-GonzálezSección de Genética Médica, Servicio de Pediatria, Hospital Clinico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain.
Saskia MaasDepartment of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Grazia M S ManciniDepartment of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Carlo MarcelisDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Francisco MartinezUnidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Isabelle MaystadtCenter for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Marianne McGuireDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
Shane McKeeNorthern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, Ireland.
Sarju MehtaEast Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom.
Kay MetcalfeManchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Jeff MilunskyCenter for Human Genetics Inc, Cambridge, MA, USA.
Seiji MizunoDepartment of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan.
John B MoeschlerDepartment of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA.
Christian NetzerInstitute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Charlotte W OckeloenDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Barbara Oehl-JaschkowitzGemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany.
Nobuhiko OkamotoDepartment of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Sharon N M OlminkhofWillem Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.
Carmen OrellanaUnidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Laurent PasquierCRMR Déficiences intellectuelles, Service de Génétique Médicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.
Caroline PottingerAll Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom.
Vera RiehmerInstitute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Stephen P RobertsonDunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Maian RoifmanDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Caroline RooryckDepartment of Medical Genetics, CHU Bordeaux, Bordeaux, France.
Fabienne G RopersDepartment of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
Monica RoselloUnidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Claudia A L RuivenkampDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Mahmut S SagirogluGenpute Computation Technologies Company, Istanbul, Turkey.
Suzanne C E H SalleveltDepartment of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Amparo Sanchis CalvoServicio de Pediatría, Hospital Universitario Doctor Peset, Valencia, Spain.
Pelin O Simsek-KiperDepartment of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
Gabriela SoaresJacinto de Magalhães Medical Genetics Center, Centro Hospitalar do Porto, Porto, Portugal.
Lucia SolaecheDepartamento de neurometabólicas, Hospital Universitario Son Espases, Palma de Mallorca, Spain.
Fatma Mujgan SonmezKaradeniz Technical University, Faculty of Medicine, Dept of Child Neurology, Retired Professor, Trabzon, Turkey.
Miranda SplittNorthern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, United Kingdom.
Duco SteenbeekDepartment of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Alexander P A StegmannDepartment of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Constance T R M StumpelDepartment of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Saori TanabeDivision of Pediatrics, Yamagata Prefectural and Sakata Munici pal Hospital Organization Nihon-Kai General Hospital, Sakata, Japan.
Eyyup UctepeEnva Engineering, Ankara, Turkey.
G Eda UtineDepartment of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
Hermine E Veenstra-KnolUniversity of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Sunita VenkateswaranDivision of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Catheline VilainDepartment of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.
Catherine Vincent-DelormeService de génétique clinique Guy Fontaine, CHRU de Lille-Hôpital Jeanne de Flandre, Lille, France.
Anneke T Vulto-van SilfhoutDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Patricia WheelerDivision of Genetics, Arnold Palmer Hospital, Orlando, FL, USA.
Golder N WilsonKinderGenome Genetics, Medical City Hospital Dallas, Dallas, TX, USA.
Louise C WilsonDepartment of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
Bernd WollnikInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Tomoki KoshoCenter for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Dagmar WieczorekInstitute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
Evan EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Rolph PfundtDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Bert B A de VriesDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Jill Clayton-SmithManchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Gijs W E SantenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. santen@lumc.nl.
Leiden University Medical Center · NLInstitute of Pathology and Genetics · BERadboud University Medical Center · NLHospital Universitari i Politècnic La Fe · ESMaastricht University · NLRadboud University Nijmegen · NLChildren's Memorial Health Institute · PLErasmus MC - Sophia Children’s Hospital · NLGreat Ormond Street Hospital for Children NHS Foundation Trust · GBHacettepe University Hospital · TROdense University Hospital · DKSt Mary's Hospital · GBUniversity Hospital Cologne · DEUniversity Medical Center Groningen · NLUniversity of Hong Kong · HKUniversity of Washington · USAcıbadem University · TRAddenbrooke's Hospital · GBAichi Human Service Center · JPArnold Palmer Hospital for Children · US
Funding
Medical Research Council MC_PC_16018
Abstract
purposePathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting.
methodsClinicians entered clinical data in an extensive web-based survey.
results79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified.
conclusionThere are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features.
Indexed as
Abnormalities, MultipleAdolescentAdultChildChild, PreschoolChromosomal Proteins, Non-HistoneDNA-Binding ProteinsExomeFaceFemaleGenetic Association StudiesGenetic VariationHand Deformities, CongenitalHumansInfantInfant, NewbornARID1B protein, humanChromosomal Proteins, Non-HistoneDNA-Binding ProteinsTranscription FactorsARID1BbiasCoffin–Siris syndromeintellectual disability
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
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.