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Article

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

European journal of pediatrics - 1 Jan 2024

van Slobbe Michelle, van Haeringen Arie, Vissers Lisenka E L M, Bijlsma Emilia K, Rutten Julie W, Suerink Manon, Nibbeling Esther A R, Ruivenkamp Claudia A L, Koene Saskia

Abstract excerpt

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 were performed between January 1, 2014, and December 31, 2021, was retrospectively collected. Patients were included if they...

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Identifiers

PMID: 37889289
DOI: 10.1007/s00431-023-05279-4
PMCID: PMC10858114

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