Associated Papers
Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.
Almomani R et al.
International Journal of Molecular Sciences, 2023
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.
Fierheller CT et al.
Genes, 2023
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
Sarquella-Brugada G et al.
Human Genetics, 2022
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
Ratnapriya R et al.
Human Molecular Genetics, 2020
Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.
Eijkenboom I et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.
Patowary A et al.
Translational Psychiatry, 2019
30664616 (PubMed )
Supplement: 41398_2018_343_MOESM3_ESM.xlsx › All_Variants
Deep sequencing analysis to identify novel and rare variants in pain-related genes in patients with acute postoperative pain and high morphine use.
Loke MF et al.
Journal of Pain Research, 2019
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.
Kambouris M et al.
Annals of Clinical and Translational Neurology, 2017
Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.
Te Riele AS et al.
Journal of Cardiovascular Translational Research, 2016
Select a paper to view details