Disease: Hypertrichosis- hyperkeratosis- mental retardation- and distinctive facial features
- <em>Arid1b</em> haploinsufficiency in pyramidal neurons causes cellular and circuit changes in neocortex but is not sufficient to produce behavioral or seizure phenotypes
- <em>SMARCA4</em>: Implications of an Altered Chromatin-Remodeling Gene for Cancer Development and Therapy
- "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma"
- A Case Series of Familial <em>ARID1B</em> Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
- 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
- A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndrome
- A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome
- Abnormal chromatin remodeling caused by ARID1A deletion leads to malformation of the dentate gyrus
- Acetate supplementation restores cognitive deficits caused by ARID1A haploinsufficiency in excitatory neurons
- Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome
- 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 Clinical Description of Two Cases
- 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
- CHARGE syndrome and related disorders: a mechanistic link
- Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome
- Clinical features and genetic analysis of two Chinese patients with Coffin Siris syndrome-1
- Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome
- 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 in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4
- 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
- Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases
- Consolidation of the clinical and genetic definition of a <em>SOX4-</em>related neurodevelopmental syndrome
- De Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and Endocrinopathy
- 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
- Diagnosis a fetus with Coffin-Siris syndrome due to variant of SMARCA4 gene by whole exome sequencing
- Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
- 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
- Epilepsy features in ARID1B-related Coffin-Siris syndrome
- Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature
- Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene
- Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia
- Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature
- Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot
- Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes
- 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
- Frameshift Variant in ARID2 in a Chilean Individual with Coffin-Siris Syndrome Phenotype
- Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients
- Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene
- Genetic and Genomic Analyses of <em>Drosophila melanogaster</em> Models of Chromatin Modification Disorders
- 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
- Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome
- High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
- Identification and functional analysis of novel <em>SOX11</em> variants in Chinese patients with Coffin-Siris syndrome 9
- Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9
- Identification of a novel BICRA variant leading to the newly described Coffin-Siris syndrome 12
- 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
- Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing
- Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders
- 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
- Language Impairments in Individuals With Coffin-Siris Syndrome
- Late-onset hypertension in a child with growth retardation: Answers
- Magnetically Controlled Growing Rods for Early Scoliosis Treatment in Coffin-Siris Syndrome: Case Report and Literature Review
- Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report
- Nail dysplasia and digital hypoplasia - Coffin-Siris syndrome
- Neurocognitive, behavioral and socio-adaptive functioning assessment in a case of Coffin-Siris syndrome: A holistic approach/perspective beyond the identification of the disorder
- Neurodevelopmental disorders: 2022 update
- Next-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathy
- Non-occlusive mesenteric ischemia in a toddler with 6q25 microdeletion syndrome
- Novel Variants of <em>SOX4</em> in Patients with Intellectual Disability
- Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients
- Occurrence of sotos syndrome and coffin-siris syndrome in a family
- On the Interaction Between SMARCAL1 and BRG1
- 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
- Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea
- Pigmentation abnormalities in Coffin-Siris syndrome
- Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review
- Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease
- Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features?
- Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A
- 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 Carcamo 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
- Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies
- Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants
- Short Report: 10-year follow-up of a boy with ARID1B-related disorder. Early intervention, longitudinal dimensional phenotype, brain imaging and outcome
- Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report
- Three Novel <em>ARID1B</em> Variations in Coffin-Siris Syndrome Patients
- Three Novel ARID1B Variations in Coffin-Siris Syndrome Patients
- Treatment of psychiatric comorbidities and interaction patterns in Coffin-Siris syndrome: A case report of a 4-year-old girl
- Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing loss