Carmela Fusco

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 18

Top Topics

Hypertrophic Cardiomyopathy

Endothelial Cells

Top Venues

American journal of medical genetics. Part A

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Vera Uliana, Enrico Ambrosini, Antonietta Taiani, Sofia Cesarini, Ilenia Rita Cannizzaro, Anna Negrotti, Walter Serra, Gabriele Quintavalle, Lucia Micale, Carmela Fusco, Marco Castori, Davide Martorana, Beatrice Bortesi, Laura Belli, Antonio Percesepe, Francesco Pisani, Valeria Barili
Phenotypic Expansion of Autosomal Dominant LZTR1 -Related Disorders with Special Emphasis on Adult-Onset Features. Genes 15 (7) (2024)
Vera Uliana, Enrico Ambrosini, Antonietta Taiani, Sofia Cesarini, Ilenia Rita Cannizzaro, Anna Negrotti, Walter Serra, Gabriele Quintavalle, Lucia Micale, Carmela Fusco, Marco Castori, Davide Martorana, Beatrice Bortesi, Laura Belli, Antonio Percesepe, Francesco Pisani, Valeria Barili
Phenotypic Expansion of Autosomal Dominant LZTR1 -Related Disorders with Special Emphasis on Adult-Onset Features. Genes 15 (7) (2024)
Vera Uliana, Enrico Ambrosini, Antonietta Taiani, Sofia Cesarini, Ilenia Rita Cannizzaro, Anna Negrotti, Walter Serra, Gabriele Quintavalle, Lucia Micale, Carmela Fusco, Marco Castori, Davide Martorana, Beatrice Bortesi, Laura Belli, Antonio Percesepe, Francesco Pisani, Valeria Barili
Phenotypic Expansion of Autosomal Dominant LZTR1 -Related Disorders with Special Emphasis on Adult-Onset Features. Genes 15 (7) (2024)
Giuseppe Di Stolfo, Antonio Petracca, Ester Maria Lucia Bevere, Riccardo Pracella, Domenico Rosario Potenza, Carmela Fusco, Sandra Mastroianno, Marco Castori
Biallelic LZTR1 variants in a 49-year-old woman with hypertrophic cardiomyopathy: A clue for considering LZTR1 in adults. American journal of medical genetics. Part A 194 (5) (2023)
Giuseppe Di Stolfo, Antonio Petracca, Ester Maria Lucia Bevere, Riccardo Pracella, Domenico Rosario Potenza, Carmela Fusco, Sandra Mastroianno, Marco Castori
Biallelic LZTR1 variants in a 49-year-old woman with hypertrophic cardiomyopathy: A clue for considering LZTR1 in adults. American journal of medical genetics. Part A 194 (5) (2023)
Giuseppe Di Stolfo, Antonio Petracca, Ester Maria Lucia Bevere, Riccardo Pracella, Domenico Rosario Potenza, Carmela Fusco, Sandra Mastroianno, Marco Castori
Biallelic LZTR1 variants in a 49-year-old woman with hypertrophic cardiomyopathy: A clue for considering LZTR1 in adults. American journal of medical genetics. Part A 194 (5) (2023)
Giuseppe Di Stolfo, Antonio Petracca, Ester Maria Lucia Bevere, Riccardo Pracella, Domenico Rosario Potenza, Carmela Fusco, Sandra Mastroianno, Marco Castori
Biallelic LZTR1 variants in a 49-year-old woman with hypertrophic cardiomyopathy: A clue for considering LZTR1 in adults. American journal of medical genetics. Part A (2023)
Giuseppe Di Stolfo, Antonio Petracca, Ester Maria Lucia Bevere, Riccardo Pracella, Domenico Rosario Potenza, Carmela Fusco, Sandra Mastroianno, Marco Castori
Biallelic LZTR1 variants in a 49-year-old woman with hypertrophic cardiomyopathy: A clue for considering LZTR1 in adults. American journal of medical genetics. Part A 194 (5) (2023)
Lucia Micale, Carmela Fusco, Grazia Nardella, Giuseppe Biscaglia, Tiziana Latiano, Domenica Gioffreda, Francesca Tavano, Anna Panza, Antonio Merla, Giuseppe Biscaglia, Marco Gentile, Antonello Cuttitta, Marco Castori, Francesco Perri, Anna Latiano
Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene. International journal of molecular sciences 24 (1) (2022)
Lucia Micale, Carmela Fusco, Grazia Nardella, Giuseppe Biscaglia, Tiziana Latiano, Domenica Gioffreda, Francesca Tavano, Anna Panza, Antonio Merla, Giuseppe Biscaglia, Marco Gentile, Antonello Cuttitta, Marco Castori, Francesco Perri, Anna Latiano
Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene. International journal of molecular sciences 24 (1) (2022)
Carmela Fusco, Grazia Nardella, Lucio Di Filippo, Elisabetta Dejana, Davide Cacchiarelli, Antonio Petracca, Lucia Micale, Matteo Malinverno, Marco Castori
Transcriptome Analysis Reveals Altered Expression of Genes Involved in Hypoxia, Inflammation and Immune Regulation in Pdcd10 -Depleted Mouse Endothelial Cells. Genes 13 (6) (2022)
Lucia Micale, Carmela Fusco, Grazia Nardella, Giuseppe Biscaglia, Tiziana Latiano, Domenica Gioffreda, Francesca Tavano, Anna Panza, Antonio Merla, Giuseppe Biscaglia, Marco Gentile, Antonello Cuttitta, Marco Castori, Francesco Perri, Anna Latiano
Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene. International journal of molecular sciences 24 (1) (2022)
Lucia Micale, Carmela Fusco, Grazia Nardella, Giuseppe Biscaglia, Tiziana Latiano, Domenica Gioffreda, Francesca Tavano, Anna Panza, Antonio Merla, Giuseppe Biscaglia, Marco Gentile, Antonello Cuttitta, Marco Castori, Francesco Perri, Anna Latiano
Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene. International journal of molecular sciences 24 (1) (2022)
Carmela Fusco, Grazia Nardella, Antonio Petracca, Dario Ronchi, Nicola Paciello, Marilena Di Giacomo, Stefano Gambardella, Silvia Lanfranconi, Stefania Zampatti, Leonardo D'Agruma, Lucia Micale, Marco Castori
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants. Clinical genetics 99 (6) (2021)
Carmela Fusco, Massimiliano Copetti, Tommaso Mazza, Luigi Amoruso, Sandra Mastroianno, Grazia Nardella, Vito Guarnieri, Lucia Micale, Leonardo D'Agruma, Marco Castori
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations. Human mutation 40 (11) (2020)
Carmela Fusco, Lucia Micale, Marco Castori
Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene. Human mutation 41 (5) (2020)
Silvia Morlino, Annalucia Carbone, Marco Ritelli, Carmela Fusco, Vincenzo Giambra, Grazia Nardella, Angelantonio Notarangelo, Patrizio Panelli, Gianluigi Mazzoccoli, Nicoletta Zoppi, Paola Grammatico, Emma M Wade, Marina Colombi, Marco Castori, Lucia Micale
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis. Human mutation 40 (10) (2019)
Grazia Nardella, Grazia Visci, Vito Guarnieri, Stefano Castellana, Tommaso Biagini, Luigi Bisceglia, Orazio Palumbo, Marina Trivisano, Carmela Vaira, Massimo Scerrati, Davide Debrasi, Vincenzo D'Angelo, Massimo Carella, Giuseppe Merla, Tommaso Mazza, Marco Castori, Leonardo D'Agruma, Carmela Fusco
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion. Human mutation 39 (12) (2018)