• <em>Arid1b</em> haploinsufficiency in pyramidal neurons causes cellular and circuit changes in neocortex but is not sufficient to produce behavioral or seizure phenotypes
• A de novo variant of BICRA results in Coffin-Siris syndrome 12
• A newborn with coffin-siris syndrome
• A novel BICRA variant causing Coffin-Siris Syndrome
• Abnormal chromatin remodeling caused by ARID1A deletion leads to malformation of the dentate gyrus
• Anesthetic management in a child with Coffin Siris syndrome
• ARID1B maintains mesenchymal stem cell quiescence via inhibition of BCL11B-mediated non-canonical Activin signaling
• ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals
• ARID2, a rare cause of Coffin-Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review
• Autism spectrum disorder and Coffin-Siris syndrome-Case report
• Coffin-Siris syndrome and apneas. Comment on "Coffin-Siris syndrome and delayed emergence-Is this an unusual or unknown anesthetic complication? Prabhakar P, Chandran SD, Tembhurne SA, Mathew A, Rai E. Pediatr Anesth. 2024; 00: 1-2. Doi: 10.1111/pan.
• Coffin-Siris syndrome and delayed emergence-Is this an unusual or unknown anesthetic complication?
• Coffin-Siris Syndrome and SMARCB1 Mutation Presenting With Schwannomatosis: A Case Report and Literature Review
• Coffin-Siris syndrome: A case report and dental findings
• Coffin-Siris Syndrome: Case Series of Three Patients and a Novel ARID2 Variant
• Coffin-Siris syndrome: Clinical description of two cases
• De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
• Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals
• Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
• DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
• DPF2-related Coffin-Siris syndrome type 7 in two generations
• Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
• Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature
• Facial analytics based on a coordinate extrapolation system (zFACE) for morphometric phenotyping of developing zebrafish
• First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review
• First-trimester prenatal diagnosis of Coffin-Siris syndrome-related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology
• Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene
• Genetic and genomic analyses of Drosophila melanogaster models of chromatin modification disorders
• Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the <em>ARID1B</em> Gene in a Girl with Coffin-Siris Syndrome
• Identification of a novel de novo mutation in SOX4 for syndromic tooth agenesis
• Identification of a novel phenotype of external ear deformity related to Coffin-Siris syndrome-9 and literature review
• Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome
• Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant
• Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report
• Nail dysplasia and digital hypoplasia - Coffin-Siris syndrome
• Novel Variants of <em>SOX4</em> in Patients with Intellectual Disability
• Occurrence of sotos syndrome and coffin-siris syndrome in a family
• Onychodystrophy with Multiple Epiphyseal Dysplasia: Literature Review
• Oral and dental abnormalities in Coffin Siris syndrome : A new case report
• Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype
• Pigmentation abnormalities in Coffin-Siris syndrome
• Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease
• Protein destabilization underlies pathogenic missense mutations in ARID1B
• Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma" by Cárcamo et al. 2022
• Recurrence of ARID1B -related Coffin-Siris Syndrome by possible gonadal mosaicism
• Recurrence of ARID1B-related Coffin-Siris Syndrome by possible gonadal mosaicism
• SEM-2/SoxC regulates multiple aspects of <em>C. elegans</em> postembryonic mesoderm development
• Short Report: 10-year follow-up of a boy with ARID1B-related disorder. Early intervention, longitudinal dimensional phenotype, brain imaging and outcome
• The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
• Treatment of psychiatric comorbidities and interaction patterns in Coffin-Siris syndrome: A case report of a 4-year-old girl