학술논문
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'학술논문'
에서 검색결과 247건 | 목록
1~20
Academic Journal
Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Català-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jägle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, André; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Günther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias I.; Tsang, Stephen H.; Varsanyi, Balázs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd; Kohl, Susanne
Human Mutation. 43(7):832-858
Academic Journal
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
Hum Genet
Academic Journal
Chiara Rigamonti; Dimitri Bulté; Federica Barzaghi; Cristina Mesa-Nuñez; Luca Basso-Ricci; Emanuela Pettinato; Camilla Visconti; Sara Degl’Innocenti; Francesco Gazzo; Fabrizio Benedicenti; Sergio Arévalo; Pamela Quaranta; Francesca Sanvito; Roberta Caorsi; Francesca Schena; Michela Lupia; Silvia Federici; Antonella Insalaco; Fabrizio De Benedetti; Serena Scala; Maurizio Miano; Francesca Conti; Maria Pia Cicalese; Eugenio Montini; Marco Gattorno; Carlo Dufour; Alessandro Aiuti; Alessandra Mortellaro
Molecular Therapy: Methods & Clinical Development, Vol 33, Iss 4, Pp 101624- (2025)
Academic Journal
Wood, Katherine A; Tong, R Spencer; Motta, Marialetizia; Cordeddu, Viviana; Scimone, Eleanor R; Bush, Stephen J; Maxwell, Dale W; Giannoulatou, Eleni; Caputo, Viviana; Traversa, Alice; Mancini, Cecilia; Ferrero, Giovanni Battista; Benedicenti, Francesco; Grammatico, Paola; Melis, Daniela; Steindl, Katharina; Brunetti-Pierri, Nicola; Trevisson, Eva; Wilkie, Andrew OM; Lin, Angela E; Cormier-Daire, Valérie; Twigg, Stephen RF; Tartaglia, Marco; Goriely, Anne
Am J Hum Genet
Academic Journal
Mastromoro, Gioia ; Santoro, Claudia ; Motta, Marialetizia ; Sorrentino, Ugo ; Daniele, Paola ; Peduto, Cristina ; Petrizzelli, Francesco ; Tripodi, Martina ; Pinna, Valentina ; Zanobio, Mariateresa ; Rotundo, Giovannina ; Bellacchio, Emanuele ; Lepri, Francesca ; Farina, Antonella ; D’Asdia, Maria Cecilia ; Piceci-Sparascio, Francesca ; Biagini, Tommaso ; Petracca, Antonio ; Castori, Marco ; Melis, Daniela ; Accadia, Maria ; Traficante, Giovanna ; Tarani, Luigi ; Fontana, Paolo ; Sirchia, Fabio ; Paparella, Roberto ; Currò, Aurora ; Benedicenti, Francesco ; Scala, Iris ; Dentici, Maria Lisa ; Leoni, Chiara ; Trevisan, Valentina ; Cecconi, Antonella ; Giustini, Sandra ; Pizzuti, Antonio ; Salviati, Leonardo ; Novelli, Antonio ; Zampino, Giuseppe ; Zenker, Martin ; Genuardi, Maurizio ; Digilio, Maria Cristina ; Papi, Laura ; Perrotta, Silverio ; Nigro, Vincenzo ; Castellanos, Elisabeth ; Mazza, Tommaso ; Trevisson, Eva ; Tartaglia, Marco ; Piluso, Giulio ; De Luca, Alessandro
In Genetics in Medicine November 2024 26(11)
Academic Journal
Cleene, Nicolas De ; Carbone, Federico ; Cerejo, Clancy ; Peball, Marina ; Stanzial, Franco ; Benedicenti, Francesco ; Lunzer, Renate ; Seppi, Klaus ; Heim, Beatrice
In Clinical Parkinsonism & Related Disorders 2025 12
Academic Journal
Goodkey, Kara; Wischmeijer, Anita; Perrin, Laurence; Watson, Adrianne E. S.; Qureshi, Leenah; Cordelli, Duccio Maria; Toni, Francesco; Gnazzo, Maria; Benedicenti, Francesco; Elmaleh-Bergès, Monique; Low, Karen J.; Voronova, Anastassia
BMC Medicine. 22(1)
Academic Journal
Goodkey, Kara; Wischmeijer, Anita; Perrin, Laurence; Watson, Adrianne E. S.; Qureshi, Leenah; Cordelli, Duccio Maria; Toni, Francesco; Gnazzo, Maria; Benedicenti, Francesco; Elmaleh‑Berges, Monique; Low, Karen J.; Voronova, Anastassia
BMC Medicine. 22(1)
Academic Journal
Zobor, Ditta; Werner, Annette; Stanzial, Franco; Benedicenti, Francesco; Rudolph, Günther; Kellner, Ulrich; Hamel, Christian P; Andréasson, Sten; Zobor, Gergely; Strasser, Torsten; Wissinger, Bernd; Kohl, Susanne; Zrenner, Eberhart
Investigative Ophthalmology and Visual Science. 58(2):821-832
Academic Journal
Bayat, Allan ; Grimes, Hannah ; de Boer, Elke ; Herlin, Morten Krogh ; Dahl, Rebekka Staal ; Lund, Ida Charlotte Bay ; Bayat, Michael ; Bolund, Anneli Clea Skjelmose ; Gjerulfsen, Cathrine Elisabeth ; Gregersen, Pernille Axél ; Zilmer, Monica ; Juhl, Stefan ; Cebula, Katarzyna ; Rahikkala, Elisa ; Maystadt, Isabelle ; Peron, Angela ; Vignoli, Aglaia ; Alfano, Rosa Maria ; Stanzial, Franco ; Benedicenti, Francesco ; Currò, Aurora ; Luk, Ho-Ming ; Jouret, Guillaume ; Zurita, Ella ; Heuft, Lara ; Schnabel, Franziska ; Busche, Andreas ; Veenstra-Knol, Hermine Elisabeth ; Tkemaladze, Tinatin ; Vrielynck, Pascal ; Lederer, Damien ; Platzer, Konrad ; Ockeloen, Charlotte Wilhelmina ; Goel, Himanshu ; Low, Karen Jaqueline
In Genetics in Medicine August 2024 26(8)
Academic Journal
Daniela Cesana; Maria Pia Cicalese; Andrea Calabria; Pietro Merli; Roberta Caruso; Monica Volpin; Laura Rudilosso; Maddalena Migliavacca; Federica Barzaghi; Claudia Fossati; Francesco Gazzo; Simone Pizzi; Andrea Ciolfi; Alessandro Bruselles; Francesca Tucci; Giulio Spinozzi; Giulia Pais; Fabrizio Benedicenti; Matteo Barcella; Ivan Merelli; Pierangela Gallina; Stefania Giannelli; Francesca Dionisio; Serena Scala; Miriam Casiraghi; Luisa Strocchio; Luciana Vinti; Lucia Pacillo; Eleonora Draghi; Marcella Cesana; Sara Riccardo; Chiara Colantuono; Emmanuelle Six; Marina Cavazzana; Filippo Carlucci; Manfred Schmidt; Caterina Cancrini; Fabio Ciceri; Luca Vago; Davide Cacchiarelli; Bernhard Gentner; Luigi Naldini; Marco Tartaglia; Eugenio Montini; Franco Locatelli; Alessandro Aiuti
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Academic Journal
Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukáš; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-González, Anna Maria; Trujillano, Laura; Valenzuela, Irene; Tizzano, Eduardo F; Spinelli, Alessandro Mauro; Bruno, Irene; Currò, Aurora; Stanzial, Franco; Benedicenti, Francesco; Lopergolo, Diego; Santorelli, Filippo Maria; Aristidou, Constantia; Tanteles, George A; Maystadt, Isabelle; Tkemaladze, Tinatin; Reimand, Tiia; Lokke, Helen; Õunap, Katrin; Haanpää, Maria K; Holubová, Andrea; Zoubková, Veronika; Schwarz, Martin; Žordania, Riina; Muru, Kai; Roht, Laura; Tihveräinen, Annika; Teek, Rita; Thomson, Ulvi; Isis, Atallah; Superti-Furga, Andrea; Buoni, Sabrina; Canitano, Roberto; Scandurra, Valeria; Rossetti, Annalisa; Grosso, Salvatore; Battini, Roberta; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Rizzo, Caterina Lo; Bruttini, Mirella; Mari, Francesca; Ariani, Francesca; Renieri, Alessandra; Pinto, Anna Maria
Hum Mol Genet
Loberti, L, Bruno, L P, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L A, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A M, Trujillano, L, Valenzuela, I, Tizzano, E F, Spinelli, A M, Bruno, I, Currò, A, Stanzial, F,Benedicenti , F, Lopergolo, D, Santorelli, F M, Aristidou, C, Tanteles, G A, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M K, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Atallah, I, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M A, Rizzo, C L, Bruttini, M, Mari, F, Ariani, F, Renieri, A & Pinto, A M 2022, 'Natural history of KBG syndrome in a large European cohort', Human Molecular Genetics, vol. 31, no. 24, pp. 4131-4142. https://doi.org/10.1093/hmg/ddac167
Human molecular genetics, Vol. 31, no.24, p. 4131-4142 (2022)
Human molecular genetics, vol. 31, no. 24, pp. 4131-4142
Loberti, L, Bruno, L P, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L A, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A M, Trujillano, L, Valenzuela, I, Tizzano, E F, Spinelli, A M, Bruno, I, Currò, A, Stanzial, F,
Human molecular genetics, Vol. 31, no.24, p. 4131-4142 (2022)
Human molecular genetics, vol. 31, no. 24, pp. 4131-4142
Academic Journal
Jain, Shantanu; Bakolitsa, Constantina; Brenner, Steven E; Radivojac, Predrag; Moult, John; Repo, Susanna; Hoskins, Roger A; Andreoletti, Gaia; Barsky, Daniel; Chellapan, Ajithavalli; Chu, Hoyin; Dabbiru, Navya; Kollipara, Naveen K; Ly, Melissa; Neumann, Andrew J; Pal, Lipika R; Odell, Eric; Pandey, Gaurav; Peters-Petrulewicz, Robin C; Srinivasan, Rajgopal; Yee, Stephen F; Yeleswarapu, Sri Jyothsna; Zuhl, Maya; Adebali, Ogun; Patra, Ayoti; Beer, Michael A; Hosur, Raghavendra; Peng, Jian; Bernard, Brady M; Berry, Michael; Dong, Shengcheng; Boyle, Alan P; Adhikari, Aashish; Chen, Jingqi; Hu, Zhiqiang; Wang, Robert; Wang, Yaqiong; Miller, Maximilian; Wang, Yanran; Bromberg, Yana; Turina, Paola; Capriotti, Emidio; Han, James J; Ozturk, Kivilcim; Carter, Hannah; Babbi, Giulia; Bovo, Samuele; Di Lena, Pietro; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Cline, Melissa S; De Baets, Greet; Bonache, Sandra; Diez, Orland; Gutierrez-Enriquez, Sara; Fernandez, Alejandro; Montalban, Gemma; Ootes, Lars; Ozkan, Selen; Padilla, Natalia; Riera, Casandra; De la Cruz, Xavier; Diekhans, Mark; Huwe, Peter J; Wei, Qiong; Xu, Qifang; Dunbrack, Roland L; Gotea, Valer; Elnitski, Laura; Margolin, Gennady; Fariselli, Piero; Kulakovskiy, Ivan V; Makeev, Vsevolod J; Penzar, Dmitry D; Vorontsov, Ilya E; Favorov, Alexander V; Forman, Julia R; Hasenahuer, Marcia; Fornasari, Maria S; Parisi, Gustavo; Avsec, Ziga; Celik, Muhammed H; Thi, Yen Duong Nguyen; Gagneur, Julien; Shi, Fang-Yuan; Edwards, Matthew D; Guo, Yuchun; Tian, Kevin; Zeng, Haoyang; Gifford, David K; Goke, Jonathan; Zaucha, Jan; Gough, Julian; Ritchie, Graham RS; Frankish, Adam; Mudge, Jonathan M; Harrow, Jennifer; Young, Erin L; Yu, Yao; Huff, Chad D; Murakami, Katsuhiko; Nagai, Yoko; Imanishi, Tadashi; Mungall, Christopher J; Jacobsen, Julius OB; Kim, Dongsup; Jeong, Chan-Seok; Jones, David T; Li, Mulin Jun; Guthrie, Violeta Beleva; Bhattacharya, Rohit; Chen, Yun-Ching; Douville, Christopher; Fan, Jean; Kim, Dewey; Masica, David; Niknafs, Noushin; Sengupta, Sohini; Tokheim, Collin; Turner, Tychele N; Yeo, Hui Ting Grace; Karchin, Rachel; Shin, Sunyoung; Welch, Rene; Keles, Sunduz; Li, Yue; Kellis, Manolis; Corbi-Verge, Carles; Strokach, Alexey V; Kim, Philip M; Klein, Teri E; Mohan, Rahul; Sinnott-Armstrong, Nicholas A; Wainberg, Michael; Kundaje, Anshul; Gonzaludo, Nina; Mak, Angel CY; Chhibber, Aparna; Lam, Hugo YK; Dahary, Dvir; Fishilevich, Simon; Lancet, Doron; Lee, Insuk; Bachman, Benjamin; Katsonis, Panagiotis; Lua, Rhonald C; Wilson, Stephen J; Lichtarge, Olivier; Bhat, Rajendra R; Sundaram, Laksshman; Viswanath, Vivek; Bellazzi, Riccardo; Nicora, Giovanna; Rizzo, Ettore; Limongelli, Ivan; Mezlini, Aziz M; Chang, Ray; Kim, Serra; Lai, Carmen; O'Connor, Robert; Topper, Scott; van den Akker, Jeroen; Zhou, Alicia Y; Zimmer, Anjali D; Mishne, Gilad; Bergquist, Timothy R; Breese, Marcus R; Guerrero, Rafael F; Jiang, Yuxiang; Kiga, Nikki; Li, Biao; Mort, Matthew; Pagel, Kymberleigh A; Pejaver, Vikas; Stamboulian, Moses H; Thusberg, Janita; Mooney, Sean D; Teerakulkittipong, Nuttinee; Cao, Chen; Kundu, Kunal; Yin, Yizhou; Yu, Chen-Hsin; Kleyman, Michael; Lin, Chiao-Feng; Stackpole, Mary; Mount, Stephen M; Eraslan, Gokcen; Mueller, Nikola S; Naito, Tatsuhiko; Rao, Aliz R; Azaria, Johnathan R; Brodie, Aharon; Ofran, Yanay; Garg, Aditi; Pal, Debnath; Hawkins-Hooker, Alex; Kenlay, Henry; Reid, John; Mucaki, Eliseos J; Rogan, Peter K; Schwarz, Jana M; Searls, David B; Lee, Gyu Rie; Seok, Chaok; Kramer, Andreas; Shah, Sohela; Huang, ChengLai V; Kirsch, Jack F; Shatsky, Maxim; Cao, Yue; Chen, Haoran; Karimi, Mostafa; Moronfoye, Oluwaseyi; Sun, Yuanfei; Shen, Yang; Shigeta, Ron; Ford, Colby T; Nodzak, Conor; Uppal, Aneeta; Shi, Xinghua; Joseph, Thomas; Kotte, Sujatha; Rana, Sadhna; Rao, Aditya; Saipradeep, VG; Sivadasan, Naveen; Sunderam, Uma; Stanke, Mario; Su, Andrew; Adzhubey, Ivan; Jordan, Daniel M; Sunyaev, Shamil; Rousseau, Frederic; Schymkowitz, Joost; Van Durme, Joost; Tavtigian, Sean V; Carraro, Marco; Giollo, Manuel; Tosatto, Silvio CE; Adato, Orit; Carmel, Liran; Cohen, Noa E; Fenesh, Izila; Holtzer, Iamar; Juven-Gershon, Tamar; Unger, Ron; Niroula, Abhishek; Olatubosun, Ayodeji; Valiaho, Jouni; Yang, Yang; Vihinen, Mauno; Wahl, Mary E; Chang, Billy; Chong, Ka Chun; Hu, Inchi; Sun, Rui; Wu, William Ka Kei; Xia, Xiaoxuan; Zee, Benny C; Wang, Maggie H; Wang, Meng; Wu, Chunlei; Lu, Yutong; Chen, Ken; Yang, Yuedong; Yates, Christopher M; Kreimer, Anat; Yan, Zhongxia; Yosef, Nir; Zhao, Huying; Wei, Zhipeng; Yao, Zhaomin; Zhou, Fengfeng; Folkman, Lukas; Zhou, Yaoqi; Daneshjou, Roxana; Altman, Russ B; Inoue, Fumitaka; Ahituv, Nadav; Arkin, Adam P; 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; Ball, Mad P; Bobe, Jason R; Church, George M; Consalvi, Valerio; Cooper, David N; Buckley, Bethany A; Sheridan, Molly B; Cutting, Garry R; Scaini, Maria Chiara; Cygan, Kamil J; Fredericks, Alger M; Glidden, David T; Neil, Christopher; Rhine, Christy L; Fairbrother, William G; Alontaga, Aileen Y; Fenton, Aron W; Matreyek, Kenneth A; Starita, Lea M; Fowler, Douglas M; Loescher, Britt-Sabina; Franke, Andre; Adamson, Scott I; Graveley, Brenton R; Gray, Joe W; Malloy, Mary J; Kane, John P; Kousi, Maria; Katsanis, Nicholas; Schubach, Max; Kircher, Martin; Tang, Paul LF; Kwok, Pui-Yan; Lathrop, Richard H; Clark, Wyatt T; Yu, Guoying K; LeBowitz, Jonathan H; Benedicenti, Francesco; Bettella, Elisa; Bigoni, Stefania; Cesca, Federica; Mammi, Isabella; Marino-Bus-Ije, Cristina; Milani, Donatella; Peron, Angela; Polli, Roberta; Sartori, Stefano; Stanzial, Franco; Ioldo, Irene; Turolla, Licia; Aspromonte, Maria C; Bellini, Mariagrazia; Leonardi, Emanuela; Liu, Xiaoming; Marshall, Christian; McCombie, W Richard; Elefanti, Lisa; Menin, Chiara; Meyn, M Stephen; Murgia, Alessandra; Nadeau, Kari CY; Neuhausen, Susan L; Nussbaum, Robert L; Pirooznia, Mehdi; Potash, James B; Dimster-Denk, Dago F; Rine, Jasper D; Sanford, Jeremy R; Snyder, Michael; Cole, Alina G; Sun, Song; Verby, Marta W; Weile, Jochen; Roth, Frederick P; Tewhey, Ryan; Sabeti, Pardis C; Campagna, Joan; Refaat, Marwan M; Wojciak, Julianne; Grubb, Soren; Schmitt, Nicole; Shendure, Jay; Spurdle, Amanda B; Stavropoulos, Dimitri J; Walton, Nephi A; Zandi, Peter P; Ziv, Elad; Burke, Wylie; Chen, Flavia; Carr, Lawrence R; Martinez, Selena; Paik, Jodi; Harris-Wai, Julie; Yarborough, Mark; Fullerton, Stephanie M; Koenig, Barbara A; McInnes, Gregory; Shigaki, Dustin; Chandonia, John-Marc; Furutsuki, Mabel; Kasak, Laura; Yu, Changhua; Chen, Rui; Friedberg, Iddo; Getz, Gad A; Cong, Qian; Kinch, Lisa N; Zhang, Jing; Grishin, Nick V; Voskanian, Alin; Kann, Maricel G; Tran, Elizabeth; Ioannidis, Nilah M; Hunter, Jesse M; Udani, Rupa; Cai, Binghuang; Morgan, Alexander A; Sokolov, Artem; Stuart, Joshua M; Minervini, Giovanni; Monzon, Alexander M; Batzoglou, Serafim; Butte, Atul J; Greenblatt, Marc S; Hart, Reece K; Hernandez, Ryan; Hubbard, Tim JP; Kahn, Scott; O'Donnell-Luria, Anne; Ng, Pauline C; Shon, John; Veltman, Joris; Zook, Justin M; The Critical Assessment of Genome Interpretation Consortium
Genome Biol
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
GENOME BIOLOGY
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Genome Biology, Vol 25, Iss 1, Pp 1-46 (2024)
Jain, S, Bakolitsa, C, Brenner, S E, Radivojac, P, Moult, J, Repo, S, Hoskins, R A, Andreoletti, G, Barsky, D, Chellapan, A, Chu, H, Dabbiru, N, Kollipara, N K, Ly, M, Neumann, A J, Pal, L R, Odell, E, Pandey, G, Peters-Petrulewicz, R C, Srinivasan, R, Yee, S F, Yeleswarapu, S J, Zuhl, M, Adebali, O, Patra, A, Beer, M A, Hosur, R, Peng, J, Bernard, B M, Berry, M, Dong, S, Boyle, A P, Adhikari, A, Chen, J, Hu, Z, Wang, R, Wang, Y, Miller, M, Wang, Y, Bromberg, Y, Turina, P, Capriotti, E, Han, J J, Ozturk, K, Carter, H, Babbi, G, Bovo, S, di Lena, P, Martelli, P L, Savojardo, C, Casadio, R, Cline, M S, de Baets, G, Bonache, S, Díez, O, Gutiérrez-Enríquez, S, Fernández, A, Montalban, G, Ootes, L, Özkan, S, Padilla, N, Riera, C, de la Cruz, X, Diekhans, M, Huwe, P J, Wei, Q, Xu, Q, Dunbrack, R L, Gotea, V, Elnitski, L, Margolin, G, Fariselli, P, Kulakovskiy, I V, Makeev, V J, Penzar, D D, Vorontsov, I E, Favorov, A V, Forman, J R, Hasenahuer, M, Fornasari, M S, Parisi, G, Avsec, Z, Çelik, M H, Nguyen, T Y D, Gagneur, J, Shi, F-Y, Edwards, M D, Guo, Y, Tian, K, Zeng, H, Gifford, D K, Göke, J, Zaucha, J, Gough, J, Ritchie, G R S, Frankish, A, Mudge, J M, Harrow, J, Young, E L, Yu, Y, Huff, C D, Murakami, K, Nagai, Y, Imanishi, T, Mungall, C J, Jacobsen, J O B, Kim, D, Jeong, C-S, Jones, D T, Li, M J, Guthrie, V B, Bhattacharya, R, Chen, Y-C, Douville, C, Fan, J, Kim, D, Masica, D, Niknafs, N, Sengupta, S, Tokheim, C, Turner, T N, Yeo, H T G, Karchin, R, Shin, S, Welch, R, Keles, S, Li, Y, Kellis, M, Corbi-Verge, C, Strokach, A V, Kim, P M, Klein, T E, Mohan, R, Sinnott-Armstrong, N A, Wainberg, M, Kundaje, A, Gonzaludo, N, Mak, A C Y, Chhibber, A, Lam, H Y K, Dahary, D, Fishilevich, S, Lancet, D, Lee, I, Bachman, B, Katsonis, P, Lua, R C, Wilson, S J, Lichtarge, O, Bhat, R R, Sundaram, L, Viswanath, V, Bellazzi, R, Nicora, G, Rizzo, E, Limongelli, I, Mezlini, A M, Chang, R, Kim, S, Lai, C, O’Connor, R, Topper, S, van den Akker, J, Zhou, A Y, Zimmer, A D, Mishne, G, Bergquist, T R, Breese, M R, Guerrero, R F, Jiang, Y, Kiga, N, Li, B, Mort, M, Pagel, K A, Pejaver, V, Stamboulian, M H, Thusberg, J, Mooney, S D, Teerakulkittipong, N, Cao, C, Kundu, K, Yin, Y, Yu, C-H, Kleyman, M, Lin, C-F, Stackpole, M, Mount, S M, Eraslan, G K, Mueller, N S, Naito, T, Rao, A R, Azaria, J R, Brodie, A, Ofran, Y, Garg, A, Pal, D, Hawkins-Hooker, A, Kenlay, H, Reid, J, Mucaki, E J, Rogan, P K, Schwarz, J M, Searls, D B, Lee, G R, Seok, C, Krämer, A, Shah, S, Huang, C V, Kirsch, J F, Shatsky, M, Cao, Y, Chen, H, Karimi, M, Moronfoye, O, Sun, Y, Shen, Y, Shigeta, R, Ford, C T, Nodzak, C, Uppal, A, Shi, X, Joseph, T, Kotte, S, Rana, S, Rao, A, Saipradeep, V G, Sivadasan, N, Sunderam, U, Stanke, M, Su, A, Adzhubey, I, Jordan, D M, Sunyaev, S, Rousseau, F, Schymkowitz, J, van Durme, J, Tavtigian, S V, Carraro, M, Giollo, M, Tosatto, S C E, Adato, O, Carmel, L, Cohen, N E, Fenesh, T, Holtzer, T, Juven-Gershon, T, Unger, R, Niroula, A, Olatubosun, A, Väliaho, J, Yang, Y, Vihinen, M, Wahl, M E, Chang, B, Chong, K C, Hu, I, Sun, R, Wu, W K K, Xia, X, Zee, B C, Wang, M H, Wang, M, Wu, C, Lu, Y, Chen, K, Yang, Y, Yates, C M, Kreimer, A, Yan, Z, Yosef, N, Zhao, H, Wei, Z, Yao, Z, Zhou, F, Folkman, L, Zhou, Y, Daneshjou, R, Altman, R B, Inoue, F, Ahituv, N, Arkin, A P, Lovisa, F, Bonvini, P, Bowdin, S, Gianni, S, Mantuano, E, Minicozzi, V, Novak, L, Pasquo, A, Pastore, A, Petrosino, M, Puglisi, R, Toto, A, Veneziano, L, Chiaraluce, R, Ball, M P, Bobe, J R, Church, G M, Consalvi, V, Cooper, D N, Buckley, B A, Sheridan, M B, Cutting, G R, Scaini, M C, Cygan, K J, Fredericks, A M, Glidden, D T, Neil, C, Rhine, C L, Fairbrother, W G, Alontaga, A Y, Fenton, A W, Matreyek, K A, Starita, L M, Fowler, D M, Löscher, B-S, Franke, A, Adamson, S I, Graveley, B R, Gray, J W, Malloy, M J, Kane, J P, Kousi, M, Katsanis, N, Schubach, M, Kircher, M, Mak, A C Y, Tang, P L F, Kwok, P-Y, Lathrop, R H, Clark, W T, Yu, G K, LeBowitz, J H,Benedicenti , F, Bettella, E, Bigoni, S, Cesca, F, Mammi, I, Marino-Buslje, C, Milani, D, Peron, A, Polli, R, Sartori, S, Stanzial, F, Toldo, I, Turolla, L, Aspromonte, M C, Bellini, M, Leonardi, E, Liu, X, Marshall, C, McCombie, W R, Elefanti, L, Menin, C, Meyn, M S, Murgia, A, Nadeau, K C Y, Neuhausen, S L, Nussbaum, R L, Pirooznia, M, Potash, J B, Dimster-Denk, D F, Rine, J D, Sanford, J R, Snyder, M, Cote, A G, Sun, S, Verby, M W, Weile, J, Roth, F P, Tewhey, R, Sabeti, P C, Campagna, J, Refaat, M M, Wojciak, J, Grubb, S, Schmitt, N, Shendure, J, Spurdle, A B, Stavropoulos, D J, Walton, N A, Zandi, P P, Ziv, E, Burke, W, Chen, F, Carr, L R, Martinez, S, Paik, J, Harris-Wai, J, Yarborough, M, Fullerton, S M, Koenig, B A, McInnes, G, Shigaki, D, Chandonia, J-M, Furutsuki, M, Kasak, L, Yu, C, Chen, R, Friedberg, I, Getz, G A, Cong, Q, Kinch, L N, Zhang, J, Grishin, N V, Voskanian, A, Kann, M G, Tran, E, Ioannidis, N M, Hunter, J M, Udani, R, Cai, B, Morgan, A A, Sokolov, A, Stuart, J M, Minervini, G, Monzon, A M, Batzoglou, S, Butte, A J, Greenblatt, M S, Hart, R K, Hernandez, R, Hubbard, T J P, Kahn, S, O’Donnell-Luria, A, Ng, P C, Shon, J, Veltman, J & The Critical Assessment of Genome Interpretation Consortium 2024, 'CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods', Genome Biology, vol. 25, no. 1, 53. https://doi.org/10.1186/s13059-023-03113-6
Genome Biology, vol 25, iss 1
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
GENOME BIOLOGY
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Genome Biology, Vol 25, Iss 1, Pp 1-46 (2024)
Jain, S, Bakolitsa, C, Brenner, S E, Radivojac, P, Moult, J, Repo, S, Hoskins, R A, Andreoletti, G, Barsky, D, Chellapan, A, Chu, H, Dabbiru, N, Kollipara, N K, Ly, M, Neumann, A J, Pal, L R, Odell, E, Pandey, G, Peters-Petrulewicz, R C, Srinivasan, R, Yee, S F, Yeleswarapu, S J, Zuhl, M, Adebali, O, Patra, A, Beer, M A, Hosur, R, Peng, J, Bernard, B M, Berry, M, Dong, S, Boyle, A P, Adhikari, A, Chen, J, Hu, Z, Wang, R, Wang, Y, Miller, M, Wang, Y, Bromberg, Y, Turina, P, Capriotti, E, Han, J J, Ozturk, K, Carter, H, Babbi, G, Bovo, S, di Lena, P, Martelli, P L, Savojardo, C, Casadio, R, Cline, M S, de Baets, G, Bonache, S, Díez, O, Gutiérrez-Enríquez, S, Fernández, A, Montalban, G, Ootes, L, Özkan, S, Padilla, N, Riera, C, de la Cruz, X, Diekhans, M, Huwe, P J, Wei, Q, Xu, Q, Dunbrack, R L, Gotea, V, Elnitski, L, Margolin, G, Fariselli, P, Kulakovskiy, I V, Makeev, V J, Penzar, D D, Vorontsov, I E, Favorov, A V, Forman, J R, Hasenahuer, M, Fornasari, M S, Parisi, G, Avsec, Z, Çelik, M H, Nguyen, T Y D, Gagneur, J, Shi, F-Y, Edwards, M D, Guo, Y, Tian, K, Zeng, H, Gifford, D K, Göke, J, Zaucha, J, Gough, J, Ritchie, G R S, Frankish, A, Mudge, J M, Harrow, J, Young, E L, Yu, Y, Huff, C D, Murakami, K, Nagai, Y, Imanishi, T, Mungall, C J, Jacobsen, J O B, Kim, D, Jeong, C-S, Jones, D T, Li, M J, Guthrie, V B, Bhattacharya, R, Chen, Y-C, Douville, C, Fan, J, Kim, D, Masica, D, Niknafs, N, Sengupta, S, Tokheim, C, Turner, T N, Yeo, H T G, Karchin, R, Shin, S, Welch, R, Keles, S, Li, Y, Kellis, M, Corbi-Verge, C, Strokach, A V, Kim, P M, Klein, T E, Mohan, R, Sinnott-Armstrong, N A, Wainberg, M, Kundaje, A, Gonzaludo, N, Mak, A C Y, Chhibber, A, Lam, H Y K, Dahary, D, Fishilevich, S, Lancet, D, Lee, I, Bachman, B, Katsonis, P, Lua, R C, Wilson, S J, Lichtarge, O, Bhat, R R, Sundaram, L, Viswanath, V, Bellazzi, R, Nicora, G, Rizzo, E, Limongelli, I, Mezlini, A M, Chang, R, Kim, S, Lai, C, O’Connor, R, Topper, S, van den Akker, J, Zhou, A Y, Zimmer, A D, Mishne, G, Bergquist, T R, Breese, M R, Guerrero, R F, Jiang, Y, Kiga, N, Li, B, Mort, M, Pagel, K A, Pejaver, V, Stamboulian, M H, Thusberg, J, Mooney, S D, Teerakulkittipong, N, Cao, C, Kundu, K, Yin, Y, Yu, C-H, Kleyman, M, Lin, C-F, Stackpole, M, Mount, S M, Eraslan, G K, Mueller, N S, Naito, T, Rao, A R, Azaria, J R, Brodie, A, Ofran, Y, Garg, A, Pal, D, Hawkins-Hooker, A, Kenlay, H, Reid, J, Mucaki, E J, Rogan, P K, Schwarz, J M, Searls, D B, Lee, G R, Seok, C, Krämer, A, Shah, S, Huang, C V, Kirsch, J F, Shatsky, M, Cao, Y, Chen, H, Karimi, M, Moronfoye, O, Sun, Y, Shen, Y, Shigeta, R, Ford, C T, Nodzak, C, Uppal, A, Shi, X, Joseph, T, Kotte, S, Rana, S, Rao, A, Saipradeep, V G, Sivadasan, N, Sunderam, U, Stanke, M, Su, A, Adzhubey, I, Jordan, D M, Sunyaev, S, Rousseau, F, Schymkowitz, J, van Durme, J, Tavtigian, S V, Carraro, M, Giollo, M, Tosatto, S C E, Adato, O, Carmel, L, Cohen, N E, Fenesh, T, Holtzer, T, Juven-Gershon, T, Unger, R, Niroula, A, Olatubosun, A, Väliaho, J, Yang, Y, Vihinen, M, Wahl, M E, Chang, B, Chong, K C, Hu, I, Sun, R, Wu, W K K, Xia, X, Zee, B C, Wang, M H, Wang, M, Wu, C, Lu, Y, Chen, K, Yang, Y, Yates, C M, Kreimer, A, Yan, Z, Yosef, N, Zhao, H, Wei, Z, Yao, Z, Zhou, F, Folkman, L, Zhou, Y, Daneshjou, R, Altman, R B, Inoue, F, Ahituv, N, Arkin, A P, Lovisa, F, Bonvini, P, Bowdin, S, Gianni, S, Mantuano, E, Minicozzi, V, Novak, L, Pasquo, A, Pastore, A, Petrosino, M, Puglisi, R, Toto, A, Veneziano, L, Chiaraluce, R, Ball, M P, Bobe, J R, Church, G M, Consalvi, V, Cooper, D N, Buckley, B A, Sheridan, M B, Cutting, G R, Scaini, M C, Cygan, K J, Fredericks, A M, Glidden, D T, Neil, C, Rhine, C L, Fairbrother, W G, Alontaga, A Y, Fenton, A W, Matreyek, K A, Starita, L M, Fowler, D M, Löscher, B-S, Franke, A, Adamson, S I, Graveley, B R, Gray, J W, Malloy, M J, Kane, J P, Kousi, M, Katsanis, N, Schubach, M, Kircher, M, Mak, A C Y, Tang, P L F, Kwok, P-Y, Lathrop, R H, Clark, W T, Yu, G K, LeBowitz, J H,
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