Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay

Author:

Thomson Kate L.,Jiang Connie,Richardson Ebony,Westphal Dominik S.,Burkard Tobias,Wolf Cordula M.,Vatta Matteo,Harrison Steven M.,Ingles Jodie,Bezzina Connie R.,Kroncke Brett M.,Vandenberg Jamie I.ORCID,Ng Chai-Ann

Funder

NHMRC

NSW Health

Publisher

Elsevier BV

Reference19 articles.

1. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases;Wilde;Europace,2022

2. ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG);Miller;Genet. Med.,2022

3. A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome;Jiang;Am. J. Hum. Genet.,2022

4. An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome;Adler;Circulation,2020

5. A Massively Parallel Trafficking Assay Accurately Predicts Loss of Channel Function in KCNH2 Variants;Ng;bioRxiv,2021

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