Article

Functional assessment of the “two-hit” model for neurodevelopmental defects in <i>Drosophila</i> and <i>X. laevis</i>

2020-09-14

Abstract excerpt

We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly affected carrier parents. We hypothesized that the 16p12.1 deletion sensitizes the genome for disease, while “second-hits” in the genetic background modulate the phenotypic traje...

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Literature Corpus work: 2eba9017-fe3e-50c2-8948-4c617d5f6bb7
DOI: 10.1101/2020.09.14.295923

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