Olivier Quenez
0000-0002-8273-8505
6 papers found
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Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome
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