Article

Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

2019-03-26

Abstract excerpt

<h4>Background</h4> Deciphering the monogenetic causes of neurodevelopmental disorders (NDD) is an important milestone to offer personalized care. But the plausibility of reported candidate genes in exome studies often remains unclear, which slows down progress in the field. <h4>Methods</h4> We performed exome sequencing (ES) in 198 cases of NDD. Cases that remained unresolved (n=135) were re-investigated in a r...

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Literature Corpus work: 4c1080f1-8e23-55e8-976c-c0ef4672e754
DOI: 10.1101/588517

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