Marco Castori

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 21

Top Topics

Hypertrophic Cardiomyopathy

Intellectual Disability

Dna Methylation

Top Venues

American journal of medical genetics. Part A

Clinical genetics

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

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

Publications

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)
Alessandra Torraco, Silvia Morlino, Teresa Rizza, Michela Di Nottia, Giorgia Bottaro, Luigi Bisceglia, Arianna Montanari, Marco Cappa, Marco Castori, Enrico Bertini, Rosalba Carrozzo
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature. Clinical genetics 102 (1) (2022)
Silvia Majore, Emanuele Agolini, Lucia Micale, Giulia Pascolini, Paolo Zuppi, Dario Cocciadiferro, Silvia Morlino, Matteo Mattiuzzo, Michele Valiante, Marco Castori, Antonio Novelli, Paola Grammatico
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome. Clinical genetics 99 (4) (2021)
Marco Castori
Deconstructing and reconstructing joint hypermobility on an evo-devo perspective. Rheumatology (Oxford, England) 60 (6) (2021)
Chiara De Luca, Simonetta Picone, Matteo Cassina, Simone Marziali, Silvia Morlino, Letizia Camerota, Gianpiero Tamburrini, Marco Castori, Piermichele Paolillo, Leonardo Salviati, Francesco Brancati
Craniosynostosis is a feature of CHD7-related CHARGE syndrome. American journal of medical genetics. Part A 185 (7) (2021)
Jennifer E Glayzer, Barbara L McFarlin, Marco Castori, Marie L Suarez, Monya C Meinel, William H Kobak, Alana D Steffen, Judith M Schlaeger
High rate of dyspareunia and probable vulvodynia in Ehlers-Danlos syndromes and hypermobility spectrum disorders: An online survey. American journal of medical genetics. Part C, Seminars in medical genetics 187 (4) (2021)
Valentina Guida, Francesca Piceci Sparascio, Laura Bernardini, Francesco Pancheri, Daniela Melis, Dario Cocciadiferro, Mario Pagnoni, Marianna Puzzo, Marina Goldoni, Chiara Barone, Hossein Hozhabri, Carolina Putotto, Maria Grazia Giuffrida, Silvana Briuglia, Orazio Palumbo, Sebastiano Bianca, Franco Stanzial, Francesco Benedicenti, Ariana Kariminejad, Francesca Forzano, Leila Baghernajad Salehi, Teresa Mattina, Francesco Brancati, Marco Castori, Massimo Carella, Maria Teresa Fadda, Giorgio Iannetti, Bruno Dallapiccola, Maria Christina Digilio, Bruno Marino, Tartaglia Marco, Alessandro De Luca
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects. Clinical genetics 100 (3) (2021)
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, 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, Grazia Nardella, Stefano Castellana, Lucia Micale, Massimiliano Copetti, Carmela Fusco, Marco Castori
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A. American journal of medical genetics. Part A 185 (3) (2020)
Vito Guarnieri, Silvia Morlino, Giuseppe Di Stolfo, Sandra Mastroianno, Tommaso Mazza, Marco Castori
Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2. American journal of medical genetics. Part A 179 (5) (2019)
Silvia Morlino, Lucia Micale, Marco Ritelli, Marianne Rohrbach, Nicoletta Zoppi, Anthony Vandersteen, Sara Mackay, Emanuele Agolini, Dario Cocciadiferro, Erina Sasaki, Annalisa Madeo, Alessandro Ferraris, Willie Reardon, Maja Di Rocco, Antonio Novelli, Paola Grammatico, Fransiska Malfait, Tommaso Mazza, Alan Hakim, Cecilia Giunta, Marina Colombi, Marco Castori
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap. Clinical genetics 97 (3) (2019)
Marco Ritelli, Chiara Rovati, Marina Venturini, Nicola Chiarelli, Valeria Cinquina, Marco Castori, Marina Colombi
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology. Clinical genetics 97 (2) (2019)
Marco Castori, Chiara Fiorillo, Emanuele Agolini, Michele Sacco, Carlo Minetti, Antonio Novelli, Giuseppe Guglielmi, Enrico Bertini
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14. American journal of medical genetics. Part A 179 (2) (2018)
Silvia Morlino, Chiara Dordoni, Isabella Sperduti, Carol J Clark, Caterina Piedimonte, Andrea Fontana, Marina Colombi, Paola Grammatico, Massimiliano Copetti, Marco Castori
Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 180 (1) (2018)
Caterina Piedimonte, Roberta Penge, Silvia Morlino, Isabella Sperduti, Andrea Terzani, Maria Teresa Giannini, Marina Colombi, Paola Grammatico, Francesco Cardona, Marco Castori
Exploring relationships between joint hypermobility and neurodevelopment in children (4-13 years) with hereditary connective tissue disorders and developmental coordination disorder. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 177 (6) (2018)
Silvia Morlino, Viola Alesi, Federica Calì, Francesca Romana Lepri, Aurelio Secinaro, Paola Grammatico, Antonio Novelli, Fabrizio Drago, Marco Castori, Anwar Baban
LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant. American journal of medical genetics. Part A 179 (1) (2018)