Publications
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Malekkou A, Sevastou I, Mavrikiou G, Georgiou T, Vilageliu L, Moraitou M, Michelakakis H, Prokopiou C and Drousiotou A.
A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.
Molecular genetics & genomic medicine . 8(3): . Number of citations: 11
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Beneto N, Cozar M, Castilla-Vallmanya L, Zetterdahl OG, Sacultanu M, Segur-Bailach E, García-Morant M, Ribes A, Ahlenius H, Grinberg-Vaisman DR, Vilageliu L and Canals I.
Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development.
Journal of Clinical Medicine . 9(3): . Number of citations: 9
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Urreizti R, Lopez-Martin E, Martinez-Monseny T, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan-Gordo M, Grinberg-Vaisman DR, Bermejo-Sánchez E and Balcells S.
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
ORPHANET JOURNAL OF RARE DISEASES . 15(1): 44-44. Number of citations: 26
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Campbell, PJ, Getz G, Korbel, JO, Stuart, JM, Jennings, JL, Stein, LD, Perry, MD, Nahal-Bose, HK, Ouellette, BFF, Li, CH, Rheinbay, E, Nielsen, GP, Sgroi, DC, Wu, CL, Faquin, WC, Deshpande, V, Boutros, PC, Lazar, AJ, Hoadley, KA, Louis, DN, Dursi, LJ, Yung, CK, Bailey, MH, Saksena, G, Raine, KM, Buchhalter, I, Kleinheinz, K, Schlesner, M, Zhang, J, Wang, W, Wheeler, DA, Ding, L, Simpson, JT, O'Connor, BD, Yakneen, S, Ellrott, K, Miyoshi, N, Butler, AP, Royo, R, Shorser, SI, Vazquez, M, Rausch, T, Tiao, G, Waszak, SM, Rodriguez-Martin, B, Shringarpure, S, Wu, DY, Demidov, GM, Delaneau, O, Hayashi, S, Imoto, S, Habermann, N, Segre, AV, Garrison, E, Cafferkey, A, Alvarez, EG, Heredia-Genestar, JM, Muyas, F, Drechsel, O, Bruzos, AL, Temes, J, Zamora, J, Baez-Ortega, A, Kim, HL, Mashl, RJ, Ye, K, DiBiase, A, Huang, KL, Letunic, I, McLellan, MD, Newhouse, SJ, Shmaya, T, Kumar, S, Wedge, DC, Wright, MH, Yellapantula, VD, Gerstein, M, Khurana, E, Marques-Bonet, T, Navarro, A, Bustamante, CD, Siebert, R, Nakagawa, H, Easton, DF, Ossowski, S, Tubio, JMC, De La Vega, FM, Estivill, X, Yuen, D, Mihaiescu, GL, Omberg, L, Ferretti, V, Sabarinathan, R, Pich, O, Gonzalez-Perez, A, Weiner, AT, Fittall, MW, Demeulemeester, J, Tarabichi, M, Roberts, ND, Van Loo, P, Cortes-Ciriano, I, Urban, L, Park, P, Bin Zhu, Pitkaenen, E, Li, Y, Saini, N, Klimczak, LJ, Weischenfeldt, J, Sidiropoulos, N, Alexandrov, LB, Rabionet-Janssen R, Escaramis, G, Bosio M, Holik, AZ, Susak, H, Prasad, A, Erkek, S, Calabrese, C, Raeder, B, Harrington, E, Mayes, S, Turner, D, Juul, S, Roberts, SA, Song, L, Koster, R, Mirabello, L, Hua, X, Tanskanen, TJ, Tojo, M, Chen, J, Aaltonen, LA, Ratsch, G, Schwarz, RF, Butte, AJ, Brazma, A, Chanock, SJ, Chatterjee, N, Stegle, O, Harismendy, O, Bova, GS, Gordenin, DA, Haan, D, Sieverling, L, Feuerbach, L, Chalmers, D, Joly, Y, Knoppers, B, Molnar-Gabor, F, Phillips, M, Thorogood, A, Townend, D, Goldman, M, Fonseca, NA, Xiang, Q, Craft, B, Pineiro-Yanez, E, Munoz, A, Petryszak, R, Fullgrabe, A, Al-Shahrour, F, Keays, M, Haussler, D, Weinstein, J, Huber, W, Valencia, A, Papatheodorou, I, Zhu, J, Fan, Y, Torrents, D, Bieg, M, Chen, K, Chong, Z, Cibulskis, K, Eils, R, Fulton, RS, Gelpi, JL, Gonzalez, S, Gut, IG, Hach, F, Heinold, M, Hu, T, Huang, V, Hutter, B, Jaeger, N, Jung, J, Kumar, Y, Lalansingh, C, Leshchiner, I, Livitz, D, Ma, EZ, Maruvka, YE, Milovanovic, A, Nielsen, MM, Paramasivam, N, Pedersen, JS, Puiggros, M, Sahinalp, SC, Sarrafi, I, Stewart, C, Stobbe, MD, Wala, JA, Wang, J, Wendl, M, Werner, J, Wu, Z, Xue, H, Yamaguchi, TN, Yellapantula, V, Davis-Dusenbery, BN, Grossman, RL, Kim, Y, Heinold, MC, Hinton, J, Jones, DR, Menzies, A, Stebbings, L, Hess, JM, Rosenberg, M, Dunford, AJ, Gupta, M, Imielinski, M, Meyerson, M, Beroukhim, R, Reimand, J, Dhingra, P, Favero, F, Dentro, S, Wintersinger, J, Rudneva, V, Park, JW, Hong, EP, Heo, SG, Kahles, A, Kjong-Van Lehmann, Soulette, CM, Shiraishi, Y, Liu, F, He, Y, Demircioglu, D, Davidson, NR, Greger, L, Li, S, Liu, D, Stark, SG, Zhang, F, Amin, SB, Bailey, P, Chateigner, A, Frenkel-Morgenstern, M, Hou, Y, Huska, MR, Kilpinen, H, Lamaze, FC, Li, C, Li, X, Li, X, Liu, X, Marin, MG, Markowski, J, Nandi, T, Ojesina, AI, Pan-Hammarstrom, Q, Park, PJ, Pedamallu, CS, Su, H, Tan, P, Teh, B, Wang, J, Xiong, H, Ye, C, Yung, C, Zhang, XQ, Zheng, LT, Zhu, S, Awadalla, P, Creighton, CJ, Wu, K, Yang, HM, Goke, J, Zhang, Z, Brooks, AN, Martincorena, I, Rubio-Perez, C, Juul, M, Schumacher, S, Shapira, O, Tamborero, D, Mularoni, L, Hornshoj, H, Deu-Pons, J, Muinos, F, Bertl, J, Guo, Q, Bazant, W, Barrera, E, Al-Sedairy, ST, Aretz, A, Bell, C, Betancourt, M, Buchholz, C, Calvo, F, Chomienne, C, Dunn, M, Edmonds, S, Green, E, Gupta, S, Hutter, CM, Jegalian, K, Jones, N, Lu, YY, Nakagama, H, Nettekoven, G, Planko, L, Scott, D, Shibata, T, Shimizu, K, Stratton, MR, Yugawa, T, Tortora, G, VijayRaghavan, K, Zenklusen, JC, Knoppers, BM, Aminou, B, Bartolome, J, Boroevich, KA, Boyce, R, Buchanan, A, Byrne, NJ, Chen, Z, Cho, S, Choi, W, Clapham, P, Dow, MT, Dursi, LJ, Eils, J, Farcas, C, Fayzullaev, N, Flicek, P, Heath, AP, Hofmann, O, Hong, JH, Hudson, TJ, Huebschmann, D, Ivkovic, S, Jeon, SH, Jiao, W, Kabbe, R, Kerssemakers, JNA, Kim, H, Kim, J, Koscher, M, Koures, A, Kovacevic, M, Lawerenz, C, Liu, J, Mijalkovic, S, Mijalkovic-Lazic, AM, Miyano, S, Nastic, M, Nicholson, J, Ocana, D, Ohi, K, Ohno-Machado, L, Pihl, TD, Prinz, M, Radovic, P, Short, C, Sofia, HJ, Spring, J, Struck, AJ, Tijanic, N, Vicente, D, Wang, Z, Williams, A, Woo, Y, Wright, AJ, Yang, L, Hamilton, MP, Johnson, TA, Kahraman, A, Kellis, M, Polak, P, Sallari, R, Sinnott-Armstrong, N, von Mering, C, Beltran, S, Gerhard, DS, Gut, M, Trotta, JR, Whalley, JP, Niu, B, Espiritu, SMG, Gao, S, Huang, Y, Lalansingh, CM, Teague, JW, Wendl, MC, Abascal, F, Bader, GD, Bandopadhayay, P, Barenboim, J, Brunak, S, Fita, JC, Chakravarty, D, Chan, CWY, Choi, JK, Diamanti, K, Fink, JL, Frigola, J, Gambacorti-Passerini, C, Garsed, DW, Haradhvala, NJ, Harmanci, AO, Helmy, M, Herrmann, C, Hobolth, A, Hodzic, E, Hong, C, Isaev, K, Izarzugaza, JMG, Johnson, R, Juul, RI, Kim, J, Kim, JK, Komorowski, J, Lanzos, A, Larsson, E, Lee, D, Li, S, Li, X, Lin, Z, Liu, EM, Lochovsky, L, Lou, S, Madsen, T, Marchal, K, Fundichely, AM, McGillivray, PD, Meyerson, W, Paczkowska, M, Park, K, Park, K, Pons, T, Pulido-Tamayo, S, Salazar, IR, Reyna, MA, Rubin, MA, Salichos, L, Sander, C, Schumacher, SE, Shackleton, M, Shen, C, Shrestha, R, Shuai, S, Tsunoda, T, Umer, HM, Uuskula-Reimand, L, Verbeke, LPC, Wadelius, C, Wadi, L, Warrell, J, Wu, G, Yu, J, Zhang, J, Zhang, X, Zhang, Y, Zhao, Z, Zou, L, Lawrence, MS, Raphael, BJ, Bailey, PJ, Craft, D, Goldman, MJ, Aburatani, H, Binder, H, Dinh, HQ, Heath, SC, Hoffmann, S, Imbusch, CD, Kretzmer, H, Laird, PW, Martin-Subero, JI, Nagae, G, Shen, H, Wang, Q, Weichenhan, D, Zhou, W, Berman, BP, Brors, B, Plass, C, Akdemir, KC, Bowtell, DDL, Burns, KH, Busanovich, J, Chan, K, Dueso-Barroso, A, Edwards, PA, Etemadmoghadam, D, Haber, JE, Jones, DTW, Ju, YS, Kazanov, MD, Koh, Y, Kumar, K, Lee, EA, Lee, JJK, Lynch, AG, Macintyre, G, Markowetz, F, Navarro, FCP, Pearson, JV, Rippe, K, Scully, R, Villasante, I, Waddell, N, Yang, L, Yao, X, Yoon, SS, Zhang, CZ, Bergstrom, EN, Boot, A, Covington, K, Fujimoto, A, Huang, MN, Islam, SMA, McPherson, JR, Morganella, S, Mustonen, V, Ng, AWT, Prokopec, SD, Vazquez-Garcia, I, Wu, Y, Yousif, F, Yu, W, Rozen, SG, Rudneva, VA, Shringarpure, SS, Turner, DJ, Xia, T, Atwal, G, Chang, DK, Cooke, SL, Faltas, BM, Haider, S, Kaiser, VB, Karlic, R, Kato, M, Kubler, K, Margolin, A, Martin, S, Nik-Zainal, S, P'ng, C, Semple, CA, Smith, J, Sun, RX, Thai, K, Wright, DW, Yuan, K, Biankin, AV, Garraway, L, Grimmond, SM, Adams, DJ, Anur, P, Cao, S, Christie, EL, Cmero, M, Cun, Y, Dawson, KJ, Dentro, SC, Deshwar, AG, Donmez, N, Drews, RM, Gerstung, M, Ha, G, Haase, K, Jerman, L, Ji, Y, Jolly, C, Lee, J, Lee-Six, H, Malikic, S, Mitchell, TJ, Morris, QD, Oesper, L, Peifer, M, Peto, M, Rosebrock, D, Rubanova, Y, Salcedo, A, Sengupta, S, Shi, R, Shin, SJ, Spiro, O, Vembu, S, Wintersinger, JA, Yang, TP, Yu, K, Zhu, H, Spellman, PT, Weinstein, JN, Chen, Y, Fujita, M, Han, L, Hasegawa, T, Komura, M, Li, J, Mizuno, S, Shimizu, E, Wang, Y, Xu, Y, Yamaguchi, R, Yang, F, Yang, Y, Yoon, CJ, Yuan, Y, Liang, H, Alawi, M, Borozan, I, Brewer, DS, Cooper, CS, Desai, N, Grundhoff, A, Iskar, M, Su, X, Zapatka, M, Lichter, P, Alsop, K, Bruxner, TJC, Christ, AN, Cordner, SM, Cowin, PA, Drapkin, R, Fereday, S, George, J, Hamilton, A, Holmes, O, Hung, JA, Kassahn, KS, Kazakoff, SH, Kennedy, CJ, Leonard, CR, Mileshkin, L, Miller, DK, Arnau, GM, Mitchell, C, Newell, F, Nones, K, Patch, AM, Quinn, MC, Taylor, DF, Thorne, H, Traficante, N, Vedururu, R, Waddell, NM, Waring, PM, Wood, S, Xu, Q, DeFazio, A, Anderson, MJ, Antonello, D, Barbour, AP, Bassi, C, Bersani, S, Cataldo, I, Chantrill, LA, Chiew, YE, Chou, A, Cingarlini, S, Cloonan, N, Corbo, V, Davi, MV, Duthie, FR, Gill, AJ, Graham, JS, Harliwong, I, Jamieson, NB, Johns, AL, Kench, JG, Landoni, L, Lawlor, RT, Mafficini, A, Merrett, ND, Miotto, M, Musgrove, EA, Nagrial, AM, Oien, KA, Pajic, M, Pinese, M, Robertson, AJ, Rooman, I, Rusev, BC, Samra, JS, Scardoni, M, Scarlett, CJ, Scarpa, A, Sereni, E, Sikora, KO, Simbolo, M, Taschuk, ML, Toon, CW, Vicentini, C, Wu, J, Zeps, N, Behren, A, Burke, H, Cebon, J, Dagg, RA, De Paoli-Iseppi, R, Dutton-Regester, K, Field, MA, Fitzgerald, A, Hersey, P, Jakrot, V, Johansson, PA, Kakavand, H, Kefford, RF, Lau, LMS, Long, GV, Pickett, HA, Pritchard, AL, Pupo, GM, Saw, RPM, Schramm, SJ, Shang, CA, Shang, P, Spillane, AJ, Stretch, JR, Tembe, V, Thompson, JF, Vilain, RE, Wilmott, JS, Yang, JY, Hayward, NK, Mann, GJ, Scolyer, RA, Bartlett, J, Bavi, P, Chadwick, DE, Chan-Seng-Yue, M, Cleary, S, Connor, AA, Czajka, K, Denroche, RE, Dhani, NC, Eagles, J, Gallinger, S, Grant, RC, Hedley, D, Hollingsworth, MA, Jang, GH, Johns, J, Kalimuthu, S, Liang, SB, Lungu, I, Luo, X, Mbabaali, F, McPherson, TA, Miller, JK, Moore, MJ, Notta, F, Pasternack, D, Petersen, GM, Roehrl, MHA, Sam, M, Selander, I, Serra, S, Shahabi, S, Thayer, SP, Timms, LE, Wilson, GW, Wilson, JM, Wouters, BG, McPherson, JD, Beck, TA, Bhandari, V, Collins, CC, Fleshner, NE, Fox, NS, Fraser, M, Heisler, LE, Lalonde, E, Livingstone, J, Meng, A, Sabelnykova, VY, Shiah, YJ, Van Der Kwast, T, Bristow, RG, Ding, S, Fan, D, Li, L, Nie, Y, Xiao, X, Xing, R, Yang, SL, Yu, YY, Zhou, Y, Banks, RE, Bourque, G, Brennan, P, Letourneau, L, Riazalhosseini, Y, Scelo, G, Vasudev, N, Viksna, J, Lathrop, M, Tost, J, Ahn, SM, Aparicio, S, Arnould, L, Aure, MR, Bhosle, SG, Birney, E, Borg, A, Boyault, S, Brinkman, AB, Brock, JE, Broeks, A, Borresen-Dale, AL, Caldas, C, Chin, SF, Davies, H, Desmedt, C, Dirix, L, Dronov, S, Ehinger, A, Eyfjord, JE, Fatima, A, Foekens, JA, Futreal, PA, Garred, O, Giri, DD, Glodzik, D, Grabau, D, Hilmarsdottir, H, Hooijer, GK, Jacquemier, J, Jang, SJ, Jonasson, JG, Jonkers, J, Kim, HY, King, TA, Knappskog, S, Kong, G, Krishnamurthy, S, Lakhani, SR, Langerod, A, Larsimont, D, Lee, HJ, Lee, JY, Lee, MTM, Lingjaerde, OC, MacGrogan, G, Martens, JWM, O'Meara, S, Pauporte, I, Pinder, S, Pivot, X, Provenzano, E, Purdie, CA, Ramakrishna, M, Ramakrishnan, K, Reis, J, Richardson, AL, Ringner, M, Rodriguez, JB, Rodriguez-Gonzalez, FG, Romieu, G, Salgado, R, Sauer, T, Shepherd, R, Sieuwerts, AM, Simpson, PT, Smid, M, Sotiriou, C, Span, PN, Stefansson, OA, Stenhouse, A, Stunnenberg, HG, Sweep, F, Tan, BKT, Thomas, G, Thompson, AM, Tommasi, S, Treilleux, I, Tutt, A, Ueno, NT, Van Laere, S, Van den Eynden, GG, Vermeulen, P, Viari, A, Vincent-Salomon, A, Wong, BH, Yates, L, Zou, X, van Deurzen, CHM, van de Vijver, MJ, van't Veer, L, Ammerpohl, O, Aukema, S, Bergmann, AK, Bernhart, SH, Borkhardt, A, Borst, C, Burkhardt, B, Claviez, A, Goebler, ME, Haake, A, Haas, S, Hansmann, M, Hoell, JI, Hummel, M, Karsch, D, Klapper, W, Kneba, M, Kreuz, M, Kube, D, Kueppers, R, Lenze, D, Loeffler, M, Lopez, C, Mantovani-Loeffler, L, Moeller, P, Ott, G, Radlwimmer, B, Richter, J, Rohde, M, Rosenstiel, PC, Rosenwald, A, Schilhabel, MB, Schreiber, S, Stadler, PF, Staib, P, Stilgenbauer, S, Sungalee, S, Szczepanowski, M, Toprak, UH, Truemper, LHP, Wagener, R, Zenz, T, Hovestadt, V, von Kalle, C, Kool, M, Korshunov, A, Landgraf, P, Lehrach, H, Northcott, PA, Pfister, SM, Reifenberger, G, Warnatz, HJ, Wolf, S, Yaspo, ML, Assenov, Y, Gerhauser, C, Minner, S, Schlomm, T, Simon, R, Sauter, G, Sueltmann, H, Biswas, NK, Maitra, A, Majumder, PP, Sarin, R, Barbi, S, Bonizzato, G, Cantu, C, Dei Tos, AP, Fassan, M, Grimaldi, S, Luchini, C, Malleo, G, Marchegiani, G, Milella, M, Paiella, S, Pea, A, Pederzoli, P, Ruzzenente, A, Salvia, R, Sperandio, N, Arai, Y, Hama, N, Hiraoka, N, Hosoda, F, Nakamura, H, Ojima, H, Okusaka, T, Totoki, Y, Urushidate, T, Fukayama, M, Ishikawa, S, Katai, H, Katoh, H, Komura, D, Rokutan, H, Saito-Adachi, M, Suzuki, A, Taniguchi, H, Tatsuno, K, Ushiku, T, Yachida, S, Yamamoto, S, Aikata, H, Arihiro, K, Ariizumi, S, Chayama, K, Furuta, M, Gotoh, K, Hayami, S, Hirano, S, Kawakami, Y, Maejima, K, Nakamura, T, Nakano, K, Ohdan, H, Sasaki-Oku, A, Tanaka, H, Ueno, M, Yamamoto, M, Yamaue, H, Choo, SP, Cutcutache, I, Khuntikeo, N, Ong, CK, Pairojkul, C, Popescu, I, Ahn, KS, Aymerich, M, Lopez-Guillermo, A, Lopez-Otin, C, Puente, XS, Campo, E, Amary, F, Baumhoer, D, Behjati, S, Bjerkehagen, B, Futreal, PA, Myklebost, O, Pillay, N, Tarpey, P, Tirabosco, R, Zaikova, O, Flanagan, AM, Boultwood, J, Bowen, DT, Cazzola, M, Green, AR, Hellstrom-Lindberg, E, Malcovati, L, Nangalia, J, Papaemmanuil, E, Vyas, P, Ang, Y, Barr, H, Beardsmore, D, Eldridge, M, Gossage, J, Grehan, N, Hanna, GB, Hayes, SJ, Hupp, TR, Khoo, D, Lagergren, J, Lovat, LB, MacRae, S, O'Donovan, M, O'Neill, JR, Parsons, SL, Preston, SR, Puig, S, Roques, T, Sanders, G, Sothi, S, Tavare, S, Tucker, O, Turkington, R, Underwood, TJ, Welch, I, Fitzgerald, RC, Berney, DM, De Bono, JS, Cahill, D, Camacho, N, Dennis, NM, Dudderidge, T, Edwards, SE, Fisher, C, Foster, CS, Ghori, M, Gill, P, Gnanapragasam, VJ, Gundem, G, Hamdy, FC, Hawkins, S, Hazell, S, Howat, W, Isaacs, WB, Karaszi, K, Kay, JD, Khoo, V, Kote-Jarai, Z, Kremeyer, B, Kumar, P, Lambert, A, Leongamornlert, DA, Livni, N, Lu, YJ, Luxton, HJ, Marsden, L, Massie, CE, Matthews, L, Mayer, E, McDermott, U, Merson, S, Neal, DE, Ng, A, Nicol, D, Ogden, C, Rowe, EW, Shah, NC, Thomas, S, Thompson, A, Verrill, C, Visakorpi, T, Warren, AY, Whitaker, HC, Zhang, H, van As, N, Eeles, RA, Abeshouse, A, Agrawal, N, Akbani, R, Al Ahmadie, H, Albert, M, Aldape, K, Ally, A, Appelbaum, EL, Armenia, J, Asa, S, Auman, JT, Balasundaram, M, Balu, S, Barnholtz-Sloan, J, Bathe, OF, Baylin, SB, Benz, C, Berchuck, A, Berrios, M, Bigner, D, Birrer, M, Bodenheimer, T, Boice, L, Bootwalla, MS, Bosenberg, M, Bowlby, R, Boyd, J, Broaddus, RR, Brock, M, Brooks, D, Bullman, S, Caesar-Johnson, SJ, Carey, TE, Carlsen, R, Cerfolio, R, Chandan, VS, Chen, HW, Cherniack, AD, Chien, J, Cho, J, Chuah, E, Cibulskis, C, Cope, L, Cordes, MG, Curley, E, Czerniak, B, Danilova, L, Davis, IJ, Defreitas, T, Demchok, JA, Dhalla, N, Dhir, R, Doddapaneni, H, El-Naggar, A, Felau, I, Ferguson, ML, Finocchiaro, G, Fong, KM, Frazer, S, Friedman, W, Fronick, CC, Fulton, LA, Gabriel, SB, Gao, J, Gehlenborg, N, Gershenwald, JE, Ghossein, R, Giama, NH, Gibbs, RA, Gomez, C, Govindan, R, Hayes, DN, Hegde, AM, Heiman, DI, Heins, Z, Hepperla, AJ, Holbrook, A, Holt, RA, Hoyle, AP, Hruban, RH, Hu, J, Huang, M, Huntsman, D, Huse, J, Donahue, CAI, Ittmann, M, Jayaseelan, JC, Jefferys, SR, Jones, CD, Jones, SJM, Juhl, H, Kang, KJ, Karlan, B, Kasaian, K, Kebebew, E, Kim, HK, Korchina, V, Kundra, R, Lai, PH, Lander, E, Le, X, Lee, D, Levine, DA, Lewis, L, Ley, T, Li, HI, Lin, P, Linehan, WM, Liu, FF, Lu, Y, Lype, L, Ma, Y, Maglinte, DT, Mardis, ER, Marks, J, Marra, MA, Matthew, TJ, Mayo, M, McCune, K, Meier, SR, Meng, S, Mieczkowski, PA, Mikkelsen, T, Miller, CA, Mills, GB, Moore, RA, Morrison, C, Mose, LE, Moser, CD, Mungall, AJ, Mungall, K, Mutch, D, Muzny, DM, Myers, J, Newton, Y, Noble, MS, O'Donnell, P, O'Neill, BP, Ochoa, A, Park, JW, Parker, JS, Pass, H, Pastore, A, Pennell, NA, Perou, CM, Petrelli, N, Potapova, O, Rader, JS, Ramalingam, S, Rathmell, WK, Reuter, V, Reynolds, SM, Ringel, M, Roach, J, Roberts, LR, Robertson, AG, Sadeghi, S, Saller, C, Sanchez-Vega, F, Schadendorf, D, Schein, JE, Schmidt, HK, Schultz, N, Seethala, R, Senbabaoglu, Y, Shelton, T, Shi, Y, Shih, J, Shmulevich, I, Shriver, C, Signoretti, S, Simons, JV, Singer, S, Sipahimalani, P, Skelly, TJ, McCune, KS, Socci, ND, Soloway, MG, Sood, AK, Tam, A, Tan, D, Tarnuzzer, R, Thiessen, N, Thompson, RH, Thorne, LB, Tsao, M, Umbricht, C, Van Den Berg, DJ, Van Meir, EG, Veluvolu, U, Voet, D, Wang, L, Weinberger, P, Weisenberger, DJ, Wigle, D, Wilkerson, MD, Wilson, RK, Winterhoff, B, Wiznerowicz, M, Wong, T, Wong, W, Xi, L, Yau, C, Zhang, H, Zhang, H and Zhang, J.
Pan-cancer analysis of whole genomes
Nature . 578(7793): 82. Number of citations: 1851
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De-Ugarte, L, Balcells S, Guerri-Fernandez, R, Grinberg-Vaisman DR, Diez-Perez, A, Nogues, X and Garcia-Giralt, N.
Effect of the Tumor Suppressor miR-320a on Viability and Functionality of Human Osteosarcoma Cell Lines Compared to Primary Osteoblasts
APPLIED SCIENCES-BASEL . 10(8): . Number of citations: 3
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Castellanos E, Rosas I, Negro A, Gel B, Alibés A, Baena N, Pineda M, Pi G, Pintos G, Salvador-Hernandez H, Lazaro C, Blanco I, Vilageliu L, Brems H, Grinberg-Vaisman DR, Legius E and Serra E.
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
CLINICAL GENETICS . 97(2): 264-275. Number of citations: 18
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Beneto N, Cozar M, Gort L, Pacheco L, Vilageliu L, Grinberg-Vaisman DR and Canals I.
Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome.
STEM CELL RESEARCH . 42: 101668-101668. Number of citations: 5
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Leon E, Diaz J, Castilla-Vallmanya L, Grinberg-Vaisman DR, Balcells S and Urreizti R.
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 182(1): 201-204. Number of citations: 6
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Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg-Vaisman DR, Brinkmann U, Webb BD and Balcells S.
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