Pubblicazioni

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

2025 - CLINICAL GENETICS

ContrÃ², Gianluca; Baroni, Maria Chiara; Caraffi, Stefano Giuseppe; Napoli, Manuela; Artuso, Rosangela; Giliberti, Annarita; Bargiacchi, Sara; Mancano, Giorgia; Traficante, Giovanna; Mucciolo, Mafalda; Radio, Francesca Clementina; Cordeddu, Viviana; Mancini, Cecilia; Bottillo, Irene; Pirro, Federica Anna; Bonati, Maria Teresa; Becker, Cord-Christian; Carli, Diana; Mussa, Alessandro; Gonzalez, Maria Isis Atallah; Ruiz-Arana, Inge Lore; Kumps, Camille; Maystadt, Isabelle; Moortgat, Stephanie; Peker, Alp; Piccione, Maria; Grammatico, Paola; Rostomashvili, Nino; LÃ©vy, Jonathan; Scala, Marcello; Capra, Valeria; Torella, Annalaura; van Eyk, Clare; Isidor, Bertrand; Cogne, Benjamin; Srivastava, Siddharth; Quinlan, Aisling; Vaisfeld, Alessandro; Licchetta, Laura; Frattini, Daniele; Graziano, Claudio; Severi, Giulia; Bacchi, Isabelle; Soliani, Luca; Sherr, Elliott H; Argilli, Emanuela; Goel, Himanshu; De Luca, Chiara; Leonardi, Silvia; Brancati, Francesco; Faletra, Flavio; Mio, Catia; Braibanti, Silvia; Gargano, Giancarlo; Fusco, Carlo; Novelli, Antonio; Tartaglia, Marco; Garavelli, Livia

Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay

2024 - CLINICAL GENETICS

Wang, Zhi; Sun, Yan; Zhang, Yiyin; Zhang, Yan; Zhang, Ran; Li, Changying; Liu, Xuyan; Pan, Fengjiao; Qiao, Dan; Shi, Xiaomeng; Zhang, Bingying; Xu, Ning; Bottillo, Irene; Shao, Leping

DNA methylation signature classification of rare disorders using publicly available methylation data

2023 - CLINICAL GENETICS

Hildonen, Mathis; Ferilli, Marco; HjortshÃ¸j, Tina Duelund; DunÃ¸, Morten; Risom, Lotte; Bak, Mads; Ek, Jakob; MÃ¸ller, Rikke S; Ciolfi, Andrea; Tartaglia, Marco; TÃ¼mer, Zeynep

Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB

2022 - CLINICAL GENETICS

Pascolini, G.; Passarelli, C.; Lipari, M.; Chandramouli, B.; Chillemi, G.; Di Giosaffatte, N.; Novelli, A.; Grammatico, P.

A novel c.952T>C mutation in Notch3 gene in a patient with chronic non-migraine-like headache: Expanding the genotypic spectrum of CADASIL?

2022 - CLINICAL GENETICS

Scala, Irene; Piane, Maria; Frisullo, Giovanni; Marotta, Jessica; Bellavia, Simone; Andrea Rizzo, Pier; Rollo, Eleonora; Vollono, Catello; Pizzuti, Antonio; Brunetti, Valerio; Della Marca, Giacomo

Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)

2022 - CLINICAL GENETICS

Ferese, Rosangela; Scala, Simona; Suppa, Antonio; Campopiano, Rosa; Asci, Francesco; Chiaravalloti, Maria Antonietta; Zampogna, Alessandro; D'Alessio, Carmelo; Fittipaldi, Filomena; Buttari, Fabio; Di Pardo, Alba; Giardina, Emiliano; Zampatti, Stefania; Fornai, Francesco; Novelli, Giuseppe; Fanelli, Mirco; Zecca, Chiara; Logroscino, Giancarlo; Centonze, Diego; Gambardella, Stefano

SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction

2022 - CLINICAL GENETICS

Priolo, Manuela; Palermo, Valentina; Aiello, FRANCESCA ANTONELLA; Ciolfi, Andrea; Pannone, Luca; Muto, Valentina; Motta, Marialetizia; Mancini, Cecilia; Radio, FRANCESCA CLEMENTINA; Niceta, Marcello; Leoni, Chiara; Pintomalli, Letizia; Carrozzo, Rosalba; Rajola, Giuseppe; Mamm(`(i)), Corrado; Zampino, Giuseppe; Martinelli, Simone; Dallapiccola, Bruno; Pichierri, Pietro; Tartaglia, Marco

Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques

2022 - CLINICAL GENETICS

Carli, Diana; Operti, Matteo; Russo, Silvia; Cocchi, Guido; Milani, Donatella; Leoni, Chiara; Prada, Elisabetta; Melis, Daniela; Falco, Mariateresa; Spina, Jennifer; Uliana, Vera; Sara, Osimani; Sirchia, Fabio; Tarani, Luigi; Macchiaiolo, Marina; Cerrato, Flavia; Sparago, Angela; Pignata, Laura; Tannorella, Pierpaola; Cardaropoli, Simona; Bartuli, Andrea; Riccio, Andrea; Ferrero, Giovanni Battista; Mussa, Alessandro

A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature

2022 - CLINICAL GENETICS

Torraco, Alessandra; Morlino, Silvia; Rizza, Teresa; Di Nottia, Michela; Bottaro, Giorgia; Bisceglia, Luigi; Montanari, Arianna; Cappa, Marco; Castori, Marco; Bertini, Enrico; Carrozzo, Rosalba

Expanding the novel MAPKAPK5ârelated developmental disorder's genotypeâphenotype correlation: Patient report and 19Â months of follow-up

2022 - CLINICAL GENETICS

Vecchio, D.; Cocciadiferro, D.; Macchiaiolo, M.; Gonfiantini, M. V.; Agolini, E.; Matraxia, M.; Carboni, A.; Coretti, A.; Villani, A.; Panfili, F. M.; Dentici, M. L.; Buonuomo, P. S.; Rana, I.; Colafati, G. S.; Digilio, M. C.; Novelli, A.; Bartuli, A.

Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects

2021 - CLINICAL GENETICS

Guida, V.; Piceci Sparascio, F.; Bernardini, L.; Pancheri, F.; Melis, D.; Cocciadiferro, D.; Pagnoni, M.; Puzzo, M.; Goldoni, M.; Barone, C.; Hozhabri, H.; Putotto, C.; Giuffrida, M. G.; Briuglia, S.; Palumbo, O.; Bianca, S.; Stanzial, F.; Benedicenti, F.; Kariminejad, A.; Forzano, F.; Baghernajad Salehi, L.; Mattina, T.; Brancati, F.; Castori, M.; Carella, M.; Fadda, M. T.; Iannetti, G.; Dallapiccola, B.; Digilio, M. C.; Marino, B.; Tartaglia, M.; De Luca, A.

Molecular defects in thyroid dysgenesis

2020 - CLINICAL GENETICS

Mio, C.; Grani, G.; Durante, C.; Damante, G.

The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype

2020 - CLINICAL GENETICS

Pascolini, G.; Agolini, E.; Novelli, A.; Majore, S.; Grammatico, P.

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

2020 - CLINICAL GENETICS

Morlino, S.; Micale, L.; Ritelli, M.; Rohrbach, M.; Zoppi, N.; Vandersteen, A.; Mackay, S.; Agolini, E.; Cocciadiferro, D.; Sasaki, E.; Madeo, A.; Ferraris, A.; Reardon, W.; Di Rocco, M.; Novelli, A.; Grammatico, P.; Malfait, F.; Mazza, T.; Hakim, A.; Giunta, C.; Colombi, M.; Castori, M.

Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome

2020 - CLINICAL GENETICS

Majore, S; Agolini, E; Micale, L; Pascolini, G; Zuppi, P; Cocciadiferro, D; Morlino, S; Mattiuzzo, M; Valiante, M; Castori, M; Novelli, A;  , ; Grammatico, P

Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog

2019 - CLINICAL GENETICS

Digilio, M C; Pugnaloni, F; De Luca, A; Calcagni, G; Baban, A; Dentici, M L; Versacci, P; Dallapiccola, B; Tartaglia, M; Marino, B

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

2018 - CLINICAL GENETICS

Dentici, Maria Lisa; Barresi, Sabina; Niceta, Marcello; Pantaleoni, Francesca; Pizzi, Simone; Dallapiccola, Bruno; Tartaglia, Marco; Digilio, Maria Cristina

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

2018 - CLINICAL GENETICS

Niceta, M.; Margiotti, K.; Digilio, M. C.; Guida, V.; Bruselles, A.; Pizzi, S.; Ferraris, A.; Memo, L.; Laforgia, N.; Dentici, M. L.; Consoli, F.; Torrente, I.; Ruiz-Perez, V. L.; Dallapiccola, B.; Marino, B.; De Luca, A.; Tartaglia, M.

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

2017 - CLINICAL GENETICS

Torraco, Alessandra; Bianchi, Marzia; Verrigni, Daniela; Gelmetti, Vania; Riley, Lisa; Niceta, Marcello; Martinelli, Diego; Montanari, Arianna; Guo, Yiran; Rizza, Teresa; Diodato, Daria; Di Nottia, Michela; Lucarelli, Barbarella; Sorrentino, Francesco; Piemonte, Fiorella; Francisci, Silvia; Tartaglia, Marco; Valente, Enza Maria; Dionisi Vico, Carlo; Christodoulou, John; Bertini, Enrico; Carrozzo, Rosalba

A novel germline mutation in CDK4 codon 24 associated to familial melanoma

2017 - CLINICAL GENETICS

Bottillo, I; La Starza, R; Radio, F C; Molica, C; Pedace, L; Pierini, T; De Bernardo, C; Stingeni, L; Bargiacchi, S; Paiardini, A; Janson, G; Mecucci, C; Grammatico, P

Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology

2017 - CLINICAL GENETICS

Piceci, F.; Morlino, S.; Castori, M.; Buffone, E.; De Luca, A.; Grammatico, P.; Guida, V.

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations

2017 - CLINICAL GENETICS

Ritelli, Marco; Morlino, Silvia; Giacopuzzi, Edoardo; Bernardini, Laura; Torres, Barbara; Santoro, Graziano; Ravasio, Viola; Chiarelli, Nicola; D'Angelantonio, Daniela; Novelli, Antonio; Grammatico, Paola; Colombi, Marina; Castori, Marco

A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis

2016 - CLINICAL GENETICS

Garibaldi, Matteo; Fattori, F; Riva, B; Labasse, C; Brochier, G; Ottaviani, P; Sacconi, S; Vizzaccaro, E; Laschena, F; Romero, N. B; Genazzani, A; Bertini, E; Antonini, Giovanni

Fetal growth patterns in Beckwith-Wiedemann syndrome

2016 - CLINICAL GENETICS

Mussa, A; Russo, S; de Crescenzo, A; Freschi, A; Calzari, L; Maitz, S; Macchiaiolo, M; Molinatto, C; Baldassarre, G; Mariani, M; Tarani, L; Bedeschi, M F; Milani, D; Melis, D; Bartuli, A; Cubellis, M V; Selicorni, A; Silengo, M C; Larizza, L; Riccio, A; Ferrero, G B

Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome

2015 - CLINICAL GENETICS

Ponti, G; Castellsague, E; Ruini, C; Percesepe, A; Tomasi, A