Pubblicazioni

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients

2025 - EUROPEAN JOURNAL OF HUMAN GENETICS
Fabiani, Marco; Micolonghi, Caterina; Caroselli, Silvia; Savio, Camilla; Petrucci, Simona; Tini, Giacomo; Musumeci, Beatrice; Pagannone, Erika; De Fazio, Ludovica; Germani, Aldo; Visco, Vincenzo; Pizzuti, Antonio; Veneziano, Liana; Marchionni, Enrica; Mango, Ruggiero; Pezzoli, Laura; Bottillo, Irene; Lucca, Camilla; Scatigno, Agnese; Goisis, Lucrezia; Cappuccini, Francesca; Ciccone, Maria Pia; Ballerini, Adelaide; Gozzini, Alessia; Onofri, Valerio; Cristalli, Carlotta Pia; Latini, Andrea; D'Angelantonio, Daniela; Gualandi, Francesca; Tortora, Giada; Magliozzi, Monia; Novelli, Antonio; Rossi, Cesare; Grammatico, Paola; Sangiuolo, Federica; Girolami, Francesca; Iascone, Maria; Olivotto, Iacopo; Autore, Camillo; Rubattu, Speranza; Piane, Maria

Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis

2024 - EUROPEAN JOURNAL OF HUMAN GENETICS
Marchionni, Enrica; Guadagnolo, Daniele; Mastromoro, Gioia; Pizzuti, Antonio

First-trimester cystic hygroma as the prenatal presenting feature of ASCC1-related spinal muscular atrophy withith congenital bone fractures

2024 - EUROPEAN JOURNAL OF HUMAN GENETICS
Guadagnolo, Daniele; Mastromoro, Gioia; Hashemian, Nader Khaleghi; Orlando, Valeria; Lepri, Francesca Romana; D'Alberti, Elena; Zullo, Fabrizio; Giancotti, Antonella; Novelli, Antonio; Pizzuti, Antonio

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome

2024 - EUROPEAN JOURNAL OF HUMAN GENETICS
D'Abrusco, Fulvio; Serpieri, Valentina; Taccagni, Cecilia Maria; Garau, Jessica; Cattaneo, Luca; Boggioni, Monica; Gana, Simone; Battini, Roberta; Bertini, Enrico; Zanni, Ginevra; Boltshauser, Eugen; Borgatti, Renato; Romaniello, Romina; Signorini, Sabrina; Leuzzi, Vincenzo; Caputi, Caterina; Manti, Filippo; D'Arrigo, Stefano; De Laurentiis, Arianna; Graziano, Claudio; Lemke, Johannes R; Morelli, Federica; Petković Ramadža, Danijela; Sirchia, Fabio; Giorgio, Elisa; Valente, Enza Maria

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

2024 - EUROPEAN JOURNAL OF HUMAN GENETICS
Dentici, Maria Lisa; Niceta, Marcello; Lepri, Francesca Romana; Mancini, Cecilia; Priolo, Manuela; Bonnard, Adeline Alice; Cappelletti, Camilla; Leoni, Chiara; Ciolfi, Andrea; Pizzi, Simone; Cordeddu, Viviana; Rossi, Cesare; Ferilli, Marco; Mucciolo, Mafalda; Colona, Vito Luigi; Fauth, Christine; Bellini, Melissa; Biasucci, Giacomo; Sinibaldi, Lorenzo; Briuglia, Silvana; Gazzin, Andrea; Carli, Diana; Memo, Luigi; Trevisson, Eva; Schiavariello, Concetta; Luca, Maria; Novelli, Antonio; Michot, Caroline; Sweertvaegher, Anne; Germanaud, David; Scarano, Emanuela; De Luca, Alessandro; Zampino, Giuseppe; Zenker, Martin; Mussa, Alessandro; Dallapiccola, Bruno; Cavé, Helene; Digilio, Maria Cristina; Tartaglia, Marco

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism

2024 - EUROPEAN JOURNAL OF HUMAN GENETICS
Niceta, Marcello; Ciolfi, Andrea; Ferilli, Marco; Pedace, Lucia; Cappelletti, Camilla; Nardini, Claudia; Hildonen, Mathis; Chiriatti, Luigi; Miele, Evelina; Dentici, Maria Lisa; Gnazzo, Maria; Cesario, Claudia; Pisaneschi, Elisa; Baban, Anwar; Novelli, Antonio; Maitz, Silvia; Selicorni, Angelo; Squeo, Gabriella Maria; Merla, Giuseppe; Dallapiccola, Bruno; Tumer, Zeynep; Digilio, Maria Cristina; Priolo, Manuela; Tartaglia, Marco

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

2023 - EUROPEAN JOURNAL OF HUMAN GENETICS
Piceci-Sparascio, Francesca; Micale, Lucia; Torres, Barbara; Guida, Valentina; Consoli, Federica; Torrente, Isabella; Onori, Annamaria; Frustaci, Emanuela; D'Asdia, Maria Cecilia; Petrizzelli, Francesco; Bernardini, Laura; Mancini, Cecilia; Soli, Fiorenza; Cocciadiferro, Dario; Guadagnolo, Daniele; Mastromoro, Gioia; Putotto, Carolina; Fontana, Franco; Brunetti-Pierri, Nicola; Novelli, Antonio; Pizzuti, Antonio; Marino, Bruno; Digilio, Maria Cristina; Mazza, Tommaso; Dallapiccola, Bruno; Ruiz-Perez, Victor Luis; Tartaglia, Marco; Castori, Marco; De Luca, Alessandro

Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?

2022 - EUROPEAN JOURNAL OF HUMAN GENETICS
Bottillo, Irene; Savino, Emanuele; Majore, Silvia; Mulargia, Claudia; Valiante, Michele; Ferraris, Alessandro; Rossi, Valentina; Svegliati, Francesca; Ciccone, Maria Pia; Brusco, Francesca; Grammatico, Barbara; Di Giacomo, Gianluca; Bargiacchi, Simone; D'Angelantonio, Daniela; Grammatico, Paola

The role of the Genetic Counsellor in the multidisciplinary team: the perception of geneticists in Europe

2022 - EUROPEAN JOURNAL OF HUMAN GENETICS
Catapano, Francesca; EL HACHMI, Mohamed; Ketterer-Heng, Natacha; Renieri, Alessandra; Mari, Francesca; Morris and Christophe Cordier, Michael

Uniparental disomy of chromosome 16: a case report with a new cardiac malformation Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters

2020 - EUROPEAN JOURNAL OF HUMAN GENETICS
Di Palma, F.; Goldoni, M.; Marchionni, E.; Caravale, B.; Mondovì, M. T.; Mastromoro, G.; Guadagnolo, D.; Versacci, P.; D'Ambrosio, V.; Giancotti, A.; Bernardini, L.; Pizzuti, A.

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

2020 - EUROPEAN JOURNAL OF HUMAN GENETICS
Lissewski, Christina; Chune, Valérie; Pantaleoni, Francesca; De Luca, Alessandro; Capri, Yline; Brinkmann, Julia; Lepri, Francesca; Daniele, Paola; Leenders, Erika; Mazzanti, Laura; Scarano, Emanuela; Clementina Radio, Francesca; Kutsche, Kerstin; Kuechler, Alma; Gérard, Marion; Ranguin, Kara; Legendre, Marine; Vial, Yoann; van der Burgt, Ineke; Rinne, Tuula; Andreucci, Elena; Mastromoro, Gioia; Cristina Digilio, Maria; Cave, Hélène; Tartaglia, Marco; Zenker, Martin

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients

2019 - EUROPEAN JOURNAL OF HUMAN GENETICS
Maioli, Margherita; Gnoli, Maria; Boarini, Manila; Tremosini, Morena; Zambrano, Anna; Pedrini, Elena; Mordenti, Marina; Corsini, Serena; D'Eufemia, Patrizia; Versacci, Paolo; Celli, Mauro; Sangiorgi, Luca

Gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study

2019 - EUROPEAN JOURNAL OF HUMAN GENETICS
Moreno-Mendoza, D.; Casamonti, E.; Paoli, D.; Chianese, C.; Riera-Escamilla, A.; Giachini, C.; Fino, M. G.; Cioppi, F.; Lotti, F.; Vinci, S.; Magini, A.; Ars, E.; Sanchez-Curbelo, J.; Ruiz-Castane, E.; Lenzi, A.; Lombardo, F.; Krausz, C.

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

2019 - EUROPEAN JOURNAL OF HUMAN GENETICS
Palumbo, P; Petracca, A; Maggi, R; Biagini, T; Nardella, G; Sacco, Mc; Di Schiavi, E; Carella, M; Micale, L; Castori, M.

Understanding attitudes and behaviors towards cell-free DNA-based noninvasive prenatal testing (NIPT): A survey of European health-care providers

2019 - EUROPEAN JOURNAL OF HUMAN GENETICS
Benachi, A; Caffrey, J; Calda, P; Carreras, E; Jani, J; Kilby, M; Klein, Hg; Rizzo, G; Yaron, Y.

Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia

2018 - EUROPEAN JOURNAL OF HUMAN GENETICS
D’Andrea, Elvira; Lagerberg, Tyra; de Vito, Corrado; Pitini, Erica; Marzuillo, Carolina; Massimi, Azzurra; Vacchio, Maria Rosaria; Grammatico, Paola; Villari, Paolo

How is genetic testing evaluated? A systematic review of the literature

2018 - EUROPEAN JOURNAL OF HUMAN GENETICS
Pitini, Erica; de Vito, Corrado; Marzuillo, Carolina; D’Andrea, Elvira; Rosso, Annalisa; Federici, Antonio; Di Maria, Emilio; Villari, Paolo

Correction: Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia

2018 - EUROPEAN JOURNAL OF HUMAN GENETICS
D'Andrea, Elvira; Lagerberg, Tyra; De Vito, Corrado; Pitini, Erica; Marzuillo, Carolina; Massimi, Azzurra; Vacchio, Maria Rosaria; Grammatico, Paola; Villari, Paolo

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

2018 - EUROPEAN JOURNAL OF HUMAN GENETICS
Brancati, Francesco; Camerota, Letizia; Colao, Emma; Vega-Warner, Virginia; Zhao, Xiangzhong; Zhang, Ruixiao; Bottillo, Irene; Castori, Marco; Caglioti, Alfredo; Sangiuolo, Federica; Novelli, Giuseppe; Perrotti, Nicola; Otto, Edgar A.; Taruscio, Domenica; Salvatore, Marco; De Stefano, Maria Chiara; Censi, Federica; Floridia, Giovanna; Brancati, Francesco; Daina, Erica; Iatropoulos, Paraskevas; Ferlini, Alessandra; Roccatello, Dario; Baldovino, Simone; Menegatti, Elisa; Bembi, Bruno

Between SCA5 and SCAR14: Delineation of the SPTBN2 p.R480W-associated phenotype

2018 - EUROPEAN JOURNAL OF HUMAN GENETICS
Nuovo, S.; Micalizzi, A.; D'Arrigo, S.; Ginevrino, M.; Biagini, T.; Mazza, T.; Valente, E. M.

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

2017 - EUROPEAN JOURNAL OF HUMAN GENETICS
Youssefian, L; Vahidnezhad, H; Saeidian, Ah; Sotoudeh, S; Mahmoudi, H; Daneshpazhooh, M; Aghazadeh, N; Adams, R; Ghanadan, A; Zeinali, S; Fortina, P; Uitto, J.

The Greeks in the West. Genetic signatures of the Hellenic colonisation in southern Italy and Sicily

2016 - EUROPEAN JOURNAL OF HUMAN GENETICS
Tofanelli, Sergio; Brisighelli, Francesca; Anagnostou, Paolo; Busby, George B. J.; Ferri, Gianmarco; Thomas, Mark G.; Taglioli, Luca; Rudan, Igor; Zemunik, Tatijana; Hayward, Caroline; Bolnick, Deborah; Romano, Valentino; Cali, Francesco; Luiselli, Donata; Shepherd, Gillian B.; Tusa, Sebastiano; Facella, Antonino; Capelli, Cristian

Shared language, diverging genetic histories. High-resolution analysis of Y-chromosome variability in Calabrian and Sicilian Arbereshe

2016 - EUROPEAN JOURNAL OF HUMAN GENETICS
Sarno, Stefania; Tofanelli, Sergio; De Fanti, Sara; Quagliariello, Andrea; Bortolini, Eugenio; Ferri, Gianmarco; Anagnostou, Paolo; Brisighelli, Francesca; Capelli, Cristian; Tagarelli, Giuseppe; Sineo, Luca; Luiselli, Donata; Boattini, Alessio; Pettener, Davide

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

2016 - EUROPEAN JOURNAL OF HUMAN GENETICS
Matera, Ivana; Rusmini, Marta; Guo, Yiran; Lerone, Margherita; Li, Jiankang; Zhang, Jianguo; Di Duca, Marco; Nozza, Paolo; Mosconi, Manuela; Prato, Alessio Pini; Martucciello, Giuseppe; Barabino, Arrigo; Morandi, Francesco; De Giorgio, Roberto; Stanghellini, Vincenzo; Ravazzolo, Roberto; Devoto, Marcella; Hakonarson, Hakon; Ceccherini, Isabella

Fanconi anaemia, chromosome instability, DNA replication and fragile sites

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS
Pelliccia, Franca; Genovesi, Ml; Maccaroni, Klizia

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