ASPROMONTE, MARIA CRISTINA
ASPROMONTE, MARIA CRISTINA
Dipartimento di Scienze Biomediche - DSB
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)
2025 Aspromonte, Maria Cristina; Del Conte, Alessio; 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
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
2025 Aspromonte, Maria Cristina; Del Conte, Alessio; Polli, Roberta; Baldo, Demetrio; Benedicenti, Francesco; Bettella, Elisa; Bigoni, Stefania; Boni, Stefania; Ciaccio, Claudia; D'Arrigo, Stefano; Donati, Ilaria; Granocchio, Elisa; Mammi, Isabella; Milani, Donatella; Negrin, Susanna; Nosadini, Margherita; Soli, Fiorenza; Stanzial, Franco; Turolla, Licia; Piovesan, Damiano; Tosatto, Silvio C E; Murgia, Alessandra; Leonardi, Emanuela
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
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
2024 Jain, Shantanu; Bakolitsa, Constantina; E Brenner, Steven; Radivojac, Predrag; Moult, John; Repo, Susanna; A Hoskins, Roger; Andreoletti, Gaia; Barsky, Daniel; Chellapan, Ajithavalli; Chu, Hoyin; Dabbiru, Navya; K Kollipara, Naveen; Ly, Melissa; J Neumann, Andrew; R Pal, Lipika; Odell, Eric; Pandey, Gaurav; C Peters-Petrulewicz, Robin; Srinivasan, Rajgopal; F Yee, Stephen; Jyothsna Yeleswarapu, Sri; Zuhl, Maya; Adebali, Ogun; Patra, Ayoti; A Beer, Michael; Hosur, Raghavendra; Peng, Jian; M Bernard, Brady; Berry, Michael; Dong, Shengcheng; P Boyle, Alan; Adhikari, Aashish; Chen, Jingqi; Hu, Zhiqiang; Wang, Robert; Wang, Yaqiong; Miller, Maximilian; Wang, Yanran; Bromberg, Yana; Turina, Paola; Capriotti, Emidio; J Han, James; Ozturk, Kivilcim; Carter, Hannah; Babbi, Giulia; Bovo, Samuele; Di Lena, Pietro; Luigi Martelli, Pier; Savojardo, Castrense; Casadio, Rita; S Cline, Melissa; De Baets, Greet; Bonache, Sandra; Díez, Orland; Gutiérrez-Enríquez, Sara; Fernández, Alejandro; Montalban, Gemma; Ootes, Lars; Özkan, Selen; Padilla, Natàlia; Riera, Casandra; De la Cruz, Xavier; Diekhans, Mark; J Huwe, Peter; Wei, Qiong; Xu, Qifang; L Dunbrack, Roland; Gotea, Valer; Elnitski, Laura; Margolin, Gennady; Fariselli, Piero; V Kulakovskiy, Ivan; J Makeev, Vsevolod; D Penzar, Dmitry; E Vorontsov, Ilya; V Favorov, Alexander; R Forman, Julia; Hasenahuer, Marcia; S Fornasari, Maria; Parisi, Gustavo; Avsec, Ziga; H Çelik, Muhammed; Yen Duong Nguyen, Thi; Gagneur, Julien; Shi, Fang-Yuan; D Edwards, Matthew; Guo, Yuchun; Tian, Kevin; Zeng, Haoyang; K Gifford, David; Göke, Jonathan; Zaucha, Jan; Gough, Julian; S Ritchie, Graham R; Frankish, Adam; M Mudge, Jonathan; Harrow, Jennifer; L Young, Erin; Yu, Yao; D Huff, Chad; Murakami, Katsuhiko; Nagai, Yoko; Imanishi, Tadashi; J Mungall, Christopher; B Jacobsen, Julius O; Kim, Dongsup; Jeong, Chan-Seok; T Jones, David; Jun Li, Mulin; Beleva Guthrie, Violeta; Bhattacharya, Rohit; Chen, Yun-Ching; Douville, Christopher; Fan, Jean; Kim, Dewey; Masica, David; Niknafs, Noushin; Sengupta, Sohini; Tokheim, Collin; N Turner, Tychele; Ting Grace Yeo, Hui; Karchin, Rachel; Shin, Sunyoung; Welch, Rene; Keles, Sunduz; Li, Yue; Kellis, Manolis; Corbi-Verge, Carles; V Strokach, Alexey; M Kim, Philip; E Klein, Teri; Mohan, Rahul; A Sinnott-Armstrong, Nicholas; Wainberg, Michael; Kundaje, Anshul; Gonzaludo, Nina; Y Mak, Angel C; Chhibber, Aparna; K Lam, Hugo Y; Dahary, Dvir; Fishilevich, Simon; Lancet, Doron; Lee, Insuk; Bachman, Benjamin; Katsonis, Panagiotis; C Lua, Rhonald; J Wilson, Stephen; Lichtarge, Olivier; R Bhat, Rajendra; Sundaram, Laksshman; Viswanath, Vivek; Bellazzi, Riccardo; Nicora, Giovanna; Rizzo, Ettore; Limongelli, Ivan; M Mezlini, Aziz; Chang, Ray; Kim, Serra; Lai, Carmen; O'Connor, Robert; Topper, Scott; van den Akker, Jeroen; Y Zhou, Alicia; D Zimmer, Anjali; Mishne, Gilad; R Bergquist, Timothy; R Breese, Marcus; F Guerrero, Rafael; Jiang, Yuxiang; Kiga, Nikki; Li, Biao; Mort, Matthew; A Pagel, Kymberleigh; Pejaver, Vikas; H Stamboulian, Moses; Thusberg, Janita; D Mooney, Sean; Teerakulkittipong, Nuttinee; Cao, Chen; Kundu, Kunal; Yin, Yizhou; Yu, Chen-Hsin; Kleyman, Michael; Lin, Chiao-Feng; Stackpole, Mary; M Mount, Stephen; Eraslan, Gökcen; S Mueller, Nikola; Naito, Tatsuhiko; R Rao, Aliz; R Azaria, Johnathan; Brodie, Aharon; Ofran, Yanay; Garg, Aditi; Pal, Debnath; Hawkins-Hooker, Alex; Kenlay, Henry; Reid, John; J Mucaki, Eliseos; K Rogan, Peter; M Schwarz, Jana; B Searls, David; Rie Lee, Gyu; Seok, Chaok; Krämer, Andreas; Shah, Sohela; V Huang, Chenglai; F Kirsch, Jack; Shatsky, Maxim; Cao, Yue; Chen, Haoran; Karimi, Mostafa; Moronfoye, Oluwaseyi; Sun, Yuanfei; Shen, Yang; Shigeta, Ron; T Ford, Colby; Nodzak, Conor; Uppal, Aneeta; Shi, Xinghua; Joseph, Thomas; Kotte, Sujatha; Rana, Sadhna; Rao, Aditya; G Saipradeep, V; Sivadasan, Naveen; Sunderam, Uma; Stanke, Mario; Su, Andrew; Adzhubey, Ivan; M Jordan, Daniel; Sunyaev, Shamil; Rousseau, Frederic; Schymkowitz, Joost; Van Durme, Joost; V Tavtigian, Sean; Carraro, Marco; Giollo, Manuel; Tosatto, Silvio; Adato, Orit; Carmel, Liran; E Cohen, Noa; Fenesh, Tzila; Holtzer, Tamar; Juven-Gershon, Tamar; Unger, Ron; Niroula, Abhishek; Olatubosun, Ayodeji; Väliaho, Jouni; Yang, Yang; Vihinen, Mauno; E Wahl, Mary; Chang, Billy; Chun Chong, Ka; Hu, Inchi; Sun, Rui; Ka Kei Wu, William; Xia, Xiaoxuan; C Zee, Benny; H Wang, Maggie; Wang, Meng; Wu, Chunlei; Lu, Yutong; Chen, Ken; Yang, Yuedong; M Yates, Christopher; Kreimer, Anat; Yan, Zhongxia; Yosef, Nir; Zhao, Huying; Wei, Zhipeng; Yao, Zhaomin; Zhou, Fengfeng; Folkman, Lukas; Zhou, Yaoqi; Daneshjou, Roxana; B Altman, Russ; Inoue, Fumitaka; Ahituv, Nadav; P Arkin, Adam; Lovisa, Federica; Bonvini, Paolo; Bowdin, Sarah; Gianni, Stefano; Mantuano, Elide; Minicozzi, Velia; Novak, Leonore; Pasquo, Alessandra; Pastore, Annalisa; Petrosino, Maria; Puglisi, Rita; Toto, Angelo; Veneziano, Liana; Chiaraluce, Roberta; P Ball, Mad; R Bobe, Jason; M Church, George; Consalvi, Valerio; N Cooper, David; A Buckley, Bethany; B Sheridan, Molly; R Cutting, Garry; Chiara Scaini, Maria; J Cygan, Kamil; M Fredericks, Alger; T Glidden, David; Neil, Christopher; L Rhine, Christy; G Fairbrother, William; Y Alontaga, Aileen; W Fenton, Aron; A Matreyek, Kenneth; M Starita, Lea; M Fowler, Douglas; Löscher, Britt-Sabina; Franke, Andre; I Adamson, Scott; R Graveley, Brenton; W Gray, Joe; J Malloy, Mary; P Kane, John; Kousi, Maria; Katsanis, Nicholas; Schubach, Max; Kircher, Martin; Y Mak, Angel C; F Tang, Paul L; Kwok, Pui-Yan; H Lathrop, Richard; T Clark, Wyatt; K Yu, Guoying; H LeBowitz, Jonathan; Benedicenti, Francesco; Bettella, Elisa; Bigoni, Stefania; Cesca, Federica; Mammi, Isabella; Marino-Buslje, Cristina; Milani, Donatella; Peron, Angela; Polli, Roberta; Sartori, Stefano; Stanzial, Franco; Toldo, Irene; Turolla, Licia; C Aspromonte, Maria; Bellini, Mariagrazia; Leonardi, Emanuela; Liu, Xiaoming; Marshall, Christian; Richard McCombie, W; Elefanti, Lisa; Menin, Chiara; Stephen Meyn, M; Murgia, Alessandra; Y Nadeau, Kari C; L Neuhausen, Susan; L Nussbaum, Robert; Pirooznia, Mehdi; B Potash, James; F Dimster-Denk, Dago; D Rine, Jasper; R Sanford, Jeremy; Snyder, Michael; G Cote, Atina; Sun, Song; W Verby, Marta; Weile, Jochen; P Roth, Frederick; Tewhey, Ryan; C Sabeti, Pardis; Campagna, Joan; M Refaat, Marwan; Wojciak, Julianne; Grubb, Soren; Schmitt, Nicole; Shendure, Jay; B Spurdle, Amanda; J Stavropoulos, Dimitri; A Walton, Nephi; P Zandi, Peter; Ziv, Elad; Burke, Wylie; Chen, Flavia; R Carr, Lawrence; Martinez, Selena; Paik, Jodi; Harris-Wai, Julie; Yarborough, Mark; M Fullerton, Stephanie; A Koenig, Barbara; Mcinnes, Gregory; Shigaki, Dustin; Chandonia, John-Marc; Furutsuki, Mabel; Kasak, Laura; Yu, Changhua; Chen, Rui; Friedberg, Iddo; A Getz, Gad; Cong, Qian; N Kinch, Lisa; Zhang, Jing; V Grishin, Nick; Voskanian, Alin; G Kann, Maricel; Tran, Elizabeth; M Ioannidis, Nilah; M Hunter, Jesse; Udani, Rupa; Cai, Binghuang; A Morgan, Alexander; Sokolov, Artem; M Stuart, Joshua; Minervini, Giovanni; Monzon, Alexander Miguel; Batzoglou, Serafim; J Butte, Atul; S Greenblatt, Marc; K Hart, Reece; Hernandez, Ryan; P Hubbard, Tim J; Kahn, Scott; O'Donnell-Luria, Anne; C Ng, Pauline; Shon, John; Veltman, Joris; M Zook, Justin
MOBIDB in 2025: integrating ensemble properties and function annotations for intrinsically disordered proteins
2024 Piovesan, D.; Conte, A. D.; Mehdiabadi, M.; Aspromonte, M. C.; Blum, M.; Tesei, G.; von Bulow, S.; Lindorff-Larsen, K.; Tosatto, S. C. E.
Searching and Using MobiDB Resource 6 to Explore Predictions and Annotations for Intrinsically Disordered Proteins
2024 Aspromonte, M. C.; Quaglia, F.; Monzon, A. M.; Clementel, D.; Del Conte, A.; Piovesan, D.; Tosatto, S. C. E.
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs)
2023 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; Sriniva, Rajgopal; Murgia, Alessandra; Piovesan, Damiano; Tosatto, Silvio C. E.; Leonardi, Emanuela
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
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
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
PED in 2024: improving the community deposition of structural ensembles for intrinsically disordered proteins
2023 Ghafouri, Hamidreza; Lazar, Tamas; Del Conte, Alessio; Tenorio Ku, Luiggi G; Aspromonte, Maria Cristina; Leonardi, Emanuela; Tompa, Peter; Tosatto, Silvio C E; Monzon, Alexander Miguel
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
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
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.
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.
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.
PPP2R5D variants in patients with variable neurodevelopmental phenotype
2020 Aspromonte, MARIA CRISTINA; Leonardi, Emanuela; Polli, Roberta; Bettella, Elisa; Cameran, Marilena; Guerrini, Renzo; Murgia, Alessandra
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.
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