KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.

doi:10.1161/CIRCGEN.120.003133

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KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.

Circulation. Genomic and precision medicine - 1 Dec 2020

Streeten Elizabeth A, See Vincent Y, Jeng Linda B J, Maloney Kristin A, Lynch Megan, Glazer Andrew M, Yang Tao, Roden Dan, Pollin Toni I, Daue Melanie, Ryan Kathleen A, Van Hout Cristopher, Gosalia Nehal, Gonzaga-Jauregui Claudia, Economides Aris, Perry James A, O'Connell Jeffrey, Beitelshees Amber, Palmer Kathleen, Mitchell Braxton D, Shuldiner Alan R

Abstract excerpt

BACKGROUND: In population-based research exome sequencing, the path from variant discovery to return of results is not well established. Variants discovered by research exome sequencing have the potential to improve population health. METHODS: Population-based exome sequencing and agnostic ExWAS were performed 5521 Amish individuals. Additional phenotyping and in vitro studies enabled reclassification of a KCNQ1...

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PMID: 33141630
DOI: 10.1161/CIRCGEN.120.003133
PMCID: PMC7748050

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KCNQ1

Variants

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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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