Inaugural Article: Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

By I. Splawski. 2005

627 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/8766d0de24cb8d76ff30866e769035a7e4722a0d

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

1. Beryl B. Cummings
2. Konrad J. Karczewski
3. F. Satterstrom
4. M. Singer-Berk
5. J. Kosmicki
6. N. Watts
7. G. Zamponi
8. Anne H. O'Donnell-Luria

Citations in the corpus

• Neuronal voltage-gated calcium channels: structure, function, and dysfunction. (2014, background): “Mutations in the human CACNA1C gene have been linked to Timothy syndrome, a debilitating condition that includes mental retardation, lethal cardiac arrhythmias, various developmental abnormalities, and autism (Splawski et al., 2004, 2005).”
• Transcript expression-aware annotation improves rare variant discovery and interpretation (2019, background): “mRNA rences on the rms of ogenic hereas cts (8).”
• The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential (2015, background): “Typical extracardiac features include dysmorphic facial features, syndactyly, and mental retardation (Marks et al., 1995; Splawski et al., 2005; Gillis et al., 2012).”