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Article

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

PloS one - 1 Jan 2018

Córdoba Marta, Rodriguez-Quiroga Sergio Alejandro, Vega Patricia Analía, Salinas Valeria, Perez-Maturo Josefina, Amartino Hernán, Vásquez-Dusefante Cecilia, Medina Nancy, González-Morón Dolores, Kauffman Marcelo Andrés

Abstract excerpt

BACKGROUND: Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called "diagnostic odysseys". Previous studies have provided strong evidence for increased diagnostic and clinical utility of whole-exome sequencing in medical genetics. However, specific reports assessing its utility in a setting such as ours- a...

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PMID: 29389947
DOI: 10.1371/journal.pone.0191228
PMCID: PMC5794057

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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