Associated Papers
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
40332002 (PubMed )
Supplement: ijms-26-03509-s001.zip › Table_S1._Medically_ACMG_actionable_findings_and_carrier_status_identified_in_our_study.xlsx › Allele_frequencies
Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies.
O'Neill MJ et al.
Circulation. Genomic and Precision Medicine, 2022
Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome.
Grassi S et al.
International Journal of Molecular Sciences, 2022
Cerebral Seizures in an Adolescent with Jervell and Lange-Nielsen Syndrome: It May Not Be Epilepsy.
Levaux J et al.
Clinics and Practice, 2022
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
34923710 (PubMed )
Supplement: HUMU-43-1114-s002.xlsx › Supplemental_Table_1
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.
Lacaze P et al.
Npj Genomic Medicine, 2021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S10
Reclassification of genetic variants in children with long QT syndrome.
Westphal DS et al.
Molecular Genetics & Genomic Medicine, 2020
32383558 (PubMed )
Supplement: MGG3-8-e1300-s001.xlsx › Supplement_Tabelle
The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.
Huttunen H et al.
Frontiers in Endocrinology, 2018
Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.
Al-Hassnan ZN et al.
Heart Rhythm, 2017
Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome.
Wang C et al.
Acta Oto-laryngologica, 2017
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
23631430 (PubMed )
Supplement: sj-doc-1-gtm-10.1089_gtmb.2012.0118.doc
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
Moss AJ et al.
Circulation, 2007
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