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Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction.
Leone MP, Palumbo P, Saenen J, Mastroianno S, Castellana S, Amico C, Mazza T, Potenza DR, Petracca A, Castori M, Carella M, Di Stolfo G. Leone MP, et al. Front Cardiovasc Med. 2021 May 20;8:635141. doi: 10.3389/fcvm.2021.635141. eCollection 2021. Front Cardiovasc Med. 2021. PMID: 34095246 Free PMC article.
Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy.
Mastroianno S, Palumbo P, Castellana S, Leone MP, Massaro R, Potenza DR, Mazza T, Russo A, Castori M, Carella M, Di Stolfo G. Mastroianno S, et al. Among authors: leone mp. Ann Noninvasive Electrocardiol. 2020 May;25(3):e12687. doi: 10.1111/anec.12687. Epub 2019 Sep 16. Ann Noninvasive Electrocardiol. 2020. PMID: 31524317 Free PMC article.
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