Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. lae...
Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis
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Author / Creator
Pizzo, Lucilla , Lasser, Micaela , Yusuff, Tanzeen , Jensen, Matthew , Ingraham, Phoebe , Huber, Emily , Singh, Mayanglambam Dhruba , Monahan, Connor , Iyer, Janani , Desai, Inshya , Karthikeyan, Siddharth , Gould, Dagny J. , Yennawar, Sneha , Weiner, Alexis T. , Pounraja, Vijay Kumar , Krishnan, Arjun , Rolls, Melissa M. , Lowery, Laura Anne and Girirajan, Santhosh
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publication information
Publisher
United States: Public Library of Science
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Scope and Contents
Contents
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 “s...
Alternative Titles
Full title
Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis
Authors, Artists and Contributors
Author / Creator
Lasser, Micaela
Yusuff, Tanzeen
Jensen, Matthew
Ingraham, Phoebe
Huber, Emily
Singh, Mayanglambam Dhruba
Monahan, Connor
Iyer, Janani
Desai, Inshya
Karthikeyan, Siddharth
Gould, Dagny J.
Yennawar, Sneha
Weiner, Alexis T.
Pounraja, Vijay Kumar
Krishnan, Arjun
Rolls, Melissa M.
Lowery, Laura Anne
Girirajan, Santhosh
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_2528224876
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2528224876
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1009112
