Sfoglia per Autore
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; M Monzon, Alexander; 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
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.
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.
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
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.
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members
2018 Cesca, Federica; Bettella, Elisa; Polli, Roberta; Cama, Elona; Scimemi, Pietro; Santarelli, Rosamaria; Murgia, Alessandra
Hereditary Hearing Loss: From Molecular Bases To Phenotypic Caractherization
2017 Cesca, Federica
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
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
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