Pubblicazioni

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

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

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.

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

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS
Cafiero, Concetta; Marangi, Giuseppe; Orteschi, Daniela; Ali, Marwan; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, Ilaria; Leuzzi, Vincenzo; Battaglia, Domenica; Mercuri, Eugenio; Slavotinek, Anne M; Zollino, Marcella

(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS
Mussa, Alessandro; Russo, Silvia; de Crescenzo, Agostina; Freschi, Andrea; Calzari, Luciano; Maitz, Silvia; Macchiaiolo, Marina; Molinatto, Cristina; Baldassarre, Giuseppina; Mariani, Milena; Tarani, Luigi; Bedeschi, Maria Francesca; Milani, Donatella; Melis, Daniela; Bartuli, Andrea; Cubellis, Maria Vittoria; Selicorni, Angelo; Cirillo Silengo, Margherita; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista

Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS
Capalbo, Antonio; Treff, Nathan R; Cimadomo, Danilo; Tao, Xin; Upham, Kathleen; Ubaldi, Filippo Maria; Rienzi, Laura; Scott, Richard T.

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS
Pinna, Valentina; Lanari, Valentina; Daniele, Paola; Consoli, Federica; Agolini, Emanuele; Margiotti, Katia; Bottillo, Irene; Torrente, Isabella; Bruselles, Alessandro; Fusilli, Caterina; Ficcadenti, Anna; Bargiacchi, Sara; Trevisson, Eva; Forzan, Monica; Giustini, Sandra; Leoni, Chiara; Zampino, Giuseppe; Digilio, Maria Cristina; Dallapiccola, Bruno; Clementi, Maurizio; Tartaglia, Marco; De Luca, Alessandro

Amplicon-based Next Generation Sequencing: an effective approach to molecular diagnosis of Epidermolysis Bullosa

2015 - EUROPEAN JOURNAL OF HUMAN GENETICSEuropean Human Genetics Conference 2015
Tenedini, Elena; Artuso, Lucia; Bernardis, Isabella; Artusi, Valentina; Percesepe, Antonio; Manfredini, Rossella; De Rosa, Laura; Contin, Roberta; Pellacani, Giovanni; Giannetti, Alberto; Pagani, Jacopo; De Luca, Michele; Tagliafico, Enrico

A family history of dementia influences the development and the progression of late-onset Alzheimer’s disease

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS
Corbo, Rosa Maria; Gambina, G.; Broggio, E.; Scarabino, D.

The genetic basis of the relationship between reproduction and longevity : a study on common variants of three genes in steroid hormone metabolism (CYP17, HSD17B1, COMT).

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS
Scarabino, D.; Pelliccia, Franca; Pinto, Alessandro; Corbo, Rosa Maria

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