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
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
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome.
Amirian A et al.
Iranian Journal of Basic Medical Sciences, 2018
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
Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.
Amin AS et al.
European Heart Journal, 2012
22199116 (PubMed )
Supplement: supp_ehr473_ehr473supp.doc
KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.
Chen S et al.
Clinical Genetics, 2003
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