Associated Papers
Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?
van Deventer BS et al.
Forensic Science, Medicine, and Pathology, 2025
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Common variants in SCN10A gene associated with Brugada syndrome.
Huang Y et al.
Human Molecular Genetics, 2021
Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.
Fonseca DJ et al.
Pharmacogenomics and Personalized Medicine, 2021
Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.
Singh R et al.
Plos One, 2020
Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.
Nettuwakul C et al.
Scientific Reports, 2018
Common Coding Variants in SCN10A Are Associated With the Nav1.8 Late Current and Cardiac Conduction.
Macri V et al.
Circulation. Genomic and Precision Medicine, 2018
Homozygosity for the SCN10A Polymorphism rs6795970 Is Associated With Hypoalgesic Inflammatory Bowel Disease Phenotype.
Gonzalez-Lopez E et al.
Frontiers in Medicine, 2018
NaV channel variants in patients with painful and nonpainful peripheral neuropathy.
Wadhawan S et al.
Neurology. Genetics, 2017
Association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome in Chinese Han population.
Zhang L et al.
International Journal of Legal Medicine, 2017
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.
Behr ER et al.
Cardiovascular Research, 2015
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Witkiewicz AK et al.
Nature Communications, 2015
Common and rare variants in SCN10A modulate the risk of atrial fibrillation.
Jabbari J et al.
Circulation. Cardiovascular Genetics, 2015
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
Friedrich C et al.
Embo Molecular Medicine, 2014
Genetic polymorphisms of SCN10A are associated with functional dyspepsia in Japanese subjects.
Arisawa T et al.
Journal of Gastroenterology, 2013