Article

Gene discovery for Mendelian conditions via social networking: <i>de novo</i> variants in <i>KDM1A</i> cause developmental delay and distinctive facial features

2015-10-03

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose: </h4> The pace of Mendelian gene discovery is slowed by the “n-of-1 problem” – the difficulty of establishing causality of a putatively pathogenic variant in a single person or family. Identification of an unrelated person with an overlapping phenotype and suspected pathogenic variant in the same gene can overcome this barrier but is often impeded by lack of a convenient or widely-a...

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Literature Corpus work: c85d827e-d094-5a6c-a157-9bf2b14fd9d6
DOI: 10.1101/028241

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