المؤلفون: Lisewski, AM, Quiros, JP, Mittal, M, Putluri, N, Sreekumar, A, Haeggstrom, JZ, Lichtarge, O

المصدر: International journal for parasitology. Drugs and drug resistance. 8(1):31-35

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:137926986Test

المؤلفون: Lord, J., Oquendo, C.J., Wai, H.A., Douglas, A.G.L., Bunyan, D.J., Wang, Y., Hu, Z., Zeng, Z., Danis, D., Katsonis, P., Williams, A., Lichtarge, O., Chang, Y., Bagnall, R.D., Mount, S.M., Matthiasardottir, B., Lin, C., Hansen, T.V.O., Leman, R., Martins, A., Houdayer, C., Krieger, S., Bakolitsa, C., Peng, Y., Kamandula, A., Radivojac, P., Baralle, D.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/208822/1/s00439-023-02624-3.pdfTest; Lord, J. orcid.org/0000-0002-0539-9343 , Oquendo, C.J., Wai, H.A. et al. (24 more authors) (2024) Predicting the impact of rare variants on RNA splicing in CAGI6. Human Genetics. ISSN 0340-6717

الإتاحة: https://doi.org/10.1007/s00439-023-02624-3Test
https://eprints.whiterose.ac.uk/208822Test/
https://eprints.whiterose.ac.uk/208822/1/s00439-023-02624-3.pdfTest

المؤلفون: Donehower, LA, Soussi, T, Korkut, A, Liu, YX, Schultz, A, Cardenas, M, Li, XB, Babur, O, Hsu, TK, Lichtarge, O, Weinstein, JN, Akbani, R, Wheeler, DA

المصدر: Cell reports. 28(11):3010-3010

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:141812641Test

المؤلفون: Lisewski, A. M., Lichtarge, O.

مصطلحات موضوعية: Quantitative Biology - Biomolecules, Nonlinear Sciences - Adaptation and Self-Organizing Systems

الوصول الحر: http://arxiv.org/abs/q-bio/0409029Test

المؤلفون: 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.

المساهمون: 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.

مصطلحات موضوعية: community challenge, critical assessment, genetic testing, phenotype prediction, variant interpretation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31144778; info:eu-repo/semantics/altIdentifier/wos/WOS:000485994200015; journal:HUMAN MUTATION; http://hdl.handle.net/11577/3307139Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068522592; http://onlinelibrary.wiley.com/journal/10.1002Test/(ISSN)1098-1004

الإتاحة: https://doi.org/10.1002/humu.23823Test
http://hdl.handle.net/11577/3307139Test

المؤلفون: Zhou N, Jiang Y, Bergquist TR, Lee AJ, Kacsoh BZ, Crocker AW, Lewis KA, Georghiou G, Nguyen HN, Hamid MN, Davis L, Dogan T, Atalay V, Rifaioglu AS, Dalkıran A, Cetin Atalay R, Zhang C, Hurto RL, Freddolino PL, Zhang Y, Bhat P, Supek F, Fernández JM, Gemovic B, Perovic VR, Davidović RS, Sumonja N, Veljkovic N, Asgari E, Mofrad MRK, Profiti G, Savojardo C, Martelli PL, Casadio R, Boecker F, Schoof H, Kahanda I, Thurlby N, McHardy AC, Renaux A, Saidi R, Gough J, Freitas AA, Antczak M, Fabris F, Wass MN, Hou J, Cheng J, Wang Z, Romero AE, Paccanaro A, Yang H, Goldberg T, Zhao C, Holm L, Törönen P, Medlar AJ, Zosa E, Borukhov I, Novikov I, Wilkins A, Lichtarge O, Chi PH, Tseng WC, Linial M, Rose PW, Dessimoz C, Vidulin V, Dzeroski S, Sillitoe I, Das S, Lees JG, Jones DT, Wan C, Cozzetto D, Fa R, Torres M, Warwick Vesztrocy A, Rodriguez JM, Tress ML, Frasca M, Notaro M, Grossi G, Petrini A, Re M, Valentini G, Mesiti M, Roche DB, Reeb J, Ritchie DW, Aridhi S, Alborzi SZ, Devignes MD, Koo DCE, Bonneau R, Gligorijević V, Barot M, Fang H, Toppo S, Lavezzo E, Falda M, Berselli M, Tosatto SCE, Carraro M, Piovesan D, Ur Rehman H, Mao Q, Zhang S, Vucetic S, Black GS, Jo D, Suh E, Dayton JB, Larsen DJ, Omdahl AR, McGuffin LJ, Brackenridge DA, Babbitt PC, Yunes JM, Fontana P, Zhang F, Zhu S, You R, Zhang Z, Dai S, Yao S, Tian W, Cao R, Chandler C, Amezola M, Johnson D, Chang JM, Liao WH, Liu YW, Pascarelli S, Frank Y, Hoehndorf R, Kulmanov M, Boudellioua I, Politano G, Di Carlo S, Benso A, Hakala K, Ginter F, Mehryary F, Kaewphan S, Björne J, Moen H, Tolvanen MEE, Salakoski T, Kihara D, Jain A, Šmuc T, Altenhoff A, Ben-Hur A, Rost B, Brenner SE, Orengo CA, Jeffery CJ, Bosco G, Hogan DA, Martin MJ, O'Donovan C, Mooney SD, Greene CS, Radivojac P, Friedberg I

المساهمون: Zhou, N, Jiang, Y, Bergquist, Tr, Lee, Aj, Kacsoh, Bz, Crocker, Aw, Lewis, Ka, Georghiou, G, Nguyen, Hn, Hamid, Mn, Davis, L, Dogan, T, Atalay, V, Rifaioglu, A, Dalkıran, A, Cetin Atalay, R, Zhang, C, Hurto, Rl, Freddolino, Pl, Zhang, Y, Bhat, P, Supek, F, Fernández, Jm, Gemovic, B, Perovic, Vr, Davidović, R, Sumonja, N, Veljkovic, N, Asgari, E, Mofrad, Mrk, Profiti, G, Savojardo, C, Martelli, Pl, Casadio, R, Boecker, F, Schoof, H, Kahanda, I, Thurlby, N, Mchardy, Ac, Renaux, A, Saidi, R, Gough, J, Freitas, Aa, Antczak, M, Fabris, F, Wass, Mn, Hou, J, Cheng, J, Wang, Z, Romero, Ae, Paccanaro, A, Yang, H, Goldberg, T, Zhao, C, Holm, L, Törönen, P, Medlar, Aj, Zosa, E, Borukhov, I, Novikov, I, Wilkins, A, Lichtarge, O, Chi, Ph, Tseng, Wc, Linial, M, Rose, Pw, Dessimoz, C, Vidulin, V, Dzeroski, S, Sillitoe, I, Das, S, Lees, Jg, Jones, Dt, Wan, C, Cozzetto, D, Fa, R, Torres, M, Warwick Vesztrocy, A, Rodriguez, Jm, Tress, Ml, Frasca, M, Notaro, M, Grossi, G, Petrini, A, Re, M, Valentini, G, Mesiti, M, Roche, Db, Reeb, J, Ritchie, Dw, Aridhi, S, Alborzi, Sz, Devignes, Md, Koo, Dce, Bonneau, R, Gligorijević, V, Barot, M, Fang, H, Toppo, S, Lavezzo, E

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31744546; info:eu-repo/semantics/altIdentifier/wos/WOS:000498615000001; journal:GENOME BIOLOGY; info:eu-repo/grantAgreement/EC/H2020/778247; http://hdl.handle.net/11577/3315952Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85075272104

الإتاحة: https://doi.org/10.1186/s13059-019-1835-8Test
http://hdl.handle.net/11577/3315952Test

المؤلفون: Savojardo C., Petrosino M., Babbi G., Bovo S., Corbi-Verge C., Casadio R., Fariselli P., Folkman L., Garg A., Karimi M., Katsonis P., Kim P. M., Lichtarge O., Martelli P. L., Pasquo A., Pal D., Shen Y., Strokach A. V., Turina P., Zhou Y., Andreoletti G., Brenner S. E., Chiaraluce R., Consalvi V., Capriotti E.

المساهمون: Savojardo C., Petrosino M., Babbi G., Bovo S., Corbi-Verge C., Casadio R., Fariselli P., Folkman L., Garg A., Karimi M., Katsonis P., Kim P.M., Lichtarge O., Martelli P.L., Pasquo A., Pal D., Shen Y., Strokach A.V., Turina P., Zhou Y., Andreoletti G., Brenner S.E., Chiaraluce R., Consalvi V., Capriotti E.

مصطلحات موضوعية: free energy change, machine learning, protein folding, protein stability, single amino acid variant

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31209948; info:eu-repo/semantics/altIdentifier/wos/WOS:000485994200019; volume:40; issue:9; firstpage:1392; lastpage:1399; numberofpages:8; journal:HUMAN MUTATION; http://hdl.handle.net/11585/700369Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070517550

الإتاحة: https://doi.org/10.1002/humu.23843Test
http://hdl.handle.net/11585/700369Test

المؤلفون: Zhou, N, Jiang, Y, Bergquist, TR, Lee, AJ, Kacsoh, BZ, Crocker, AW, Lewis, KA, Georghiou, G, Nguyen, HN, Hamid, MN, Davis, L, Dogan, T, Atalay, V, Rifaioglu, AS, Dalkıran, A, Cetin Atalay, R, Zhang, C, Hurto, RL, Freddolino, PL, Zhang, Y, Bhat, P, Supek, F, Fernández, JM, Gemovic, B, Perovic, VR, Davidović, RS, Sumonja, N, Veljkovic, N, Asgari, E, Mofrad, MRK, Profiti, G, Savojardo, C, Martelli, PL, Casadio, R, Boecker, F, Schoof, H, Kahanda, I, Thurlby, N, McHardy, AC, Renaux, A, Saidi, R, Gough, J, Freitas, AA, Antczak, M, Fabris, F, Wass, MN, Hou, J, Cheng, J, Wang, Z, Romero, AE, Paccanaro, A, Yang, H, Goldberg, T, Zhao, C, Holm, L, Törönen, P, Medlar, AJ, Zosa, E, Borukhov, I, Novikov, I, Wilkins, A, Lichtarge, O, Chi, P-H, Tseng, W-C, Linial, M, Rose, PW, Dessimoz, C, Vidulin, V, Dzeroski, S, Sillitoe, I, Das, S, Lees, JG, Jones, DT, Wan, C, Cozzetto, D, Fa, R, Torres, M, Warwick Vesztrocy, A, Rodriguez, JM, Tress, ML, Frasca, M, Notaro, M, Grossi, G, Petrini, A, Re, M, Valentini, G, Mesiti, M, Roche, DB, Reeb, J, Ritchie, DW, Aridhi, S, Alborzi, SZ, Devignes, M-D, Koo, DCE, Bonneau, R, Gligorijević, V, Barot, M, Fang, H, Toppo, S, Lavezzo, E, Falda, M, Berselli, M, Tosatto, SCE, Carraro, M, Piovesan, D, Ur Rehman, H, Mao, Q, Zhang, S, Vucetic, S, Black, GS, Jo, D, Suh, E, Dayton, JB, Larsen, DJ, Omdahl, AR, McGuffin, LJ, Brackenridge, DA, Babbitt, PC, Yunes, JM, Fontana, P, Zhang, F, Zhu, S, You, R, Zhang, Z, Dai, S, Yao, S, Tian, W, Cao, R, Chandler, C, Amezola, M, Johnson, D, Chang, J-M, Liao, W-H, Liu, Y-W, Pascarelli, S, Frank, Y, Hoehndorf, R, Kulmanov, M, Boudellioua, I, Politano, G, Di Carlo, S, Benso, A, Hakala, K, Ginter, F, Mehryary, F, Kaewphan, S, Björne, J, Moen, H, Tolvanen, MEE, Salakoski, T, Kihara, D, Jain, A, Šmuc, T, Altenhoff, A, Ben-Hur, A, Rost, B, Brenner, SE, Orengo, CA, Jeffery, CJ, Bosco, G, Hogan, DA, Martin, MJ, O'Donovan, C, Mooney, SD, Greene, CS, Radivojac, P, Friedberg, I

المصدر: Genome Biology , 20 (1) , Article 244. (2019)

مصطلحات موضوعية: Biofilm, Community challenge, Critical assessment, Long-term memory, Protein function prediction

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10086582/1/s13059-019-1835-8.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10086582Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10086582/1/s13059-019-1835-8.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10086582Test/

المؤلفون: Clark, WT, Kasak, L, Bakolitsa, C, Hu, Z, Andreoletti, G, Babbi, G, Bromberg, Y, Casadio, R, Dunbrack, R, Folkman, L, Ford, CT, Jones, D, Katsonis, P, Kundu, K, Lichtarge, O, Martelli, PL, Mooney, SD, Nodzak, C, Pal, LR, Ivojac, PRR, Savojardo, C, Shi, X, Zhou, Y, Uppal, A, Xu, Q, Yin, Y, Pejaver, V, Wang, M, Wei, L, Moult, J, Yu, GK, Brenner, SE, LeBowitz, JH

المصدر: Human Mutation , 40 (9) pp. 1519-1529. (2019)

مصطلحات موضوعية: CAGI, critical assessment, enzymatic activity, machine learning, Sanfilippo syndrome, variants of unknown significance, α‐N‐acetylglucosaminidase, NAGLU

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10082873/1/NAGLU_CAGI_032819.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10082873Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10082873/1/NAGLU_CAGI_032819.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10082873Test/

المؤلفون: Gennarino, VA, Palmer, EE, McDonell, LM, Wang, L, Adamski, CJ, Koire, A, See, L, Chen, CA, Schaaf, CP, Rosenfeld, JA, Panzer, JA, Moog, U, Hao, S, Bye, A, Kirk, EP, Stankiewicz, P, Breman, AM, McBride, A, Kandula, T, Dubbs, HA, Macintosh, R, Cardamone, M, Zhu, Y, Ying, K, Dias, KR, Cho, MT, Henderson, LB, Baskin, B, Morris, P, Tao, J, Cowley, MJ, Dinger, ME, Roscioli, T, Caluseriu, O, Suchowersky, O, Sachdev, RK, Lichtarge, O, Tang, J, Boycott, KM, Holder, JL, Zoghbi, HY, Palmer, Elizabeth

المصدر: urn:ISSN:0092-8674 ; urn:ISSN:1097-4172 ; Cell, 172, 5, 924-936.e11

مصطلحات موضوعية: Neurodegenerative, Rare Diseases, Genetics, Neurosciences, Brain Disorders, 2.1 Biological and endogenous factors, 2 Aetiology, Neurological, Adolescent, Adult, Age of Onset, Aged, 80 and over, Animals, Base Sequence, Child, Preschool, Developmental Disabilities, Evolution, Molecular, Female, Gene Deletion, Genetic Predisposition to Disease, HEK293 Cells, Haploinsufficiency, Humans, Infant, Male, Mice, Middle Aged

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/APP1114963Test; http://hdl.handle.net/1959.4/unsworks_61598Test; https://unsworks.unsw.edu.au/bitstreams/8fabdd62-bcbd-495b-8851-467a76adfe43/downloadTest; https://doi.org/10.1016/j.cell.2018.02.006Test

الإتاحة: https://doi.org/10.1016/j.cell.2018.02.006Test
http://hdl.handle.net/1959.4/unsworks_61598Test
https://unsworks.unsw.edu.au/bitstreams/8fabdd62-bcbd-495b-8851-467a76adfe43/downloadTest