Marco Castori

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93 Article
12 Review article
2 Letter
1 Comment/debate

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
Kerkhof, J., Squeo, G. M., McConkey, H., Levy, M. A., Piemontese, M., Castori, M., Accadia, M., Biamino, E., Della Monica, M., Di Giacomo, M. C., Gervasini, C., Maitz, S., Melis, D., Milani, D., Piccione, M., Prontera, P., Selicorni, A., Sadikovic, B. & Merla, G., 2022, In: Genetics in Medicine. 24, 1, p. 51-60 10 p.
Research output: Contribution to journal › Article › peer-review
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement
Micale, L., Morlino, S., Carbone, A., Carissimo, A., Nardella, G., Fusco, C., Palumbo, O., Schirizzi, A., Russo, F., Mazzoccoli, G., Breckpot, J., De Luca, C., Ferraris, A., Giunta, C., Grammatico, P., Haanpää, M. K., Mancano, G., Forzano, G., Cacchiarelli, D., Van Esch, H. & 3 others, Callewaert, B., Rohrbach, M. & Castori, M., 2022, In: Genetics in Medicine. 24, 2, p. 439-453 15 p.
Research output: Contribution to journal › Article › peer-review
A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome
Cinque, L., Micale, L., Manara, E., Esposito, A., Palumbo, O., Chiariello, A. M., Bianco, S., Guerri, G., Bertelli, M., Giuffrida, M. G., Bernardini, L., Notarangelo, A., Nicodemi, M. & Castori, M., 2021, In: Human Genetics.
Research output: Contribution to journal › Article › peer-review
A proposal of rehabilitative approach in the rare disease “De barsy syndrome”: Case report
Celletti, C., Camerota, F., Paolucci, T., Pezzi, L., de Meo, D., Castori, M., Villani, C. & Persiani, P., Jan 2021, In: Clinica Terapeutica. 172, 1, p. 4-7 4 p.
Research output: Contribution to journal › Review article › peer-review
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study
Fallerini, C., Daga, S., Mantovani, S., Benetti, E., Picchiotti, N., Francisci, D., Paciosi, F., Schiaroli, E., Baldassarri, M., Fava, F., Palmieri, M., Ludovisi, S., Castelli, F., Quiros-Roldan, E., Vaghi, M., Rusconi, S., Siano, M., Bandini, M., Spiga, O., Capitani, K. & 128 others, Furini, S., Mari, F., Renieri, A., Mondelli, M. U., Frullanti, E., Valentino, F., Doddato, G., Giliberti, A., Tita, R., Amitrano, S., Bruttini, M., Croci, S., Meloni, I., Mencarelli, M. A., Rizzo, C. L., Pinto, A. M., Sarno, L. D., Beligni, G., Tommasi, A., Iuso, N., Montagnani, F., Fabbiani, M., Rossetti, B., Zanelli, G., Bargagli, E., Bergantini, L., D’alessandro, M., Cameli, P., Bennett, D., Anedda, F., Marcantonio, S., Scolletta, S., Franchi, F., Mazzei, M. A., Guerrini, S., Conticini, E., Cantarini, L., Frediani, B., Tacconi, D., Spertilli, C., Feri, M., Donati, A., Scala, R., Guidelli, L., Spargi, G., Corridi, M., Nencioni, C., Croci, L., Caldarelli, G. P., Spagnesi, M., Romani, D., Piacentini, P., Desanctis, E., Cappelli, S., Canaccini, A., Verzuri, A., Anemoli, V., Ognibene, A., D’Arminio Monforte, A., Miraglia, F. G., Girardis, M., Venturelli, S., Busani, S., Cossarizza, A., Antinori, A., Vergori, A., Emiliozzi, A., Gabrieli, A., Riva, A., Scotton, P. G., Andretta, F., Panese, S., Scaggiante, R., Gatti, F., Parisi, S. G., Baratti, S., Antoni, M. D., Monica, M. D., Piscopo, C., Capasso, M., Russo, R., Andolfo, I., Iolascon, A., Fiorentino, G., Carella, M., Castori, M., Merla, G., Squeo, G. M., Aucella, F., Raggi, P., Marciano, C., Perna, R., Bassetti, M., Biagio, A. D., Sanguinetti, M., Masucci, L., Valente, S., Mandalà, M., Giorli, A., Salerni, L., Zucchi, P., Parravicini, P., Menatti, E., Trotta, T., Giannattasio, F., Coiro, G., Lena, F., Coviello, D. A., Mussini, C., Bosio, G., Martinelli, E., Mancarella, S., Tavecchia, L., Gori, M., Crotti, L., Parati, G., Gabbi, C., Zanella, I., Rizzi, M., Maggiolo, F., Ripamonti, D., Bachetti, T., Rovere, M. T. L., Sarzi-Braga, S., Bussotti, M., Chiariello, M., Belli, M. A. & Dei, S., 2021, In: eLife. 10
Research output: Contribution to journal › Article › peer-review

Marco Castori

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DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome

A proposal of rehabilitative approach in the rare disease “De barsy syndrome”: Case report

Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study

Marco Castori

Fingerprint

Network

Research output

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome

A proposal of rehabilitative approach in the rare disease “De barsy syndrome”: Case report

Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study