Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

While genes with an excess of de novo mutations (DNMs) have been identified in children with neurodevelopmental disorders (NDDs), few studies focus on DNM patterns where the sex of affected children is examined separately. We considered ∼8,825 sequenced parent-child trios (n ∼26,475 individuals) and...

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Gepubliceerd in:Am J Hum Genet
Hoofdauteurs: Turner, Tychele N., Wilfert, Amy B., Bakken, Trygve E., Bernier, Raphael A., Pepper, Micah R., Zhang, Zhancheng, Torene, Rebecca I., Retterer, Kyle, Eichler, Evan E.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2019
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6904808/
https://ncbi.nlm.nih.gov/pubmed/31785789
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.11.003
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