Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 10/31/2025

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 328 publications

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 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

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

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

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

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

Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin-Siris syndrome 9 (CSS9) and literature review.

Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin-Siris syndrome 9 (CSS9) and literature review.

Journal: Frontiers in pediatrics
Published: April 01, 2025

Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.

Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.

Journal: Cancer genetics
Published: February 27, 2025

Inflammatory arthritis as an atypical manifestation of Coffin-Siris syndrome linked to a novel ARID1B variant.

Inflammatory arthritis as an atypical manifestation of Coffin-Siris syndrome linked to a novel ARID1B variant.

Journal: Clinical and experimental rheumatology
Published: February 03, 2025

A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.

A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.

Journal: Acta biochimica et biophysica Sinica
Published: November 20, 2024

Bilateral Macular Dysplasia in Coffin-Siris Syndrome.

Bilateral Macular Dysplasia in Coffin-Siris Syndrome.

Journal: Retinal cases & brief reports
Published: November 12, 2024

Identification of variants in SWI/SNF complex genes associated with neurodevelopmental disorders.

Identification of variants in SWI/SNF complex genes associated with neurodevelopmental disorders.

Journal: Frontiers in genetics
Published: October 15, 2024
Showing 1-12 of 328

Last Updated: 10/31/2025