المؤلفون: Kucuk, E., Sanden, B. van der, O'Gorman, L., Kwint, M.P., Derks, R.C., Wenger, A.M., Lambert, C., Chakraborty, S., Baybayan, P., Rowell, W.J., Brunner, H.G., Vissers, L.E.L.M., Hoischen, A., Gilissen, C.

المصدر: Genome Medicine, 15, 1

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/292751/292751.pdfTest; https://repository.ubn.ru.nl/handle/2066/292751Test

الإتاحة: https://doi.org/10.1186/s13073-023-01183-6Test
https://repository.ubn.ru.nl//bitstream/handle/2066/292751/292751.pdfTest
https://repository.ubn.ru.nl/handle/2066/292751Test

المؤلفون: Chaisson, M.J.P., Sanders, A.D., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E.J., Rodriguez, O.L., Guo, L., Collins, R.L., Fan, X., Wen, J., Handsaker, R.E., Fairley, S., Kronenberg, Z.N., Kong, X., Hormozdiari, F., Lee, D., Wenger, A.M., Hastie, A.R., Antaki, D., Anantharaman, T., Audano, P.A., Brand, H., Cantsilieris, S., Cao, H., Cerveira, E., Chen, C., Chen, X., Chin, C.S., Chong, Z., Chuang, N.T., Lambert, C.C., Church, D.M., Clarke, L., Farrell, A., Flores, J., Galeev, T., Gorkin, D.U., Gujral, M., Guryev, V., Heaton, W.H., Korlach, J., Kumar, S., Kwon, J.Y., Lam, E.T., Lee, J.E., Lee, J., Lee, W.P., Lee, S.P., Li, S., Marks, P., Viaud-Martinez, K., Meiers, S., Munson, K.M., Navarro, F.C.P., Nelson, B.J., Nodzak, C., Noor, A., Kyriazopoulou-Panagiotopoulou, S., Pang, A.W.C., Qiu, Y., Rosanio, G., Ryan, M., Stütz, A., Spierings, D.C.J., Ward, A., Welch, A.E., Xiao, M., Xu, W., Zhang, C., Zhu, Q., Zheng-Bradley, X., Lowy, E., Yakneen, S., McCarroll, S., Jun, G., Ding, L., Koh, C.L., Ren, B., Flicek, P., Chen, K., Gerstein, M.B., Kwok, P.Y., Lansdorp, P.M., Marth, G.T., Sebat, J., Shi, X., Bashir, A., Ye, K., Devine, S.E., Talkowski, M.E., Mills, R.E., Marschall, T., Korbel, J.O., Eichler, E.E., Lee, C.

مصطلحات موضوعية: Cancer Research

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/19627/1/19627oa.pdfTest; http://edoc.mdc-berlin.de/19627/2/19627suppl.zipTest; Multi-platform discovery of haplotype-resolved structural variation in human genomes. Chaisson, M.J.P. and Sanders, A.D. and Zhao, X. and Malhotra, A. and Porubsky, D. and Rausch, T. and Gardner, E.J. and Rodriguez, O.L. and Guo, L. and Collins, R.L. and Fan, X. and Wen, J. and Handsaker, R.E. and Fairley, S. and Kronenberg, Z.N. and Kong, X. and Hormozdiari, F. and Lee, D. and Wenger, A.M. and Hastie, A.R. and Antaki, D. and Anantharaman, T. and Audano, P.A. and Brand, H. and Cantsilieris, S. and Cao, H. and Cerveira, E. and Chen, C. and Chen, X. and Chin, C.S. and Chong, Z. and Chuang, N.T. and Lambert, C.C. and Church, D.M. and Clarke, L. and Farrell, A. and Flores, J. and Galeev, T. and Gorkin, D.U. and Gujral, M. and Guryev, V. and Heaton, W.H. and Korlach, J. and Kumar, S. and Kwon, J.Y. and Lam, E.T. and Lee, J.E. and Lee, J. and Lee, W.P. and Lee, S.P. and Li, S. and Marks, P. and Viaud-Martinez, K. and Meiers, S. and Munson, K.M. and Navarro, F.C.P. and Nelson, B.J. and Nodzak, C. and Noor, A. and Kyriazopoulou-Panagiotopoulou, S. and Pang, A.W.C. and Qiu, Y. and Rosanio, G. and Ryan, M. and Stütz, A. and Spierings, D.C.J. and Ward, A. and Welch, A.E. and Xiao, M. and Xu, W. and Zhang, C. and Zhu, Q. and Zheng-Bradley, X. and Lowy, E. and Yakneen, S. and McCarroll, S. and Jun, G. and Ding, L. and Koh, C.L. and Ren, B. and Flicek, P. and Chen, K. and Gerstein, M.B. and Kwok, P.Y. and Lansdorp, P.M. and Marth, G.T. and Sebat, J. and Shi, X. and Bashir, A. and Ye, K. and Devine, S.E. and Talkowski, M.E. and Mills, R.E. and Marschall, T. and Korbel, J.O. and Eichler, E.E. and Lee, C. Nature Communications 10 (1): 1784. 16 April 2019

الإتاحة: https://doi.org/10.1038/s41467-018-08148-zTest
http://edoc.mdc-berlin.de/19627Test/
https://edoc.mdc-berlin.de/19627Test/
http://edoc.mdc-berlin.de/19627/1/19627oa.pdfTest
http://edoc.mdc-berlin.de/19627/2/19627suppl.zipTest

المؤلفون: Pauper, M., Kucuk, E., Wenger, A.M., Chakraborty, S., Baybayan, P., Kwint, M., Sanden, B. van der, Nelen, M.R., Derks, R, Brunner, H.G., Hoischen, A., Vissers, L.E., Gilissen, C.F.H.A.

المصدر: European Journal of Human Genetics, 29, 4, pp. 637-648

مصطلحات موضوعية: Radboudumc 0: Other Research RIHS: Radboud Institute for Health Sciences, Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/235027/235027.pdfTest; https://repository.ubn.ru.nl/handle/2066/235027Test; http://dx.doi.org/10.1038/s41431-020-00770-0Test

الإتاحة: https://doi.org/10.1038/s41431-020-00770-0Test
https://repository.ubn.ru.nl//bitstream/handle/2066/235027/235027.pdfTest
https://repository.ubn.ru.nl/handle/2066/235027Test

المؤلفون: Ebert, P., Audano, P. A., Zhu, Q., Rodriguez-Martin, B., Porubsky, D., Bonder, M.J., Sulovari, A., Ebler, J., Zhou, W., Serra Mari, R., Yilmaz, F., Zhao, X., Hsieh, P.H., Lee, J., Kumar, S., Lin, J., Rausch, T., Chen, Y., Ren, J., Santamarina, M., Höps, W., Ashraf, H., Chuang, N.T., Yang, X., Munson, K.M., Lewis, A.P., Fairley, S., Tallon, L.J., Clarke, W.E., Basile, A.O., Byrska-Bishop, M., Corvelo, A., Evani, U.S., Lu, T.Y., Chaisson, M.J.P., Chen, J., Li, C., Brand, H., Wenger, A.M., Ghareghani, M., Harvey, W.T., Raeder, B., Hasenfeld, P., Regier, A.A., Abel, H.J., Hall, I.M., Flicek, P., Stegle, O., Gerstein, M.B, Tubio, J.M.C., Mu, Z., Li, Y.I., Shi, X., Hastie, A.R., Ye, K., Chong, Z., Sanders, A.D., Zody, M.C., Talkowski, M.E., Mills, R. E., Devine, S.E., Lee, C., Korbel, J.O., Marschall, T., Eichler, E.E.

مصطلحات موضوعية: Cancer Research

العلاقة: Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Ebert, P. and Audano, P. A. and Zhu, Q. and Rodriguez-Martin, B. and Porubsky, D. and Bonder, M.J. and Sulovari, A. and Ebler, J. and Zhou, W. and Serra Mari, R. and Yilmaz, F. and Zhao, X. and Hsieh, P.H. and Lee, J. and Kumar, S. and Lin, J. and Rausch, T. and Chen, Y. and Ren, J. and Santamarina, M. and Höps, W. and Ashraf, H. and Chuang, N.T. and Yang, X. and Munson, K.M. and Lewis, A.P. and Fairley, S. and Tallon, L.J. and Clarke, W.E. and Basile, A.O. and Byrska-Bishop, M. and Corvelo, A. and Evani, U.S. and Lu, T.Y. and Chaisson, M.J.P. and Chen, J. and Li, C. and Brand, H. and Wenger, A.M. and Ghareghani, M. and Harvey, W.T. and Raeder, B. and Hasenfeld, P. and Regier, A.A. and Abel, H.J. and Hall, I.M. and Flicek, P. and Stegle, O. and Gerstein, M.B and Tubio, J.M.C. and Mu, Z. and Li, Y.I. and Shi, X. and Hastie, A.R. and Ye, K. and Chong, Z. and Sanders, A.D. and Zody, M.C. and Talkowski, M.E. and Mills, R. E. and Devine, S.E. and Lee, C. and Korbel, J.O. and Marschall, T. and Eichler, E.E. Science 372 (6537): eabf7117. 25 February 2021

الإتاحة: https://doi.org/10.1126/science.abf7117Test
http://edoc.mdc-berlin.de/20052Test/
https://edoc.mdc-berlin.de/20052Test/

المؤلفون: Vollger, M.R., Logsdon, G.A., Audano, P.A., Sulovari, A., Porubsky, D., Peluso, P., Wenger, A.M., Concepcion, G.T., Kronenberg, Z.N., Munson, K.M., Baker, C., Sanders, A.D., Spierings, D.C.J., Lansdorp, P.M., Surti, U., Hunkapiller, M.W., Eichler, E.E.

مصطلحات موضوعية: Cancer Research

العلاقة: Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads. Vollger, M.R. and Logsdon, G.A. and Audano, P.A. and Sulovari, A. and Porubsky, D. and Peluso, P. and Wenger, A.M. and Concepcion, G.T. and Kronenberg, Z.N. and Munson, K.M. and Baker, C. and Sanders, A.D. and Spierings, D.C.J. and Lansdorp, P.M. and Surti, U. and Hunkapiller, M.W. and Eichler, E.E. Annals of Human Genetics 84 (2): 125-140. March 2020

الإتاحة: https://doi.org/10.1111/ahg.12364Test
http://edoc.mdc-berlin.de/19643Test/
https://edoc.mdc-berlin.de/19643Test/

المؤلفون: Balasubramanian, M., Lord, H., Levesque, S., Guturu, H., Thuriot, F., Sillon, G., Wenger, A.M., Sureka, D.L., Lester, T., Johnson, D.S., Bowen, J., Calhoun, A.R., Viskochil, D.H., DDD Study, Bejerano, G., Bernstein, J.A., Chitayat, D.

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::ffd7caef83f4bca9f1b122c29c676b83Test