Article

Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays

2024-09-15

Abstract excerpt

<h4>Purpose</h4> To functionally evaluate novel human sequence-derived candidate genes and variants for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). <h4>Methods</h4> Through exome and genome sequencing of a genetically unsolved human oCCDD cohort, we previously identified variants in 80 strong candidate genes. Here, we further prioritized a subset of these (43 human genes, 57 zebrafish g...

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Literature Corpus work: 3022f74f-bdc4-5a12-80e3-acb491f96ae1
DOI: 10.1101/2024.09.12.612713

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