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Published in 2021 at "Expert review of molecular diagnostics"
DOI: 10.1080/14737159.2021.1985467
Abstract: INTRODUCTION Meningoencephalitis patients are often severely impaired and benefit from early etiological diagnosis though many cases remain without identified cause. Metagenomics as pathogen agnostic approach can result in additional etiological findings, however the exact diagnostic…
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Keywords:
metagenomic sequencing;
sequencing diagnosis;
diagnostic yield;
meningoencephalitis ... See more keywords
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Published in 2021 at "Neurology"
DOI: 10.1212/wnl.0000000000012265
Abstract: Malformations of cortical development represent an important cause of developmental disability and neurologic morbidity and mortality.1 Advances in genetic methodology, particularly the widespread implementation of next-generation DNA sequencing technology (e.g., multigene panels and whole exome…
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Keywords:
sequencing diagnosis;
diagnosis lissencephaly;
child neurology;
rna sequencing ... See more keywords