Molecular Effects of Mutations in Human Genetic Diseases

por Leonardi, Emanuela, Savojardo, Castrense, Minervini, Giovanni
Publicado 2022

Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family

por Gasparini, Alessandra, Tosatto, Silvio C. E., Murgia, Alessandra, Leonardi, Emanuela
Publicado 2017

INGA: protein function prediction combining interaction networks, domain assignments and sequence similarity

por Piovesan, Damiano, Giollo, Manuel, Leonardi, Emanuela, Ferrari, Carlo, Tosatto, Silvio C.E.
Publicado 2015

A Computational Model of the LGI1 Protein Suggests a Common Binding Site for ADAM Proteins

por Leonardi, Emanuela, Andreazza, Simonetta, Vanin, Stefano, Busolin, Giorgia, Nobile, Carlo, Tosatto, Silvio C. E.
Publicado 2011

BOOGIE: Predicting Blood Groups from High Throughput Sequencing Data

por Giollo, Manuel, Minervini, Giovanni, Scalzotto, Marta, Leonardi, Emanuela, Ferrari, Carlo, Tosatto, Silvio C. E.
Publicado 2015

VHLdb: A database of von Hippel-Lindau protein interactors and mutations

por Tabaro, Francesco, Minervini, Giovanni, Sundus, Faiza, Quaglia, Federica, Leonardi, Emanuela, Piovesan, Damiano, Tosatto, Silvio C. E.
Publicado 2016

Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors

por Dazzo, Emanuela, Leonardi, Emanuela, Belluzzi, Elisa, Malacrida, Sandro, Vitiello, Libero, Greggio, Elisa, Tosatto, Silvio C. E., Nobile, Carlo
Publicado 2016

2mit, an Intronic Gene of Drosophila melanogaster timeless2, Is Involved in Behavioral Plasticity

por Baggio, Francesca, Bozzato, Andrea, Benna, Clara, Leonardi, Emanuela, Romoli, Ottavia, Cognolato, Moira, Tosatto, Silvio C. E., Costa, Rodolfo, Sandrelli, Federica
Publicado 2013

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”

por Leonardi, Emanuela, Bettella, Elisa, Pelizza, Maria Federica, Aspromonte, Maria Cristina, Polli, Roberta, Boniver, Clementina, Sartori, Stefano, Milani, Donatella, Murgia, Alessandra
Publicado 2020

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

por Leonardi, Emanuela, Bellini, Mariagrazia, Aspromonte, Maria C., Polli, Roberta, Mercante, Anna, Ciaccio, Claudia, Granocchio, Elisa, Bettella, Elisa, Donati, Ilaria, Cainelli, Elisa, Boni, Stefania, Sartori, Stefano, Pantaleoni, Chiara, Boniver, Clementina, Murgia, Alessandra
Publicado 2020

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

por Godler, David E., Ling, Ling, Gamage, Dinusha, Baker, Emma K., Bui, Minh, Field, Michael J., Rogers, Carolyn, Butler, Merlin G., Murgia, Alessandra, Leonardi, Emanuela, Polli, Roberta, Schwartz, Charles E., Skinner, Cindy D., Alliende, Angelica M., Santa Maria, Lorena, Pitt, James, Greaves, Ronda, Francis, David, Oertel, Ralph, Wang, Min, Simons, Cas, Amor, David J.
Publicado 2022

CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs)

por Aspromonte, Maria Cristina, Conte, Alessio Del, Zhu, Shaowen, Tan, Wuwei, Shen, Yang, Zhang, Yexian, Li, Qi, Wang, Maggie Haitian, Babbi, Giulia, Bovo, Samuele, Martelli, Pier Luigi, Casadio, Rita, Althagafi, Azza, Toonsi, Sumyyah, Kulmanov, Maxat, Hoehndorf, Robert, Katsonis, Panagiotis, Williams, Amanda, Lichtarge, Olivier, Xian, Su, Surento, Wesley, Pejaver, Vikas, Mooney, Sean D., Sunderam, Uma, Srinivasan, Rajgopal, Murgia, Alessandra, Piovesan, Damiano, Tosatto, Silvio C. E., Leonardi, Emanuela
Publicado 2023

DisProt 7.0: a major update of the database of disordered proteins

por Piovesan, Damiano, Tabaro, Francesco, Mičetić, Ivan, Necci, Marco, Quaglia, Federica, Oldfield, Christopher J., Aspromonte, Maria Cristina, Davey, Norman E., Davidović, Radoslav, Dosztányi, Zsuzsanna, Elofsson, Arne, Gasparini, Alessandra, Hatos, András, Kajava, Andrey V., Kalmar, Lajos, Leonardi, Emanuela, Lazar, Tamas, Macedo-Ribeiro, Sandra, Macossay-Castillo, Mauricio, Meszaros, Attila, Minervini, Giovanni, Murvai, Nikoletta, Pujols, Jordi, Roche, Daniel B., Salladini, Edoardo, Schad, Eva, Schramm, Antoine, Szabo, Beata, Tantos, Agnes, Tonello, Fiorella, Tsirigos, Konstantinos D., Veljković, Nevena, Ventura, Salvador, Vranken, Wim, Warholm, Per, Uversky, Vladimir N., Dunker, A. Keith, Longhi, Sonia, Tompa, Peter, Tosatto, Silvio C.E.
Publicado 2017

DisProt 7.0: a major update of the database of disordered proteins

por Piovesan, Damiano, Tabaro, Francesco, Mičetić, Ivan, Necci, Marco, Quaglia, Federica, Oldfield, Christopher J., Aspromonte, Maria Cristina, Davey, Norman E., Davidović, Radoslav, Dosztányi, Zsuzsanna, Elofsson, Arne, Gasparini, Alessandra, Hatos, András, Kajava, Andrey V., Kalmar, Lajos, Leonardi, Emanuela, Lazar, Tamas, Macedo-Ribeiro, Sandra, Macossay-Castillo, Mauricio, Meszaros, Attila, Minervini, Giovanni, Murvai, Nikoletta, Pujols, Jordi, Roche, Daniel B., Salladini, Edoardo, Schad, Eva, Schramm, Antoine, Szabo, Beata, Tantos, Agnes, Tonello, Fiorella, Tsirigos, Konstantinos D., Veljković, Nevena, Ventura, Salvador, Vranken, Wim, Warholm, Per, Uversky, Vladimir N., Dunker, A. Keith, Longhi, Sonia, Tompa, Peter, Tosatto, Silvio C.E.
Publicado 2017

DisProt in 2022: improved quality and accessibility of protein intrinsic disorder annotation

por Quaglia, Federica, Mészáros, Bálint, Salladini, Edoardo, Hatos, András, Pancsa, Rita, Chemes, Lucía B, Pajkos, Mátyás, Lazar, Tamas, Peña-Díaz, Samuel, Santos, Jaime, Ács, Veronika, Farahi, Nazanin, Fichó, Erzsébet, Aspromonte, Maria Cristina, Bassot, Claudio, Chasapi, Anastasia, Davey, Norman E, Davidović, Radoslav, Dobson, Laszlo, Elofsson, Arne, Erdős, Gábor, Gaudet, Pascale, Giglio, Michelle, Glavina, Juliana, Iserte, Javier, Iglesias, Valentín, Kálmán, Zsófia, Lambrughi, Matteo, Leonardi, Emanuela, Longhi, Sonia, Macedo-Ribeiro, Sandra, Maiani, Emiliano, Marchetti, Julia, Marino-Buslje, Cristina, Mészáros, Attila, Monzon, Alexander Miguel, Minervini, Giovanni, Nadendla, Suvarna, Nilsson, Juliet F, Novotný, Marian, Ouzounis, Christos A, Palopoli, Nicolás, Papaleo, Elena, Pereira, Pedro José Barbosa, Pozzati, Gabriele, Promponas, Vasilis J, Pujols, Jordi, Rocha, Alma Carolina Sanchez, Salas, Martin, Sawicki, Luciana Rodriguez, Schad, Eva, Shenoy, Aditi, Szaniszló, Tamás, Tsirigos, Konstantinos D, Veljkovic, Nevena, Parisi, Gustavo, Ventura, Salvador, Dosztányi, Zsuzsanna, Tompa, Peter, Tosatto, Silvio C E, Piovesan, Damiano
Publicado 2021

DisProt: intrinsic protein disorder annotation in 2020

por Hatos, András, Hajdu-Soltész, Borbála, Monzon, Alexander M, Palopoli, Nicolas, Álvarez, Lucía, Aykac-Fas, Burcu, Bassot, Claudio, Benítez, Guillermo I, Bevilacqua, Martina, Chasapi, Anastasia, Chemes, Lucia, Davey, Norman E, Davidović, Radoslav, Dunker, A Keith, Elofsson, Arne, Gobeill, Julien, Foutel, Nicolás S González, Sudha, Govindarajan, Guharoy, Mainak, Horvath, Tamas, Iglesias, Valentin, Kajava, Andrey V, Kovacs, Orsolya P, Lamb, John, Lambrughi, Matteo, Lazar, Tamas, Leclercq, Jeremy Y, Leonardi, Emanuela, Macedo-Ribeiro, Sandra, Macossay-Castillo, Mauricio, Maiani, Emiliano, Manso, José A, Marino-Buslje, Cristina, Martínez-Pérez, Elizabeth, Mészáros, Bálint, Mičetić, Ivan, Minervini, Giovanni, Murvai, Nikoletta, Necci, Marco, Ouzounis, Christos A, Pajkos, Mátyás, Paladin, Lisanna, Pancsa, Rita, Papaleo, Elena, Parisi, Gustavo, Pasche, Emilie, Barbosa Pereira, Pedro J, Promponas, Vasilis J, Pujols, Jordi, Quaglia, Federica, Ruch, Patrick, Salvatore, Marco, Schad, Eva, Szabo, Beata, Szaniszló, Tamás, Tamana, Stella, Tantos, Agnes, Veljkovic, Nevena, Ventura, Salvador, Vranken, Wim, Dosztányi, Zsuzsanna, Tompa, Peter, Tosatto, Silvio C E, Piovesan, Damiano
Publicado 2020

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

por Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, Klee, Eric W.
Publicado 2022

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

por Gehin, Charlotte, Lone, Museer A., Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M., Gerkes, Erica H., Stegmann, Alexander P.A., 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 B.R., 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 Marjia, McCabe, Brian D., De Los Rios, Paolo, Hornemann, Thorsten, D’Angelo, Giovanni, Gennarino, Vincenzo A.
Publicado 2023