Coffin-Siris Syndrome Latest Advances

Find the Latest Research About Coffin-Siris Syndrome

Last Updated: 02/24/2026

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Found 335 publications

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.

Journal: European journal of pediatrics
Published: October 28, 2025

Prenatal Diagnosis of 6q Terminal Deletion Associated with Coffin-Siris Syndrome: Phenotypic Delineation and Review.

Prenatal Diagnosis of 6q Terminal Deletion Associated with Coffin-Siris Syndrome: Phenotypic Delineation and Review.

Journal: Genes
Published: October 16, 2025

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.

Journal: Clinical genetics
Published: October 03, 2025

A Novel Variant of ARID1B-Related Coffin-Siris Syndrome in a Saudi Girl: A Case Report.

A Novel Variant of ARID1B-Related Coffin-Siris Syndrome in a Saudi Girl: A Case Report.

Journal: Cureus
Published: July 22, 2025

Two cases of Coffin-Siris syndrome type 3 caused by de novoSMARCB1 gene mutations

Two cases of Coffin-Siris syndrome type 3 caused by de novoSMARCB1 gene mutations

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: July 22, 2025

A Coffin-Siris syndrome-associated mutation modeled in Caenorhabditis elegans affects multiple developmental processes.

A Coffin-Siris syndrome-associated mutation modeled in Caenorhabditis elegans affects multiple developmental processes.

Journal: G3 (Bethesda, Md.)
Published: July 09, 2025

Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.

Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.

Journal: BMC medical genomics
Published: July 08, 2025

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

Journal: Familial cancer
Published: June 04, 2025

Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome.

Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome.

Journal: Epilepsy & behavior reports
Published: May 13, 2025

Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.

Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.

Journal: Molecular genetics & genomic medicine
Published: April 30, 2025

Optic nerve hypoplasia/dysplasia in Coffin-Siris syndrome: a case series.

Optic nerve hypoplasia/dysplasia in Coffin-Siris syndrome: a case series.

Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: April 06, 2025

ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape.

ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape.

Journal: European journal of medical genetics
Published: April 01, 2025
Showing 1-12 of 335

Last Updated: 02/24/2026