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Article

Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort

26 Sept 2024

Abstract excerpt

PURPOSE: The genetic underpinning of neurodevelopmental disorders (NDDs) in diverse ethnic populations, especially those with high rates of consanguinity, remains largely unexplored. Here, we aim to elucidate genomic insight from 576 well-phenotyped and highly consanguineous (16%) NDD cohort. METHODS: We used chromosomal microarray (CMA; N:247), exome sequencing (ES; N:127), combined CMA and ES (N:202), and...

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PMID: 39342494
DOI: 10.1016/j.gim.2024.101282

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