Associated Papers
The prevalence of pathogenic variants in medically actionable genes among individuals with idiopathic hypogonadotropic hypogonadism/Kallmann syndrome.
Kwal JM et al.
Journal of Assisted Reproduction and Genetics, 2025
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf
High-Throughput Reclassification of SCN5A Variants.
Glazer AM et al.
American Journal of Human Genetics, 2020
Genomic and molecular characterization of esophageal squamous cell carcinoma.
Lin DC et al.
Nature Genetics, 2014
24686850 (PubMed )
Supplement: NIHMS573166-supplement-9.xlsx › Supplementary_Table_11
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010
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