Article

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes and establishment of LEO1 as a novel disease gene

2024-01-25

Abstract excerpt

<title>Abstract</title> <p>This study aimed to uncover novel genes associated with neurodevelopmental disorders (NDD) by leveraging recent large-scale <italic>de novo</italic> burden analysis studies to enhance a virtual gene panel used in a diagnostic setting. We re-analyzed historical trio-exome sequencing data from 745 individuals with NDD according to the most recent diagnostic standards, resulting in a cohor...

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Literature Corpus work: 50a64b16-3e15-5382-b80b-86b16645fd30
DOI: 10.21203/rs.3.rs-3872916/v1

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