• A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia
• Baraitser-Winter cerebrofrontofacial syndrome
• Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12
• Clark-Baraitser syndrome: report of a new case and review of the literature
• De Novo <em>ACTG1</em> Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome
• E3 Ubiquitin Ligase TRIP12: Regulation, Structure, and Physiopathological Functions
• Episignature Mapping of <em>TRIP12</em> Provides Functional Insight into Clark-Baraitser Syndrome
• Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome
• Novel Synonymous and Frameshift Variants in the <em>TRIP12</em> Gene Identified in 2 Chinese Patients With Intellectual Disability
• Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
• Prenatal presentation and diagnosis of Baraitser-Winter syndrome using exome sequencing
• Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant
• The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in <em>ACTB</em> Diagnosed Via Targeted Gene Panel Sequencing and Literature Review
• The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
• Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome