LEONARDI, EMANUELA
LEONARDI, EMANUELA
Dipartimento di Scienze Biomediche - DSB
A computational model of the LGI1 protein suggests a common binding site for ADAM proteins
2011 Leonardi, Emanuela; Andreazza, A; Vanin, Stefano; Busolin, Giorgia; Nobile, C; Tosatto, Silvio
A Missense de Novo Variant in the CASK -interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia
2021 Ciaccio, C.; Leonardi, E.; Polli, R.; Murgia, A.; D'Arrigo, S.; Granocchio, E.; Chiapparini, L.; Pantaleoni, C.; Esposito, S.
A novel deletion involving the Connexin-30 gene, del(GJB6-D13S1854) found in trans with mutations in the GJB2 gene (Connexin 26) in subjects with DFNB1 non syndromic hearing impairment
2005 DEL CASTILLO, Fj; RODRIGUES BALLESTEROS, M; Alvarez, A; Hutchin, T; Leonardi, E; Araiez, H; Brownstein, Z; Avenarius, Mr; Marlin, S; Panda, A; Shahin, H; Siemering, Kr; Wuyts, W; Aguirre, L; Martin, Y; MORENO PELAYO, M; Villamar, M; Avraham, Kb; Dahl, Hhm; Kanaan, M; Nance, We; Petit, C; Smith, Rjh; VAN CAMP, G; Murgia, Alessandra; Moreno, F; DEL CASTILLO, I.
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
2013 Gregianin, Elisa; Vazza, Giovanni; Scaramel, E; Boaretto, Francesca; Vettori, Andrea; Leonardi, Emanuela; Tosatto, Silvio; Manara, R; Pegoraro, Elena; Mostacciuolo, MARIA LUISA
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)
2020 Leonardi, E.; Bellini, M.; Aspromonte, M. C.; Polli, R.; Mercante, A.; Ciaccio, C.; Granocchio, E.; Bettella, E.; Donati, I.; Cainelli, E.; Boni, S.; Sartori, S.; Pantaleoni, C.; Boniver, C.; Murgia, A.
A Novel WT1 Gene Mutation in a Three-Generation Family with Progressive Isolated Focal Segmental Glomerulosclerosis
2010 Benetti, Elisa; Caridi, G; Malaventura, C; Dagnino, M; Leonardi, Emanuela; Artifoni, Lina; Ghiggeri, Gm; Tosatto, Silvio; Murer, L.
Adding structural information to the von Hippel-Lindau (VHL) tumor suppressor interaction network
2009 Leonardi, Emanuela; Murgia, Alessandra; Tosatto, Silvio
Allele drop out and MECP2 genetic testing
2012 Bettella, Elisa; Polli, Roberta; Leonardi, Emanuela; Murgia, Alessandra
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants
2019 Kasak, Laura; Bakolitsa, Constantina; Hu, Zhiqiang; Yu, Changhua; Rine, Jasper; Dimster-Denk, Dago F; Pandey, Gaurav; De Baets, Greet; Bromberg, Yana; Cao, Chen; Capriotti, Emidio; Casadio, Rita; Van Durme, Joost; Giollo, Manuel; Karchin, Rachel; Katsonis, Panagiotis; Leonardi, Emanuela; Lichtarge, Olivier; Martelli, Pier Luigi; Masica, David; Mooney, Sean D; Olatubosun, Ayodeji; Radivojac, Predrag; Rousseau, Frederic; Pal, Lipika R; Savojardo, Castrense; Schymkowitz, Joost; Thusberg, Janita; Tosatto, Silvio C E; Vihinen, Mauno; Väliaho, Jouni; Repo, Susanna; Moult, John; Brenner, Steven E; Friedberg, Iddo
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge
2019 Carraro, M.; Monzon, A. M.; Chiricosta, Luigi; Reggiani, Francesco; Aspromonte, M. C.; Bellini, M.; Pagel, K.; Jiang, Y.; Radivojac, P.; Kundu, K.; Pal, L. R.; Yin, Y.; Limongelli, I.; Andreoletti, G.; Moult, J.; Wilson, S. J.; Katsonis, P.; Lichtarge, O.; Chen, J.; Wang, Y.; Hu, Z.; Brenner, S. E.; Ferrari, C.; Murgia, A.; Tosatto, S. C. E.; Leonardi, E.
Bioinformatic Analysis of Protein Mutations
2012 Leonardi, Emanuela
BOOGIE: Predicting Blood Groups from High Throughput Sequencing Data
2015 Giollo, Manuel; Minervini, Giovanni; Scalzotto, Marta; Leonardi, Emanuela; Ferrari, Carlo; Tosatto, Silvio
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
2012 Bello, Luca; Melacini, P; Pezzani, R; D'Amico, A; Piva, L; Leonardi, E; Torella, A; Soraru', Gianni; Palmieri, Arianna; Smaniotto, G; Gavassini, Bf; Vianello, A; Nigro, V; Bertini, E; Angelini, C; Tosatto, Silvio; Pegoraro, Elena
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
2023 Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marija; Mccabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
2019 Aspromonte, M. C.; Bellini, Mariagrazia; Gasparini, A.; Carraro, M.; Bettella, E.; Polli, R.; Cesca, F.; Bigoni, S.; Boni, S.; Carlet, O.; Negrin, S.; Mammi, I.; Milani, Duccio; Peron, A.; Sartori, S.; Toldo, I.; Soli, F.; Turolla, L.; Stanzial, F.; Benedicenti, F.; MARINO BUSLJE, CRISTINA ESTER; Tosatto, S. C. E.; Murgia, A.; Leonardi, E.
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
2020 1, Gabriella Vera; 2, Arthur Sorlin; 2, Geoffroy Delplancq; 1, François Lecoquierre; 3, Marie Brasseur-Daudruy; 4, Florence Petit; 5, Thomas Smol; 6, Alban Ziegler; 6, Dominique Bonneau; 6, Estelle Colin; 7, Sandra Mercier; 7, Benjamin Cogné; 7, Stéphane Bézieau; 8, Patrick Edery; 8, Gaetan Lesca; 8, Nicolas Chatron; 9, Isabelle Sabatier; Duban-Bedu 10, Bénédicte; Colson 11, Cindy; Piton 12, Amélie; Durand 12, Benjamin; Capri 13, Yline; Perrin 13, Laurence; Wiesener 14, Antje; Zweier 14, Christiane; Maroofian 15, Reza; J Carroll 16, Christopher; Galehdari 17, Hamid; Mazaheri 18, Neda; Callewaert 19, Bert; Giulianno 20, Fabienne; Zaafrane-Khachnaoui 21, Khaoula; Buchert-Lo 22, Rebecca; Haack 22, Tobias; Magg 23, Janine; Rieß 22, Angelika; Blandfort 24, Maria; Waldmüller 22, Stephan; Horber 23, Veronka; Leonardi, Emanuela; Polli, Roberta; Turolla 26, Licia; Murgia, Alessandra; 1, Thierry Frebourg; Sophie Lebre 28, Anne; 1, Gaël Nicolas; 1, Pascale Saugier-Veber; Guerrot 29, Anne-Marie
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features
2018 Leonardi, Emanuela; Dazzo, Emanuela; Aspromonte, MARIA CRISTINA; Tabaro, Francesco; Pascarelli, Stefano; Tosatto, Silvio C. E.; Michelucci, Roberto; Murgia, Alessandra; Nobile, Carlo
Connexin 36 35delG does not represent a mutational hot spot.
2003 Rothrock, Cr; Murgia, Alessandra; Artorato, E; Leonardi, E; Wei, S; Lebeis, Se; Yu, Le; Elfenbein, Jl; Fisher, Ra; Friderici, K.
Critical assessment of protein intrinsic disorder prediction
2021 Necci, M.; Piovesan, D.; Hoque, M. T.; Walsh, I.; Iqbal, S.; Vendruscolo, M.; Sormanni, P.; Wang, C.; Raimondi, D.; Sharma, R.; Zhou, Y.; Litfin, T.; Galzitskaya, O. V.; Lobanov, M. Y.; Vranken, W.; Wallner, B.; Mirabello, C.; Malhis, N.; Dosztanyi, Z.; Erdos, G.; Meszaros, B.; Gao, J.; Wang, K.; Hu, G.; Wu, Z.; Sharma, A.; Hanson, J.; Paliwal, K.; Callebaut, I.; Bitard-Feildel, T.; Orlando, G.; Peng, Z.; Xu, J.; Wang, S.; Jones, D. T.; Cozzetto, D.; Meng, F.; Yan, J.; Gsponer, J.; Cheng, J.; Wu, T.; Kurgan, L.; Promponas, V. J.; Tamana, S.; Marino-Buslje, C.; Martinez-Perez, E.; Chasapi, A.; Ouzounis, C.; Dunker, A. K.; Kajava, A. V.; Leclercq, J. Y.; Aykac-Fas, B.; Lambrughi, M.; Maiani, E.; Papaleo, E.; Chemes, L. B.; Alvarez, L.; Gonzalez-Foutel, N. S.; Iglesias, V.; Pujols, J.; Ventura, S.; Palopoli, N.; Benitez, G. I.; Parisi, G.; Bassot, C.; Elofsson, A.; Govindarajan, S.; Lamb, J.; Salvatore, M.; Hatos, A.; Monzon, A. M.; Bevilacqua, M.; Micetic, I.; Minervini, G.; Paladin, L.; Quaglia, F.; Leonardi, E.; Davey, N.; Horvath, T.; Kovacs, O. P.; Murvai, N.; Pancsa, R.; Schad, E.; Szabo, B.; Tantos, A.; Macedo-Ribeiro, S.; Manso, J. A.; Pereira, P. J. B.; Davidovic, R.; Veljkovic, N.; Hajdu-Soltesz, B.; Pajkos, M.; Szaniszlo, T.; Guharoy, M.; Lazar, T.; Macossay-Castillo, M.; Tompa, P.; Tosatto, S. C. E.
Crohn disease risk prediction-Best practices and pitfalls with exome data
2017 Giollo, Manuel; Jones, David T; Carraro, Marco; Leonardi, Emanuela; Ferrari, Carlo; Tosatto, Silvio