ArticleBrain : a journal of neurology2016
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
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In one paragraph
Article in Brain : a journal of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 1 pooled it
1.9field-weighted citation impact, top 14% of its field
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.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.Genes · 2023Pooled it
- Multimodal imaging reveals resilient memory networks in carriers of pathogenic ARID1B variants.Translational psychiatry · 2026Article
- Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.European journal of pediatrics · 2026Article
- The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation.Human genetics · 2024Article
- Loss-of-function variants inJournal of medical genetics · 2024Article
- Article
- Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.American journal of medical genetics. Part C, Seminars in medical genetics · 2023Article
- Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.Nature genetics · 2023Article
- Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies.Biomedicines · 2022Article
- Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Neurobiology of ARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders.Molecular psychiatry · 2022Review
- Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.Journal of human genetics · 2021Article
- A Case Series of FamilialGenes · 2021Article
- The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective.Cellular and molecular life sciences : CMLS · 2021Review
- Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing.Frontiers in genetics · 2021Article
- Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.Journal of human genetics · 2019Article
- The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior.Progress in neuro-psychopharmacology & biological psychiatry · 2019Review
- Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.American journal of human genetics · 2018Article
- Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.Human genetics · 2017Article
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Authors and funding
23 authors at 5 institutions in 1 country.
Cyril MignotAssistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Marie-Laure MoutardAssistance Publique-Hôpitaux de Paris, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris, France.
Agnès RastetterSorbonne Universités, UPMC Univ Paris 06, UMR S 1127, and Inserm U 1127, and CNRS UMR 7225, and ICM, F-75013 Paris, France.
Lucile BoutaudINSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cite and Imagine Institute, 75015 Paris, France.
Solveig HeideAssistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Thierry BilletteAssistance Publique-Hôpitaux de Paris, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris, France.
Diane DoummarAssistance Publique-Hôpitaux de Paris, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris, France.
Catherine GarelAssistance Publique-Hôpitaux de Paris, Service de Radiologie, Hôpital Armand Trousseau, Paris, France.
Alexandra AfenjarAssistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Aurélia JacquetteAssistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Didier LacombeCHU de Bordeaux, Service de Génétique Médicale, Centre de Référence Anomalies du développement et syndromes malformatifs, Bordeaux, France.
Alain VerloesDepartment of Genetics, Assistance Publique-Hôpitaux de Paris (AP-HP) - Robert Debré University Hospital, Paris, France.
Christine Bole-FeysotPlateforme Génomique, INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
Patrick NitschkéBioinformatic Platform, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.
Cécile MassonBioinformatic Platform, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.
Anne FaudetAssistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Fabien LesneAssistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Thierry BienvenuInserm, U1016, Institut Cochin, Paris, France.
Caroline AlbyINSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cite and Imagine Institute, 75015 Paris, France.
Tania Attié-BitachINSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cite and Imagine Institute, 75015 Paris, France.
Christel DepienneDépartement de Médicine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400 Illkirch, France.
Caroline NavaAssistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Delphine HéronAssistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Sorbonne Université · FRDélégation Paris 5 · FRCentre National de la Recherche Scientifique · FRAssistance Publique – Hôpitaux de Paris · FRUniversité de Bordeaux · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
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Indexed as
Corpus CallosumAbnormalities, MultipleAgenesis of Corpus CallosumDNA-Binding ProteinsHumansIntellectual DisabilityMutationDNA-Binding Proteins
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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.