Article
Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.
European journal of medical genetics - 1 Jul 2023
Baalmann Nadja, Spielmann Malte, Gillessen-Kaesbach Gabriele, Hanker Britta, Schmidt Julia, Lill Christina M, Hellenbroich Yorck, Greiten Bianca, Lohmann Katja, Trinh Joanne, Hüning Irina
Abstract excerpt
In this study, we aimed to examine the diagnostic yield achieved by applying a trio approach in exome sequencing (ES) and the interdependency between the clinical specificity in families with neurodevelopmental delay. Thirty-seven families were recruited and trio-ES as well as three criteria for estimating the clinical phenotypic specificity were suggested and applied to the underaged children. All our patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.