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Article

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.

Neonatology - 1 Jan 2021

Scholz Tasja, Blohm Martin Ernst, Kortüm Fanny, Bierhals Tatjana, Lessel Davor, van der Ven Amelie T, Lisfeld Jasmin, Herget Theresia, Kloth Katja, Singer Dominique, Perez Anna, Obi Nadia, Johannsen Jessika, Denecke Jonas, Santer René, Kubisch Christian, Deindl Philipp, Hempel Maja

Abstract excerpt

INTRODUCTION: Monogenic diseases play an important role in critically ill neonates and infants treated in the intensive care unit. This study aimed to determine the diagnostic yield of whole-exome sequencing (WES) for monogenic diseases and identify phenotypes more likely associated with a genetic etiology. METHODS: From March 2017 to 2020, a comprehensive diagnostic workup including WES in a single academic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34237744
DOI: 10.1159/000516890

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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