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American Journal of Human Genetics|October 10, 2002
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathyAlessandra Rampazzo, Andrea Nava, Sandro Malacrida, et al.
American Journal of Human Genetics|March 15, 2006
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigreesValerio Carelli, Alessandro Achilli, Maria Lucia Valentino, et al.
The Oncologist|November 17, 2025
Machine learning identifies a distinct microbiota signature in immune checkpoint inhibitor colitis compared with inflammatory bowel diseaseBrigida Barberio, Ilaria Patuzzi, Luisa Bertin, et al.
Heart Rhythm|November 20, 2018
A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in patients with arrhythmogenic cardiomyopathyGiulia Poloni, Martina Calore, Ilaria Rigato, et al.
Communications Biology|October 2, 2018
Genomic analysis of <i>Sparus aurata</i> reveals the evolutionary dynamics of sex-biased genes in a sequential hermaphrodite fishMarianna Pauletto, Tereza Manousaki, Serena Ferraresso, et al.
Epilepsia|September 27, 2003
Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European familiesRoberto Michelucci, Juan Jose Poza, Vito Sofia, et al.
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