T. Pippucci;A. Maresca;P. Magini;G. Cenacchi;V. Donadio;F. Palombo;V. Papa;A. Incensi;G. Gasparre;M. L. Valentino;C. Preziuso;A. Pisano;M. Ragno;R. Liguori;C. Giordano;C. Tonon;R. Lodi;A. Parmeggiani;V. Carelli;M. Seri, Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy, «EMBO MOLECULAR MEDICINE», 2015, 7, pp. 848 - 858 [Scientific article]Open Access
Kuechler, Alma; Zink, Alexander M.; Wieland, Thomas; Lüdecke, Hermann-Josef; Cremer, Kirsten; Salviati, Leonardo; Magini, Pamela; Najafi, Kimia; Zweier, Christiane; Czeschik, Johanna Christina; Aretz, Stefan; Endele, Sabine; Tamburrino, Federica; Pinato, Claudia; Clementi, Maurizio; Gundlach, Jasmin; Maylahn, Carina; Mazzanti, Laura; Wohlleber, Eva; Schwarzmayr, Thomas; Kariminejad, Roxana; Schlessinger, Avner; Wieczorek, Dagmar; Strom, Tim M.; Novarino, Gaia; Engels, Hartmut, Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome, «EUROPEAN JOURNAL OF HUMAN GENETICS», 2015, 23, pp. 753 - 760 [Scientific article]
Magini P;Pippucci T;Tsai IC;Coppola S;Stellacci E;Bartoletti-Stella A;Turchetti D;Graziano C;Cenacchi G;Neri I;Cordelli DM;Marchiani V;Bergamaschi R;Gasparre G;Neri G;Mazzanti L;Patrizi A;Franzoni E;Romeo G;Bordo D;Tartaglia M;Katsanis N;Seri M, A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype., «HUMAN MOLECULAR GENETICS», 2014, 23, pp. 3607 - 3617 [Scientific article]
Bisulli F;Naldi I;Baldassari S;Magini P;Licchetta L;Castegnaro G;Fabbri M;Stipa C;Ferrari S;Seri M;Gonçalves Silva GE;Tinuper P;Pippucci T, Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31., «EPILEPSIA», 2014, 55, pp. 841 - 848 [Scientific article]
Bonora, E.; Graziano, C.; Minopoli, F.; Bacchelli, E.; Magini, P.; Diquigiovanni, C.; Lomartire, S.; Bianco, F.; Vargiolu, M.; Parchi, P.; Marasco, E.; Mantovani, V.; Rampoldi, L.; Trudu, M.; Parmeggiani, A.; Battaglia, A.; Mazzone, L.; Tortora, G.; Maestrini, E.; Seri, M.; Romeo, G., Corrigendum: Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients(EMBO Mol Med, (2014), 6, (795–809), 10.1002/emmm.201303235), «EMBO MOLECULAR MEDICINE», 2014, 6, pp. 1639 - 1639 [Scientific article]
Magini, Pamela; Bisulli, Francesca; Baldassari, S; Stipa, C; Naldi, I; Licchetta, Laura; Menghi, V; Tinuper, Paolo; Seri, Marco; Pippucci, Tommaso, LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF)., «EPILEPSY RESEARCH», 2014, 108, pp. 972 - 977 [Scientific article]
Bonora E;Graziano C;Minopoli F;Bacchelli E;Magini P;Diquigiovanni C;Lomartire S;Bianco F;Vargiolu M;Parchi P;Marasco E;Mantovani V;Rampoldi L;Trudu M;Parmeggiani A;Battaglia A;Mazzone L;Tortora G;Maestrini E;Seri M;Romeo G;IMGSAC, Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients., «EMBO MOLECULAR MEDICINE», 2014, 6, pp. 795 - 809 [Scientific article]Open Access
Mucciolo, M; Magini, Pamela; Marozza, A; Mongelli, P; Mencarelli, Ma; Hayek, G; Tavalazzi, F; Mari, F; Seri, Marco; Renieri, A; Graziano, Claudio, 9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?, «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2014, 164A, pp. 685 - 690 [Scientific article]
Laura Licchetta; Tommaso Pippucci; Francesca Bisulli; Gaetano Cantalupo; Pamela Magini; Lara Alvisi; Sara Baldassari; Paolo Martinelli; Ilaria Naldi; Nicola Vanni; Rocco Liguori; Marco Seri; Paolo Tinuper, A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype, «EPILEPSIA», 2013, 54, pp. 1298 - 1306 [Scientific article]
Magi A;Tattini L;Cifola I;D'Aurizio R;Benelli M;Mangano E;Battaglia C;Bonora E;Kurg A;Seri M;Magini P;Giusti B;Romeo G;Pippucci T;De Bellis G;Abbate R;Gensini GF, EXCAVATOR: detecting copy number variants from whole-exome sequencing data., «GENOME BIOLOGY», 2013, 14, pp. 1 - 18 [Scientific article]
Graziano C; David M; Magini P; Superti-Furga A; Seri M., An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum., «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2012, 158A, pp. 3211 - 3213 [Scientific article]
Colina M; Pippucci T; Moro MA; Marconi C; Magini P; Ciancio G; Romeo G; Trotta F; Seri M., Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved?, «CLINICAL AND EXPERIMENTAL RHEUMATOLOGY», 2012, 30(3), pp. 451 - 451 [Scientific article]
Magini P; Monica MD; Uzielli ML; Mongelli P; Scarselli G; Gambineri E; Scarano G; Seri M., Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations., «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2012, 158A, pp. 917 - 921 [Scientific article]
Pippucci T.; Benelli M.; Magi A.; Martelli P.L.; Magini P.; Torricelli F.; Casadio R.; Seri M.; Romeo G., EX-HOM (EXome-HOMozygosity): a proof of principle, «HUMAN HEREDITY», 2011, 72, pp. 45 - 53 [Scientific article]
F. Guerra; I. Kurelac; P. Magini; A. Cormio; D. Santini; C. Ceccarelli; G. Gasparre, Mitochondrial DNA genotyping reveals synchronous nature of simultaneously detected endometrial and ovarian cancers, «GYNECOLOGIC ONCOLOGY», 2011, 122(2), pp. 457 - 458 [Scientific article]
