Associated Papers
ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants.
O'Neill MJ et al.
Nature Communications, 2024
ParSE-seq: A Calibrated Multiplexed Assay to Facilitate the Clinical Classification of Putative Splice-altering Variants.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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 › S3
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
30143662 (PubMed )
Supplement: 41598_2018_30577_MOESM1_ESM.pdf
Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization.
Watanabe H et al.
Circulation. Arrhythmia and Electrophysiology, 2011
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