ASPROMONTE, MARIA CRISTINA
ASPROMONTE, MARIA CRISTINA
Dipartimento di Scienze Biomediche - DSB
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.
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.
Best practices for the manual curation of intrinsically disordered proteins in DisProt
2024 Quaglia, Federica; Chasapi, Anastasia; Nugnes, Maria Victoria; Aspromonte, Maria Cristina; Leonardi, Emanuela; Piovesan, Damiano; Tosatto, Silvio C E
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.
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
DisProt 7.0: A major update of the database of disordered proteins
2017 Piovesan, Damiano; Tabaro, Francesco; Micetic, 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
DisProt in 2022: improved quality and accessibility of protein intrinsic disorder annotation
2022 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
DisProt in 2024: improving function annotation of intrinsically disordered proteins
2023 Aspromonte, MARIA CRISTINA; Nugnes, MARIA VICTORIA; Quaglia, Federica; Bouhraoua, KAMEL EDDINE ADEL; Consortium, Disprot; Tosatto, Silvio; Piovesan, Damiano
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing
2018 Aspromonte, MARIA CRISTINA; Gasparini, Alessandra; Polli, Roberta; Bettella, Elisa; Cesca, Federica; Carraro, Marco; Sartori, Stefano; Tosatto, Silvio C. E.; Murgia, Alessandra; Leonardi, Emanuela
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations
2023 Leonardi, Emanuela; Aspromonte, MARIA CRISTINA; Drongitis, Denise; Bettella, Elisa; Verrillo, Lucia; Polli, Roberta; Mcentagart, Meriel; Licchetta, Laura; Dilena, Robertino; D'Arrigo, Stefano; Ciaccio, Claudia; Esposito, Silvia; Leuzzi, Vincenzo; Torella, Annalaura; Baldo, Demetrio; Lonardo, Fortunato; Bonato, Giulia; Pellegrin, Serena; Stanzial, Franco; Posmyk, Renata; Kaczorowska, Ewa; Carecchio, Miryam; Gos, Monika; Rzońca-Niewczas, Sylwia; Giuseppina Miano, Maria; Murgia, Alessandra
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype
2020 Cesca, F.; Bettella, E.; Polli, R.; Leonardi, E.; Aspromonte, M. C.; Sicilian, B.; Stanzial, F.; Benedicenti, F.; Sensi, A.; Ciorba, A.; Bigoni, S.; Cama, E.; Scimemi, P.; Santarelli, R.; Murgia, A.
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits
2018 Aspromonte, M. C.; Gasparini, Alessandra; Polli, Roberta; Bettella, Elisa; Cesca, Federica; Bellini, M.; Benedicenti, Francesco; Boni, Stefania; Carlet, Ombretta; Rivieri, F.; Vittorini, R.; Sartori, Stefano; Carraro, M.; Tosatto, S. C. E.; Murgia, A.; Leonardi, E.
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”
2020 Leonardi, E.; Bettella, E.; Pelizza, M. F.; Aspromonte, M. C.; Polli, R.; Boniver, C.; Sartori, S.; Milani, D.; Murgia, A.
MobiDB: 10 years of intrinsically disordered proteins
2023 Piovesan, Damiano; Del Conte, Alessio; Clementel, Damiano; Monzon, Alexander Miguel; Bevilacqua, Martina; Aspromonte, Maria Cristina; Iserte, Javier A; Orti, Fernando E; Marino-Buslje, Cristina; Tosatto, Silvio C E
PPP2R5D variants in patients with variable neurodevelopmental phenotype
2020 Aspromonte, MARIA CRISTINA; Leonardi, Emanuela; Polli, Roberta; Bettella, Elisa; Cameran, Marilena; Guerrini, Renzo; Murgia, Alessandra
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS
2016 Aspromonte, MARIA CRISTINA; Gasparini, Alessandra; Carraro, Marco; Bettella, Elisa; Polli, Roberta; Cesca, Federica; Sartori, Stefano; Toldo, Irene; Bigoni, Stefania; Peron, Angela; Stanzial, Franco; Tosatto, Silvio C. E.; Murgia, Alessandra; Leonardi, Emanuela
The Gene Ontology Knowledgebase in 2023
2023 Aleksander, Suzi A; Balhoff, James; Carbon, Seth; Cherry, J Michael; Drabkin, Harold J; Ebert, Dustin; Feuermann, Marc; Gaudet, Pascale; Harris, Nomi L; Hill, David P; Lee, Raymond; Mi, Huaiyu; Moxon, Sierra; Mungall, Christopher J; Muruganugan, Anushya; Mushayahama, Tremayne; Sternberg, Paul W; Thomas, Paul D; Van Auken, Kimberly; Ramsey, Jolene; Siegele, Deborah A; Chisholm, Rex L; Fey, Petra; Aspromonte, Maria Cristina; Nugnes, Maria Victoria; Quaglia, Federica; Tosatto, Silvio; Giglio, Michelle; Nadendla, Suvarna; Antonazzo, Giulia; Attrill, Helen; dos Santos, Gil; Marygold, Steven; Strelets, Victor; Tabone, Christopher J; Thurmond, Jim; Zhou, Pinglei; Ahmed, Saadullah H; Asanitthong, Praoparn; Buitrago, Diana Luna; Erdol, Meltem N; Gage, Matthew C; Kadhum, Mohamed Ali; Li, Kan Yan Chloe; Long, Miao; Michalak, Aleksandra; Pesala, Angeline; Pritazahra, Armalya; Saverimuttu, Shirin C C; Su, Renzhi; Thurlow, Kate E; Lovering, Ruth C; Logie, Colin; Oliferenko, Snezhana; Blake, Judith; Christie, Karen; Corbani, Lori; Dolan, Mary E; Drabkin, Harold J; Hill, David P; Ni, Li; Sitnikov, Dmitry; Smith, Cynthia; Cuzick, Alayne; Seager, James; Cooper, Laurel; Elser, Justin; Jaiswal, Pankaj; Gupta, Parul; Jaiswal, Pankaj; Naithani, Sushma; Lera-Ramirez, Manuel; Rutherford, Kim; Wood, Valerie; De Pons, Jeffrey L; Dwinell, Melinda R; Hayman, G Thomas; Kaldunski, Mary L; Kwitek, Anne E; Laulederkind, Stanley J F; Tutaj, Marek A; Vedi, Mahima; Wang, Shur-Jen; D’Eustachio, Peter; Aimo, Lucila; Axelsen, Kristian; Bridge, Alan; Hyka-Nouspikel, Nevila; Morgat, Anne; Aleksander, Suzi A; Cherry, J Michael; Engel, Stacia R; Karra, Kalpana; Miyasato, Stuart R; Nash, Robert S; Skrzypek, Marek S; Weng, Shuai; Wong, Edith D; Bakker, Erika; Berardini, Tanya Z; Reiser, Leonore; Auchincloss, Andrea; Axelsen, Kristian; Argoud-Puy, Ghislaine; Blatter, Marie-Claude; Boutet, Emmanuel; Breuza, Lionel; Bridge, Alan; Casals-Casas, Cristina; Coudert, Elisabeth; Estreicher, Anne; Famiglietti, Maria Livia; Feuermann, Marc; Gos, Arnaud; Gruaz-Gumowski, Nadine; Hulo, Chantal; Hyka-Nouspikel, Nevila; Jungo, Florence; Le Mercier, Philippe; Lieberherr, Damien; Masson, Patrick; Morgat, Anne; Pedruzzi, Ivo; Pourcel, Lucille; Poux, Sylvain; Rivoire, Catherine; Sundaram, Shyamala; Bateman, Alex; Bowler-Barnett, Emily; Bye-A-Jee, Hema; Denny, Paul; Ignatchenko, Alexandr; Ishtiaq, Rizwan; Lock, Antonia; Lussi, Yvonne; Magrane, Michele; Martin, Maria J; Orchard, Sandra; Raposo, Pedro; Speretta, Elena; Tyagi, Nidhi; Warner, Kate; Zaru, Rossana; Diehl, Alexander D; Lee, Raymond; Chan, Juancarlos; Diamantakis, Stavros; Raciti, Daniela; Zarowiecki, Magdalena; Fisher, Malcolm; James-Zorn, Christina; Ponferrada, Virgilio; Zorn, Aaron; Ramachandran, Sridhar; Ruzicka, Leyla; Westerfield, Monte
TRIO variants in individuals with variable intellectual deficits
2017 Aspromonte, MARIA CRISTINA; Gasparini, Alessandra; Polli, Roberta; Bettella, Elisa; Cesca, Federica; Sartori, Stefano; Bigoni, Stefania; Mammi, Isabella; Carraro, Marco; Tosatto, Silvio C. E.; Murgia, Alessandra; Leonardi, Emanuela