Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing
Stefan Rentas, Komal S. Rathi, Maninder Kaur, Pichai Raman, Ian D. Krantz, Mahdi Sarmady, Ahmad Abou Tayoun
Topics & Concepts
Exome sequencingCornelia de Lange SyndromeGenetic testingTranscriptomeGeneticsBiologyNeurodevelopmental disorderGeneExomeAlternative splicingBioinformaticsMedicineExonGene expressionMutationGenomics and Chromatin DynamicsGenetic Syndromes and ImprintingEpigenetics and DNA Methylation