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Article

Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2026

Saad Ramy, Cobolli Gigli Clementina, van der Sluijs Pleuntje J, Wilson Jon R, Hsieh Tzung-Chien, McConnell Vivienne P M, Bacino Carlos A, Bird Lynne M, Adam Shelin, Clarke Lorne, Cobben Jan M, Travessa André M, Faivre Laurence, Farholt Stense, Gregersen Pernille A, van Hasselt Jos, Lahiri Nayana, Palmer Elizabeth E, Sheffer Ruth, Clayton-Smith Jill, Wilnai Yael, Deshpande Charu, Morton Jenny E V, Clement Emma, Santen Gijs W E, Dias Cristina

Abstract excerpt

PURPOSE: Variants in SMARCB1, encoding a core subunit of the BAF (ie, BRG/BRM-associated factor) chromatin remodeling complex, are associated with intellectual developmental disorders, particularly Coffin-Siris syndrome, although the genotype-phenotype spectrum remains incompletely defined. This study aims to assess the correlations between SMARCB1 variant location and phenotypic manifestations. METHODS: We...

Read the complete abstract on PubMed

Topics

Humans
SMARCB1 Protein
Neck

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Micrognathism

Genetic Association Studies

Female

Intellectual Disability

Abnormalities, Multiple

Hand Deformities, Congenital

Child

Phenotype

Child, Preschool

Face

Male

Genotype

Machine Learning

Microcephaly

Developmental Disabilities

Source

Identifiers

PMID: 42206491
DOI: 10.1016/j.gim.2026.102614

Genes

SMARCB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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