- A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.Cell. 1995; 80: 795-803
- Drug-induced prolongation of the QT interval.N Engl J Med. 2004; 350: 1013-1022
- An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome.Circulation. 2020; 141: 418-428
- Common variants at ten loci modulate the QT interval duration in the QTSCD Study.Nat Genet. 2009; 41: 407-414
- Common variants at ten loci influence QT interval duration in the QTGEN Study.Nat Genet. 2009; 41: 399-406
- From variant to function in human disease genetics.Science. 2021; 373: 1464-1468
- Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing.Heart Rhythm. 2014; 11: 1707-1713
- Ubiquitin ligases: structure, function, and regulation.Annu Rev Biochem. 2017; 86: 129-157
- RING finger protein RNF207, a novel regulator of cardiac excitation.J Biol Chem. 2014; 289: 33730-33740
- Disruption of protein quality control of human ether-a-go-go related gene K+ channel results in profound long QT syndrome.Heart Rhythm. 2021; (XX:XX–XX. pii: S1547-5271(21)02221-9)
- High-throughput phenotyping of heteromeric human ether-a-go-go-related gene potassium channel variants can discriminate pathogenic from rare benign variants.Heart Rhythm. 2020; 17: 492-500
- The Atlas of Variant Effects (AVE) Alliance: understanding genetic variation at nucleotide resolution.https://zenodo.org/record/4989960Date accessed: November 2, 2021
Publication stageIn Press Journal Pre-Proof
Funding sources: Dr Vandenberg was supported by the National Health and Medical Research Council (App1116948) and an NSW Cardiovascular Disease Senior Scientist Grant.
Disclosures: The authors have no conflicts of interest to disclose.