Article

Quantification of autism recurrence risk by direct assessment of paternal sperm mosaicism

2017-10-24

Abstract excerpt

<h4>Summary</h4> De novo genetic mutations represent a major contributor to pediatric disease, including autism spectrum disorders (ASD), congenital heart disease, and muscular dystrophies 1,2 , but there are currently no methods to prevent or predict them. These mutations are classically thought to occur either at low levels in progenitor cells or at the time of fertilization 1,3 and are often assigned a low r...

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Literature Corpus work: d10821f4-67da-592c-96c3-066189d0ad68
DOI: 10.1101/208165

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