Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

doi:10.1038/gim.2017.128

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Article

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2018

Pena Loren D M, Jiang Yong-Hui, Schoch Kelly, Spillmann Rebecca C, Walley Nicole, Stong Nicholas, Rapisardo Horn Sarah, Sullivan Jennifer A, McConkie-Rosell Allyn, Kansagra Sujay, Smith Edward C, El-Dairi Mays, Bellet Jane, Keels Martha Ann, Jasien Joan, Kranz Peter G, Noel Richard, Nagaraj Shashi K, Lark Robert K, Wechsler Daniel S G, Del Gaudio Daniela, Leung Marco L, Hendon Laura G, Parker Collette C, Jones Kelly L, Goldstein David B, Shashi Vandana

Abstract excerpt

PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing...

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PMID: 28914269
DOI: 10.1038/gim.2017.128
PMCID: PMC5851806

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ANTXR2

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

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