Disease: Coffin-Siris syndrome
- A de novo variant of BICRA results in Coffin-Siris syndrome 12
- A newborn with 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
- 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 delayed emergence-Is this an unusual or unknown anesthetic complication?
- Coffin-Siris Syndrome: Case Series of Three Patients and a Novel ARID2 Variant
- Coffin-Siris syndrome: Clinical description of two cases
- 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
- 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
- Facial analytics based on a coordinate extrapolation system (zFACE) for morphometric phenotyping of developing zebrafish
- 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
- 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
- Treatment of psychiatric comorbidities and interaction patterns in Coffin-Siris syndrome: A case report of a 4-year-old girl