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Article

Diagnostic value of partial exome sequencing in developmental disorders.

PloS one - 1 Jan 2018

Gieldon Laura, Mackenroth Luisa, Kahlert Anne-Karin, Lemke Johannes R, Porrmann Joseph, Schallner Jens, von der Hagen Maja, Markus Susanne, Weidensee Sabine, Novotna Barbara, Soerensen Charlotte, Klink Barbara, Wagner Johannes, Tzschach Andreas, Jahn Arne, Kuhlee Franziska, Hackmann Karl, Schrock Evelin, Di Donato Nataliya, Rump Andreas

Abstract excerpt

Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a partial exome, enriched for genes associated with Mendelian disorders, might be a valid alternative approach that yields similar detection rates but requires less...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 30091983
DOI: 10.1371/journal.pone.0201041
PMCID: PMC6084857

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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