Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing-Reference-Cited by-同舟云学术

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Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

Published:2024-07 Issue:3 Volume:142 Page:108511
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Morales-Romero Blai,Muñoz-Pujol Gerard,Artuch Rafael,García-Cazorla Angels,O'Callaghan Mar,Sykut-Cegielska Jolanta,Campistol Jaume,Moreno-Lozano Pedro Juan,Oud Machteld M.,Wevers Ron A.,Lefeber Dirk J.,Esteve-Codina Anna,Yepez Vicente A.,Gagneur Julien,Wortmann Saskia B.,Prokisch Holger,Ribes Antonia,García-Villoria Judit,Tort Frederic

Publisher

Elsevier BV

Reference50 articles.

1. Clinical application of whole-exome sequencing across clinical indications;Retterer;Genet. Med.,2016

2. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases;Clark;NPJ Genom. Med.,2018

3. How to proceed after “negative” exome: a review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques;Wortmann;J. Inherit. Metab. Dis.,2022

4. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing;Alfares;Genet. Med.,2018

5. Diagnostic yield of whole genome sequencing after nondiagnostic exome sequencing or gene panel in developmental and epileptic encephalopathies;Palmer;Neurology,2021

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