Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

CONCLUSIONS: Patients with identified variants are enriched for multiple organ system involvement. Furthermore, our phenotyping provides broad insights into which patients are most likely to benefit from genetics referral and CES and how those results can help guide clinical practice more generally.
PMID: 31618753 [PubMed - as supplied by publisher]

Source: Pediatric Research - October 15, 2019 Category: Pediatrics Authors: Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, Bielas S, Harris NL, Ogle JD, Innis JW, Martin DM Tags: Pediatr Res Source Type: research