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Article

Rapid Targeted Genomics in Critically Ill Newborns.

Pediatrics - 1 Oct 2017

van Diemen Cleo C, Kerstjens-Frederikse Wilhelmina S, Bergman Klasien A, de Koning Tom J, Sikkema-Raddatz Birgit, van der Velde Joeri K, Abbott Kristin M, Herkert Johanna C, Löhner Katharina, Rump Patrick, Meems-Veldhuis Martine T, Neerincx Pieter B T, Jongbloed Jan D H, van Ravenswaaij-Arts Conny M, Swertz Morris A, Sinke Richard J, van Langen Irene M, Wijmenga Cisca

Abstract excerpt

BACKGROUND: Rapid diagnostic whole-genome sequencing has been explored in critically ill newborns, hoping to improve their clinical care and replace time-consuming and/or invasive diagnostic testing. A previous retrospective study in a research setting showed promising results with diagnoses in 57%, but patients were highly selected for known and likely Mendelian disorders. The aim of our prospective study was to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28939701
DOI: 10.1542/peds.2016-2854

Genes

EPG5
GFER
GLB1
KLHL41
RMND1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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