De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly
Allington G, Mehta N, Dennis E, Mekbib K, Reeves B, Kiziltug E, Chen S, Zhao S, Duy P, Saleh M, Ang L, Fan B, Nelson-Williams C, Moreno-de-Luca A, Haider S, Lifton R, Alper S, McGee S, Jin S, Kahle K. De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly. Brain 2024, awae395. PMID: 39680505, DOI: 10.1093/brain/awae395.Peer-Reviewed Original ResearchLIM interaction domainNeurodevelopmental disorder genesLIM homeodomain proteinsDe novo variantsIntegrative multiomic analysisRegulated assemblyTranscriptional regulationTranscriptional networksDisorder genesInteraction domainTranscriptional modulationTranscriptional programsMultiomics analysisLdb1Brain morphogenesisSignificant enrichmentDysmorphic featuresSignificance thresholdGenesCerebral ventriculomegalySMARCC1ARID1BCongenital hydrocephalusVariantsDevelopmental delay