Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context

Abstract This study aims to inform future genetic reanalysis management by evaluating the yield of whole-exome sequencing (WES) reanalysis in standard patient care in the Netherlands. Single-center data of 159 patients with a neurodevelopmental disorder (NDD), in which WES analysis and reanalysis we...

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Bibliographic Details
Main Authors: Michelle van Slobbe, Arie van Haeringen, Lisenka E.L.M. Vissers, Emilia K. Bijlsma, Julie W. Rutten, Manon Suerink, Esther Nibbeling, Claudia Ruivenkamp, Saskia Koene
Format: Artigo
Language:English
Published: 2023
Online Access:https://doi.org/10.1007/s00431-023-05279-4
https://link.springer.com/content/pdf/10.1007/s00431-023-05279-4.pdf
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