Graziano C, Despang P, Palombo F, Severi G, Posar A, Cassio A, Pippucci T, Isidori F, Matthes J, Bonora E., A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorder., «JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS», 2021, 51, pp. 377 - 381 [Scientific article]Open Access
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]
Koko M.; Krause R.; Sander T.; Bobbili D.R.; Nothnagel M.; May P.; Lerche H.; Epi25 Collaborative; Bisulli F.; Tinuper P.; Pippucci T., Distinct gene-set burden patterns underlie common generalized and focal epilepsies, «EBIOMEDICINE», 2021, 72, Article number: 103588 , pp. 103588 - 103588 [Scientific article]Open Access
Bisulli F.; Rinaldi C.; Pippucci T.; Minardi R.; Baldassari S.; Zenesini C.; Mostacci B.; Fanella M.; Avoni P.; Menghi V.; Caporali L.; Muccioli L.; Tinuper P.; Licchetta L., Epilepsy with auditory features: Contribution of known genes in 112 patients, «SEIZURE», 2021, 85, pp. 115 - 118 [Scientific article]
Motelow, J. E.; Povysil, G.; Dhindsa, R. S.; Stanley, K. E.; Allen, A. S.; Feng, Y. -C. A.; Howrigan, D. P.; Abbott, L. E.; Tashman, K.; Cerrato, F.; Cusick, C.; Singh, T.; Heyne, H.; Byrnes, A. E.; Churchhouse, C.; Watts, N.; Solomonson, M.; Lal, D.; Gupta, N.; Neale, B. M.; Cavalleri, G. L.; Cossette, P.; Cotsapas, C.; De Jonghe, P.; Dixon-Salazar, T.; Guerrini, R.; Hakonarson, H.; Heinzen, E. L.; Helbig, I.; Kwan, P.; Marson, A. G.; Petrovski, S.; Kamalakaran, S.; Sisodiya, S. M.; Stewart, R.; Weckhuysen, S.; Depondt, C.; Dlugos, D. J.; Scheffer, I. E.; Striano, P.; Freyer, C.; Krause, R.; May, P.; Mckenna, K.; Regan, B. M.; Bennett, C. A.; Leu, C.; Leech, S. L.; O'Brien, T. J.; Todaro, M.; Stamberger, H.; Andrade, D. M.; Ali, Q. Z.; Sadoway, T. R.; Krestel, H.; Schaller, A.; Papacostas, S. S.; Kousiappa, I.; Tanteles, G. A.; Christou, Y.; Sterbova, K.; Vlckova, M.; Sedlackova, L.; Lassuthova, P.; Klein, K. M.; Rosenow, F.; Reif, P. S.; Knake, S.; Neubauer, B. A.; Zimprich, F.; Feu, Erratum: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals (The American Journal of Human Genetics (2021) 108(6) (965–982), (S0002929721001403), (10.1016/j.ajhg.2021.04.009)), «AMERICAN JOURNAL OF HUMAN GENETICS», 2021, 108, pp. 2024 - 2024 [Scientific article]
Guerrini, Renzo; Cavallin, Mara; Pippucci, Tommaso; Rosati, Anna; Bisulli, Francesca; Dimartino, Paola; Barba, Carmen; Garbelli, Rita; Buccoliero, Anna Maria; Tassi, Laura; Conti, Valerio, Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?, «NEUROLOGY. GENETICS», 2021, 7, Article number: e540 , pp. e540 - e540 [Scientific article]Open Access
Stevelink R.; Luykx J.J.; Lin B.D.; Leu C.; Lal D.; Smith A.W.; Schijven D.; Carpay J.A.; Rademaker K.; Rodrigues Baldez R.A.; Devinsky O.; Braun K.P.J.; Jansen F.E.; Smit D.J.A.; Koeleman B.P.C.; Bisulli F.; Epi25 Consortium; Tinuper P.; Pippucci T.; International League Against Epilepsy Consortium on Complex Epilepsies, Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations, «EPILEPSIA», 2021, 62, pp. 1518 - 1527 [Scientific article]Open Access
Motelow J.E.; Povysil G.; Dhindsa R.S.; Stanley K.E.; Allen A.S.; Feng Y.-C.A.; Howrigan D.P.; Abbott L.E.; Tashman K.; Cerrato F.; Cusick C.; Singh T.; Heyne H.; Byrnes A.E.; Churchhouse C.; Watts N.; Solomonson M.; Lal D.; Gupta N.; Neale B.M.; Cavalleri G.L.; Cossette P.; Cotsapas C.; De Jonghe P.; Dixon-Salazar T.; Guerrini R.; Hakonarson H.; Heinzen E.L.; Helbig I.; Kwan P.; Marson A.G.; Petrovski S.; Kamalakaran S.; Sisodiya S.M.; Stewart R.; Weckhuysen S.; Depondt C.; Dlugos D.J.; Scheffer I.E.; Striano P.; Freyer C.; Krause R.; May P.; McKenna K.; Regan B.M.; Bennett C.A.; Leu C.; Leech S.L.; O'Brien T.J.; Todaro M.; Stamberger H.; Andrade D.M.; Ali Q.Z.; Sadoway T.R.; Krestel H.; Schaller A.; Papacostas S.S.; Kousiappa I.; Tanteles G.A.; Christou Y.; Sterbova K.; Vlckova M.; Sedlackova L.; Lassuthova P.; Klein K.M.; Rosenow F.; Reif P.S.; Knake S.; Neubauer B.A.; Zimprich F.; Feucht M.; Reinthaler E.M.; Kunz W.S.; Zsurka G.; Surges R.; Baumgartner T.; von Wrede R.; Pendziwiat, Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals, «AMERICAN JOURNAL OF HUMAN GENETICS», 2021, 108, pp. 965 - 982 [Scientific article]
Iovino, Emanuela; Seri, Marco; Pippucci, Tommaso, unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level, «BIOINFORMATICS», 2021, 37, pp. 723 - 725 [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]
Benetti E.; Tita R.; Spiga O.; Ciolfi A.; Birolo G.; Bruselles A.; Doddato G.; Giliberti A.; Marconi C.; Musacchia F.; Pippucci T.; Torella A.; Trezza A.; Valentino F.; Baldassarri M.; Brusco A.; Asselta R.; Bruttini M.; Furini S.; Seri M.; Nigro V.; Matullo G.; Tartaglia M.; Mari F.; Frullanti E.; Fallerini C.; Daga S.; Croci S.; Amitrano S.; Fava F.; Montagnani F.; Di Sarno L.; Tommasi A.; Palmieri M.; Emiliozzi A.; Fabbiani M.; Rossetti B.; Zanelli G.; Bergantini L.; D'Alessandro M.; Cameli P.; Bennet D.; Anedda F.; Marcantonio S.; Scolletta S.; Franchi F.; Mazzei M.A.; Conticini E.; Cantarini L.; Frediani B.; Tacconi D.; Feri M.; Scala R.; Spargi G.; Corridi M.; Nencioni C.; Caldarelli G.P.; Spagnesi M.; Piacentini P.; Bandini M.; Desanctis E.; Canaccini A.; Spertilli C.; Donati A.; Guidelli L.; Croci L.; Verzuri A.; Anemoli V.; Ognibene A.; Vaghi M.; D'Arminio Monforte A.; Merlini E.; Mondelli M.U.; Mantovani S.; Ludovisi S.; Girardis M.; Venturelli S.; Sita M.; Cossarizza A.; An, ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population, «EUROPEAN JOURNAL OF HUMAN GENETICS», 2020, 28, pp. 1602 - 1614 [Scientific article]Open Access
Scala M.; Bianchi A.; Bisulli F.; Coppola A.; Elia M.; Trivisano M.; Pruna D.; Pippucci T.; Canafoglia L.; Lattanzi S.; Franceschetti S.; Nobile C.; Gambardella A.; Michelucci R.; Zara F.; Striano P., Advances in genetic testing and optimization of clinical management in children and adults with epilepsy, «EXPERT REVIEW OF NEUROTHERAPEUTICS», 2020, 20, pp. 251 - 269 [Scientific article]
Magi A.; Giangregorio T.; Semeraro R.; Carangelo G.; Palombo F.; Romeo G.; Seri M.; Pippucci T., AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics, «COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL», 2020, 18, pp. 1956 - 1967 [Scientific article]Open Access
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
Harel, T.; Griffin, J. N.; Arbogast, T.; Monroe, T. O.; Palombo, F.; Martinelli, M.; Seri, M.; Pippucci, T.; Elpeleg, O.; Katsanis, N., Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies, «HUMAN MOLECULAR GENETICS ONLINE», 2020, 29, pp. 1489 - 1497 [Scientific article]
