Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis.

Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis.

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 de...

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Main Authors: Lucilla Pizzo, Micaela Lasser, Tanzeen Yusuff, Matthew Jensen, Phoebe Ingraham, Emily Huber, Mayanglambam Dhruba Singh, Connor Monahan, Janani Iyer, Inshya Desai, Siddharth Karthikeyan, Dagny J Gould, Sneha Yennawar, Alexis T Weiner, Vijay Kumar Pounraja, Arjun Krishnan, Melissa M Rolls, Laura Anne Lowery, Santhosh Girirajan
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2021-04-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1009112

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