Associated Papers
Application of clinical exome sequencing in sperm donor screening in China.
Huang J et al.
Journal of Assisted Reproduction and Genetics, 2025
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1
Long QT and Hearing Loss in High-Risk Infants Prospective Study Registry.
Fenrich AL et al.
Pediatric Cardiology, 2022
Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Yee LA et al.
Journal of the American Heart Association, 2022
36102233 (PubMed )
Supplement: JAH3-11-e025108-s001.pdf
Hearing loss in Africa: current genetic profile.
Adadey SM et al.
Human Genetics, 2022
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 › S4
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
Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.
Lin Y et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020
Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.
Adadi N et al.
Journal of Medical Case Reports, 2017
Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.
Chang RK et al.
The Journal of Pediatrics, 2014
Select a paper to view details