BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

Autor: Cline, M.S., Liao, R.G., Parsons, M.T., Paten, B., Alquaddoomi, F., Antoniou, A., Baxter, S., Brody, L., Cook-Deegan, R., Coffin, A., Couch, F.J., Craft, B., Currie, R., Dlott, C.C., Dolman, L., Dunnen, J.T. den, Dyke, S.O.M., Domchek, S.M., Easton, D., Fischmann, Z., Foulkes, W.D., Garber, J., Goldgar, D., Goldman, M.J., Goodhand, P., Harrison, S., Haussler, D., Kato, K., Knoppers, B., Markello, C., Nussbaum, R., Offit, K., Plon, S.E., Rashbass, J., Rehm, H.L., Robson, M., Rubinstein, W.S., Stoppa-Lyonnet, D., Tavtigian, S., Thorogood, A., Zhang, C., Zimmermann, M., Burn, J., Chanock, S., Ratsch, G., Spurdle, A.B., Andreoletti, G., Baker, D., Brenner, S., Brush, M., Caputo, S., Castera, L., Cunningham, F., Hoya, M. de la, Diekhans, M., Dolinsky, J., Dwight, S., Eccles, D., Feng, B., Fiume, M., Flicek, P., Gaudet, P., Garcia, E.G., Haendel, M., Haeussler, M., Hahnen, E., Houdayer, C., Hunt, S., James, P., Lebo, M., Lee, J., Lerner-Ellis, J., Lin, M., Lincoln, S., Malheiro, A., Mesenkamp, A., Monteiro, A., Natzijl-Visser, E., Ngeow, J., North, K., Parkinson, H., Paschall, J., Patrinos, G., Phimister, B., Radice, P., Rainville, I., Rasmussen, M., Riley, G., Rouleau, E., Schmutzler, R., Shefchek, K., Sofia, H., Southey, M., Stuart, J., Thomas, J., Toland, A., Truty, R., Turn-Bull, C., Vaur, D., Vreeswijk, M.P.G., Walker, L., Walsh, M., Wappenschmidt, B., Weitzel, J., Wright, M., Zalunin, V., Zaranek, A., Zerbino, D., Zhou, A., Zhou, J., Zook, J., BRCA Challenge Authors

Publikováno v: PLoS genetics, vol 14, iss 12
PLoS Genetics, 14(12)
PLoS Genetics, Vol 14, Iss 12, p e1007752 (2018)
PLoS Genetics
PLoS Genetics, 14 (12)

The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate BRCA1 and BRCA2 data to support highly collaborative research activities. Its goal is to generate an informed and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22d8e36fe04f1b82a22eba593f3843f4
https://escholarship.org/uc/item/6x747309

Correction: A european spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics (PLoS ONE (2016) 11:9 (e0162866) DOI: 10.1371/journal.pone.0162866)

Autor: Mizzi, C., Dalabira, E., Kumuthini, J., Dzimiri, N., Balogh, István, Başak, N., Böhm, R., Borg, J., Borgiani, P., Bozina, N., Bruckmueller, B., Burzynska, B., Carracedo, A., Cascorbi, I., Constantinou-Deltas, Constantinos D., Dolzan, V., Fenech, A., Grech, G., Kasiulevicius, V., Kádaši, D., Kučinskas, V., Khusnutdinova, E., Loukas, Y. L., Macek, M., Jr., Makukh, H., Mathijssen, R., Mitropoulos, K., Mitropoulou, C., Novelli, G., Papantoni, I., Pavlovic, S., Saglio, G., Setric, J., Stojiljkovic, M., Stubbs, A. P., Squassina, A., Torres, M., Turnovec, M., van Schaik, R. H., Voskarides, Konstantinos, Wakil, S. M., Werk, A., del Zompo, M., Zukic, B., Katsila, T., Ta Michael Lee, M., Motsinger-Rief, A., Mc Leod, H. L., van der Spek, P. J., Patrinos, G. P.

Publikováno v: PLoS ONE

The thirty-Third author's name is spelled incorrectly. The correct name is: Jadranka Sertić. © 2017 Mizzi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4485::aed7f31b335d222868eb336843d3b117
http://gnosis.library.ucy.ac.cy/handle/7/53251

A European spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics

Autor: Mizzi, C., Dalabira, E., Kumuthini, J., Dzimiri, N., Balogh, István, Başak, N., Böhm, R., Borg, J., Borgiani, P., Bozina, N., Bruckmueller, H., Burzynska, B., Carracedo, A., Cascorbi, I., Constantinou-Deltas, Constantinos D., Dolzan, V., Fenech, A., Grech, G., Kasiulevicius, V., Kádaši, L., Kučinskas, V., Khusnutdinova, E., Loukas, Y. L., Macek, M., Makukh, H., Mathijssen, R., Mitropoulos, K., Mitropoulou, C., Novelli, G., Papantoni, I., Pavlovic, S., Saglio, G., Setric, J., Stojiljkovic, M., Stubbs, A. P., Squassina, A., Torres, M., Turnovec, M., Van Schaik, R. H., Voskarides, Konstantinos, Wakil, S. M., Werk, A., Zompo, M. D., Zukic, B., Katsila, T., Lee, M. T. M., Motsinger-Rief, A., Leod, H. L. M., Van Der Spek, P. J., Patrinos, G. P.

Publikováno v: PlosOne, San Francisko, Public Library of Science, 2016, Vol. 11, No. 9, e0162866
PLoS ONE
PLoS One, San Francisco, CA : Public Library of Science, 2016, Vol. 11, No. 9, art. no. e0162866, p. [1-19]
PLoS ONE, Vol 11, Iss 9, p e0162866 (2016)
PLoS One (print), 11(9):e0162866. Public Library of Science

Acknowledgments: The Euro-PGx project was partly funded by European grant (RD-Connect; FP7-305444) and the Golden Helix Foundation and encouraged by the Genomic Medicine Alliance Pharmacogenomics Working group. The Lithuanian segment of the project w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::789281e8b988f28ffa6a64857b8ee74c
http://hdl.handle.net/2318/1650482

The cypriot and Iranian National Mutation Frequency Databases

Autor: Kleanthous, Marios, Patsalis, Philippos C., Drousiotou, Anthi, Motazacker, M., Christodoulou, Kyproula, Cariolou, Marios A., Baysal, E., Khrizi, K., Moghimi, B., Pourfarzad, F., van Baal, S., Constantinou-Deltas, Constantinos D., Najmabadi, H., Patrinos, G. P.

Publikováno v: Human mutation.
Hum.Mutat.

The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the construction of the Cypriot (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4485::8153bed2e47440d9388f38d640008d5f
http://gnosis.library.ucy.ac.cy/handle/7/53185

EPA-1239 – Individualizing clozapine and risperidone treatment for schizophrenia patients

Autor: Tsermpini, E., Assimakopoulos, K., Iconomou, G., Merkouri-Papadima, E., Mitropoulos, K., Squassina, A., Patrinos, G.

Publikováno v: In European Psychiatry 2014 29 Supplement 1:1-1