Associated Papers
Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2, and SCN5A Compared With Patch-Clamp Functional Characterization.
Ye D et al.
Circulation. Genomic and Precision Medicine, 2024
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
Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors.
Bennett JS et al.
Pediatric Cardiology, 2019
The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.
Wu G et al.
Nature Genetics, 2014
24705251 (PubMed )
Supplement: NIHMS573627-supplement-2.xlsx › ST5
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
23631430 (PubMed )
Supplement: sj-doc-1-gtm-10.1089_gtmb.2012.0118.doc
Sudden cardiac death with autopsy findings of uncertain significance: potential for erroneous interpretation.
Papadakis M et al.
Circulation. Arrhythmia and Electrophysiology, 2013
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
High-density substrate mapping in Brugada syndrome: combined role of conduction and repolarization heterogeneities in arrhythmogenesis.
Lambiase PD et al.
Circulation, 2009
Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families.
Behr ER et al.
European Heart Journal, 2008
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