Magini, Pamela; Palombo, Flavia; Boito, Simona; Lanzoni, Giulia; Mongelli, Patrizia; Rizzuti, Tommaso; Baccarin, Marco; Pippucci, Tommaso; Seri, Marco; Lalatta, Faustina, Prenatal diagnosis of Simpson–Golabi–Behmel syndrome, «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2016, 170, pp. 3258 - 3264 [Scientific article]
Harel, Tamar; Yoon, Wan Hee; Garone, Caterina; Shen, Gu; Coban Akdemir, Zeynep; Eldomery, Mohammad K.; Posey, Jennifer E.; Jhangiani, Shalini N.; Rosenfeld, Jill A.; Cho, Megan T.; Fox, Stephanie; Withers, Marjorie; Brooks, Stephanie M.; Chiang, Theodore; Duraine, Lita; Erdin, Serkan; Yuan, Bo; Shao, Yunru; Moussallem, Elie; Lamperti, Costanza; Donati, Maria A.; Smith, Joshua D.; Mclaughlin, Heather M.; Eng, Christine M.; Walkiewicz, Magdalena; Xia, Fan; Pippucci, Tommaso; Magini, Pamela; Seri, Marco; Zeviani, Massimo; Hirano, Michio; Hunter, Jill V.; Srour, Myriam; Zanigni, Stefano; Lewis, Richard Alan; Muzny, Donna M.; Lotze, Timothy E.; Boerwinkle, Eric; Gibbs, Richard A.; Hickey, Scott E.; Graham, Brett H.; Yang, Yaping; Buhas, Daniela; Martin, Donna M.; Potocki, Lorraine; Graziano, Claudio; Bellen, Hugo J.; Lupski, James R., Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes, «AMERICAN JOURNAL OF HUMAN GENETICS», 2016, 99, pp. 831 - 845 [Scientific article]Open Access
Marconi, Caterina; Di Buduo, Christian A.; Barozzi, Serena; Palombo, Flavia; Pardini, Simonetta; Zaninetti, Carlo; Pippucci, Tommaso; Noris, Patrizia; Balduini, Alessandra; Seri, Marco; Pecci, Alessandro, SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia, «THROMBOSIS AND HAEMOSTASIS», 2016, 115, pp. 1076 - 1079 [Comment or similar]
Pippucci, T.; Licchetta, L.; Baldassari, S.; Palombo, F.; Menghi, V.; D'Aurizio, R.; Leta, C.; Stipa, C.; Boero, G.; D'Orsi, G.; Magi, A.; Scheffer, I.; Seri, M.; Tinuper, P.; Bisulli, F., Epilepsy with auditory features: A heterogeneous clinico-molecular disease, «NEUROLOGY. GENETICS», 2015, 1, Article number: e5 , pp. 1 - 8 [Scientific article]Open Access
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
Bonora, E; Bianco, F; Cordeddu, L; Bamshad, M; Francescatto, L; Dowless, D; Stanghellini, V; Cogliandro, Rf; Lindberg, G; Mungan, Z; Cefle, K; Ozcelik, T; Palanduz, S; Ozturk, S; Gedikbasi, A; Gori, A; Pippucci, T; Graziano, C; Volta, U; Caio, G; Barbara, G; D'Amato, M; Seri, M; Katsanis, N; Romeo, G; De Giorgio, R., Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction., «GASTROENTEROLOGY», 2015, 148, pp. 771 - 782 [Scientific article]Open Access
Hildebrand, M. S.; Tankard, R.; Gazina, E. V.; Damiano, J. A.; Lawrence, K. M.; Dahl, H. H. M.; Regan, B. M.; Shearer, A. E.; Smith, R. J. H.; Marini, C.; Guerrini, R.; Labate, A.; Gambardella, A.; Tinuper, Paolo; Licchetta, Laura; Baldassari, S.; Bisulli, Francesca; Pippucci, T.; Scheffer, I. E.; Reid, C. A.; Petrou, S.; Bahlo, M.; Berkovic, S. F., PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy, «ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY», 2015, 2, pp. 821 - 830 [Scientific article]Open Access
Graziano, C; Wischmeijer, TITIA ANITA; Pippucci, Tommaso; Fusco, C; Diquigiovanni, Chiara; Nõukas, M; Sauk, M; Kurg, A; Rivieri, F; Blau, N; Hoffmann, Gf; Chaubey, A; Schwartz, Ce; Romeo, Giovanni; Bonora, Elena; Garavelli, L; Seri, Marco, Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant., «GENE», 2015, 559, pp. 144 - 148 [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]
A. Magi;L. Tattini;F. Palombo;M. Benelli;A. Gialluisi;B. Giusti;R. Abbate;M. Seri;G. F. Gensini;G. Romeo;T. Pippucci, H3M2: detection of runs of homozygosity from whole-exome sequencing data, «BIOINFORMATICS», 2014, 30, pp. 2852 - 2859 [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]
Marconi C; Brunamonti Binello P; Badiali G; Caci E; Cusano R; Garibaldi J; Pippucci T; Merlini A; Marchetti C; Rhoden KJ; Galietta LJ; Lalatta F; Balbi P; Seri M., A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree., «EUROPEAN JOURNAL OF HUMAN GENETICS», 2013, 21, pp. 613 - 619 [Scientific article]
T. Pippucci; A. Parmeggiani; F. Palombo; A. Maresca; A. Angius;
L. Crisponi; F. Cucca; R. Liguori; M. L. Valentino; M. Seri; V. Carelli, A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy., «PLOS ONE», 2013, 8, Article number: e82154 , pp. 1 - 7 [Scientific article]Open Access
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]
