Coffin-Siris Syndrome Latest Advances

Defining the molecular tolerance-to-damage landscape of SMARCA4 helicase genetic alterations.

Journal: bioRxiv : the preprint server for biology

Published: July 03, 2026

Case Report: novel mutations in SMARCA4 cause Coffin-Siris syndrome type 4 with autism spectrum disorder without visual impairment in one patient.

Journal: Frontiers in genetics

Published: July 01, 2026

Clinical characteristics and genetic analysis of a child with Coffin-Siris syndrome type 8 due to an intronic variant of SMARCC2 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: May 06, 2026

Arid1b haploinsufficiency in excitatory neurons alters neocortical circuits but not social behavior or seizure phenotypes.

Journal: Experimental neurology

Published: April 22, 2026

A case of Berry syndrome associated with SOX11-related Coffin-Siris syndrome type 9

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: April 22, 2026

Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association.

Journal: Ophthalmic genetics

Published: March 30, 2026

Double Lacrimal Puncta in a Case of Coffin-Siris Syndrome.

Journal: Ophthalmic plastic and reconstructive surgery

Published: February 19, 2026

A multi-omics approach to characterize a deep intronic ARID1A deletion in Coffin-Siris syndrome.

Journal: European journal of medical genetics

Published: February 06, 2026

Impaired IFN-γ-mediated innate and adaptive immunity in Coffin-Siris syndrome type 2: immunological insights from a patient with a recurrent ARID1A mutation.

Journal: Frontiers in immunology

Published: February 04, 2026

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

Journal: European journal of pediatrics

Published: January 14, 2026

A novel variant in ARID2 causes Coffin-Siris syndrome 6 with liver cirrhosis.

Journal: Gene

Published: January 13, 2026

Identification of the Genomic Etiology of Unexplained Congenital Problems in Pediatric Patients: First Reported Case With Coffin-Siris Syndrome and Sialuria From India.

Journal: Clinical case reports

Published: January 08, 2026

Coffin-Siris Syndrome Latest Advances

Find the Latest Research About Coffin-Siris Syndrome

Defining the molecular tolerance-to-damage landscape of SMARCA4 helicase genetic alterations.

Defining the molecular tolerance-to-damage landscape of SMARCA4 helicase genetic alterations.

Case Report: novel mutations in SMARCA4 cause Coffin-Siris syndrome type 4 with autism spectrum disorder without visual impairment in one patient.

Case Report: novel mutations in SMARCA4 cause Coffin-Siris syndrome type 4 with autism spectrum disorder without visual impairment in one patient.

Clinical characteristics and genetic analysis of a child with Coffin-Siris syndrome type 8 due to an intronic variant of SMARCC2 gene

Clinical characteristics and genetic analysis of a child with Coffin-Siris syndrome type 8 due to an intronic variant of SMARCC2 gene

Arid1b haploinsufficiency in excitatory neurons alters neocortical circuits but not social behavior or seizure phenotypes.

Arid1b haploinsufficiency in excitatory neurons alters neocortical circuits but not social behavior or seizure phenotypes.

A case of Berry syndrome associated with SOX11-related Coffin-Siris syndrome type 9

A case of Berry syndrome associated with SOX11-related Coffin-Siris syndrome type 9

Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association.

Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association.

Double Lacrimal Puncta in a Case of Coffin-Siris Syndrome.

Double Lacrimal Puncta in a Case of Coffin-Siris Syndrome.

A multi-omics approach to characterize a deep intronic ARID1A deletion in Coffin-Siris syndrome.

A multi-omics approach to characterize a deep intronic ARID1A deletion in Coffin-Siris syndrome.

Impaired IFN-γ-mediated innate and adaptive immunity in Coffin-Siris syndrome type 2: immunological insights from a patient with a recurrent ARID1A mutation.

Impaired IFN-γ-mediated innate and adaptive immunity in Coffin-Siris syndrome type 2: immunological insights from a patient with a recurrent ARID1A mutation.

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

A novel variant in ARID2 causes Coffin-Siris syndrome 6 with liver cirrhosis.

A novel variant in ARID2 causes Coffin-Siris syndrome 6 with liver cirrhosis.

Identification of the Genomic Etiology of Unexplained Congenital Problems in Pediatric Patients: First Reported Case With Coffin-Siris Syndrome and Sialuria From India.

Identification of the Genomic Etiology of Unexplained Congenital Problems in Pediatric Patients: First Reported Case With Coffin-Siris Syndrome and Sialuria From India.