Severi, Giulia; Ambrosini, Enrico; Caramanna, Luca; Monti, Luigi; Magini, Pamela; Innella, Giovanni, Familial DMRT1-related non-obstructive azoospermia: a case report, «JOURNAL OF ASSISTED REPRODUCTION AND GENETICS», 2024, 0, pp. 1 - 5 [Scientific article]
Olivucci, Giulia; Iovino, Emanuela; Innella, Giovanni; Turchetti, Daniela; Pippucci, Tommaso; Magini, Pamela, Long read sequencing on its way to the routine diagnostics of genetic diseases, «FRONTIERS IN GENETICS», 2024, 15, pp. - - - [Scientific article]Open Access
Barbero, Giovanna; Zuntini, Roberta; Magini, Pamela; Desiderio, Laura; Bonaguro, Michela; Perrone, Anna Myriam; Rubino, Daniela; Grippa, Mina; De Leo, Antonio; Ceccarelli, Claudio; Godino, Lea; Miccoli, Sara; Ferrari, Simona; Santini, Donatella; De Iaco, Pierandrea; Zamagni, Claudio; Innella, Giovanni; Turchetti, Daniela, Characterization of BRCA Deficiency in Ovarian Cancer, «CANCERS», 2023, 15, Article number: 1530 , pp. 1 - 18 [Scientific article]Open Access
Giulia Olivucci, Giulia Severi, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Claudio Graziano, Marco seri, Pamela Magini, Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield, «EUROPEAN JOURNAL OF HUMAN GENETICS», 2023, 31, pp. 459 - 459 [Abstract]
Marconi, Caterina; Pecci, Alessandro; Palombo, Flavia; Melazzini, Federica; Bottega, Roberta; Nardi, Elena; Bozzi, Valeria; Faleschini, Michela; Barozzi, Serena; Giangregorio, Tania; Magini, Pamela; Balduini, Carlo L; Savoia, Anna; Seri, Marco; Noris, Patrizia; Pippucci, Tommaso, Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup, «HAEMATOLOGICA», 2023, 108, pp. 1909 - 1919 [Scientific article]Open Access
Gozzelino L.; Kochlamazashvili G.; Baldassari S.; Mackintosh A.I.; Licchetta L.; Iovino E.; Liu Y.-C.; Bennett C.A.; Bennett M.F.; Damiano J.A.; Zsurka G.; Marconi C.; Giangregorio T.; Magini P.; Kuijpers M.; Maritzen T.; Norata G.D.; Baulac S.; Canafoglia L.; Seri M.; Tinuper P.; Scheffer I.E.; Bahlo M.; Berkovic S.F.; Hildebrand M.S.; Kunz W.S.; Giordano L.; Bisulli F.; Martini M.; Haucke V.; Hirsch E.; Pippucci T., Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy, «BRAIN», 2022, 145, pp. 2313 - 2331 [Scientific article]Open Access
Posar, A.; Visconti, P.; Magini, P.; Ambrosini, E.; Severi, G.; Seri, M., Deletion of 4q13.2q21.1 chromosome and autism spectrum disorder, «JOURNAL OF PEDIATRIC NEUROSCIENCES», 2022, 17, pp. 131 - 134 [Scientific article]
Hirsch, Naama; Dahan, Idit; D'haene, Eva; Avni, Matan; Vergult, Sarah; Vidal-García, Marta; Magini, Pamela; Graziano, Claudio; Severi, Giulia; Bonora, Elena; Nardone, Anna Maria; Brancati, Francesco; Fernández-Jaén, Alberto; Rory, Olson J; Hallgrímsson, Benedikt; Birnbaum, Ramon Y, HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations, «GENOME RESEARCH», 2022, 32, pp. 1242 - 1253 [Scientific article]Open Access
Pelleri, Maria Chiara; Locatelli, Chiara; Mattina, Teresa; Bonaglia, Maria Clara; Piazza, Francesca; Magini, Pamela; Antonaros, Francesca; Ramacieri, Giuseppe; Vione, Beatrice; Vitale, Lorenza; Seri, Marco; Strippoli, Pierluigi; Cocchi, Guido; Piovesan, Allison; Caracausi, Maria, Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association, «BMC MEDICAL GENOMICS», 2022, 15, Article number: 266 , pp. 1 - 12 [Scientific article]Open Access
Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC, Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E., An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder., «JOURNAL OF CELLULAR AND MOLECULAR MEDICINE», 2021, 25, pp. 2459 - 2470 [Scientific article]Open Access
Zama D.; Muratore E.; Giannetti A.; Neri I.; Conti F.; Magini P.; Ferrari S.; Pession A., Case Report: Hereditary Alpha Tryptasemia in Children: A Pediatric Case Series and a Brief Overview of Literature, «FRONTIERS IN PEDIATRICS», 2021, 9, Article number: 716786 , pp. 1 - 9 [Scientific article]Open Access
Innella G.; Greco D.; Carli D.; Magini P.; Giorgio E.; Galesi O.; Ferrero G.B.; Romano C.; Brusco A.; Graziano C., Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5), «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2021, 185, pp. 608 - 613 [Scientific article]
Usmani, Muhammad A; Ahmed, Zubair M; Magini, Pamela; Pienkowski, Victor Murcia; Rasmussen, Kristen J; Hernan, Rebecca; Rasheed, Faiza; Hussain, Mureed; Shahzad, Mohsin; Lanpher, Brendan C; Niu, Zhiyv; Lim, Foong-Yen; Pippucci, Tommaso; Ploski, Rafal; Kraus, Verena; Matuszewska, Karolina; Palombo, Flavia; Kianmahd, Jessica; Martinez-Agosto, Julian A; Lee, Hane; Colao, Emma; Motazacker, M Mahdi; Brigatti, Karlla W; Puffenberger, Erik G; Riazuddin, S Amer; Gonzaga-Jauregui, Claudia; Chung, Wendy K; Wagner, Matias; Schultz, Matthew J; Seri, Marco; Kievit, Anneke J A; Perrotti, Nicola; Wassink-Ruiter, J S Klein; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima, De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy, «AMERICAN JOURNAL OF HUMAN GENETICS», 2021, 108, pp. 1330 - 1341 [Scientific article]
Dimartino P.; Mariani V.; Marconi C.; Minardi R.; Bramerio M.; Licchetta L.; Menghi V.; Morandi L.; Magini P.; Mongelli P.; Cardinale F.; Seri M.; Tinuper P.; Tassi L.; Pippucci T.; Bisulli F., Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes, «MOLECULAR DIAGNOSIS & THERAPY», 2020, 24, pp. 571 - 577 [Scientific article]
Palombo F.; Graziano C.; Al Wardy N.; Nouri N.; Marconi C.; Magini P.; Severi G.; La Morgia C.; Cantalupo G.; Cordelli D.M.; Gangarossa S.; Al Kindi M.N.; Al Khabouri M.; Salehi M.; Giorgio E.; Brusco A.; Pisani F.; Romeo G.; Carelli V.; Pippucci T.; Seri M., Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East, «HUMAN GENETICS», 2020, 139, pp. 1429 - 1441 [Scientific article]Open Access
