Zobrazeno 21 - 30
of 128
pro vyhledávání: '"Billingsley, Kimberley"'
Autor:
Billingsley, Kimberley J, Ding, Jinhui, Hernandez, Dena, Torkamani, Ali, Ryten, Mina, Hardy, John, Consortium, UK Brain Expression, Chia, Ruth, Scholz, Sonja W, Traynor, Bryan J, Dalgard, Clifton L, Ehrlich, Debra J, Jerez, Pilar Alvarez, Tanaka, Toshiko, Ferrucci, Luigi, Beach, Thomas G, Serrano, Geidy E, Quinn, John P, Bubb, Vivien J, Collins, Ryan L, Zhao, Xuefang, Walker, Mark, Pierce-Hoffman, Emma, Illarionova, Anastasia, Brand, Harrison, Talkowski, Michael E, Casey, Bradford, Cookson, Mark R, Markham, Androo, Nalls, Mike A, Mahmoud, Medhat, Sedlazeck, Fritz J, Blauwendraat, Cornelis, Gibbs, J Raphael, Levine, Kristin, Singleton, Andrew B, Grenn, Francis P, Makarious, Mary B, Moore, Anni, Vitale, Daniel, Reed, Xylena
Publikováno v:
Annals of neurology 93(5), 1012-1022 (2023). doi:10.1002/ana.26608
Identification of genetic risk factors for Parkinson disease (PD) has to date been primarily limited to the study of single nucleotide variants, which only represent a small fraction of the genetic variation in the human genome. Consequently, causal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbd18e8c4060c83d995cbd84b898df75
Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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K zobrazení výsledku je třeba se přihlásit.
Autor:
Bressan, Elisangela, Reed, Xylena, Bansal, Vikas, Hutchins, Elizabeth, Cobb, Melanie M, Webb, Michelle G, Alsop, Eric, Grenn, Francis P, Illarionova, Anastasia, Savytska, Natalia, Violich, Ivo, Broeer, Stefanie, Fernandes, Noémia, Sivakumar, Ramiyapriya, Beilina, Alexandra, Billingsley, Kimberley J, Berghausen, Joos, Pantazis, Caroline B, Pitz, Vanessa, Patel, Dhairya, Daida, Kensuke, Meechoovet, Bessie, Reiman, Rebecca, Courtright-Lim, Amanda, Logemann, Amber, Antone, Jerry, Barch, Mariya, Kitchen, Robert, Li, Yan, Dalgard, Clifton L, American Genome Center, Rizzu, Patrizia, Hernandez, Dena G, Hjelm, Brooke E, Nalls, Mike, Gibbs, J Raphael, Finkbeiner, Steven, Cookson, Mark R, Van Keuren-Jensen, Kendall, Craig, David W, Singleton, Andrew B, Heutink, Peter, Blauwendraat, Cornelis
Publikováno v:
Cell genomics, vol 3, iss 3
Cell genomics 3(3), 100261 (2023). doi:10.1016/j.xgen.2023.100261
Cell genomics 3(3), 100261 (2023). doi:10.1016/j.xgen.2023.100261
The Foundational Data Initiative for Parkinson Disease (FOUNDIN-PD) is an international collaboration producing fundamental resources for Parkinson disease (PD). FOUNDIN-PD generated a multi-layered molecular dataset in a cohort of induced pluripoten
Autor:
Alvarez Jerez, Pilar, Alcantud, Jose Luis, de los Reyes-Ramírez, Lucia, Moore, Anni, Ruz, Clara, Vives Montero, Francisco, Rodriguez-Losada, Noela, Saini, Prabhjyot, Gan-Or, Ziv, Alvarado, Chelsea X., Makarious, Mary B., Billingsley, Kimberley J., Blauwendraat, Cornelis, Noyce, Alastair J., Singleton, Andrew B., Duran, Raquel, Bandres-Ciga, Sara
Publikováno v:
NPJ Parkinson's Disease; 4/6/2023, Vol. 9 Issue 1, p1-9, 9p
Autor:
Dolzhenko, Egor, Weisburd, Ben, Ibañez, Kristina, Rajan-Babu, Indhu-Shree, Anyansi, Christine, Bennett, Mark F., Billingsley, Kimberley, Carroll, Ashley, Clamons, Samuel, Danzi, Matt C., Deshpande, Viraj, Ding, Jinhui, Fazal, Sarah, Halman, Andreas, Jadhav, Bharati, Qiu, Yunjiang, Richmond, Phillip A., Saunders, Christopher T., Scheffler, Konrad, van Vugt, Joke J. F. A., Zwamborn, Ramona R. A. J., Chong, Samuel S., Friedman, Jan M., Tucci, Arianna, Rehm, Heidi L., Eberle, Michael A.
Additional file 1: Supplementary methods. Description of the concordance study dataset; Description of the wrapper script; Evaluation of manual review performance; Comparison with haplotype-resolved assemblies, Comparison with other visualization sof
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d699b7561d1ef0b10284e5d8b76c95d
Autor:
Dolzhenko, Egor, Weisburd, Ben, Ibañez, Kristina, Rajan-Babu, Indhu-Shree, Anyansi, Christine, Bennett, Mark F., Billingsley, Kimberley, Carroll, Ashley, Clamons, Samuel, Danzi, Matt C., Deshpande, Viraj, Ding, Jinhui, Fazal, Sarah, Halman, Andreas, Jadhav, Bharati, Qiu, Yunjiang, Richmond, Phillip A., Saunders, Christopher T., Scheffler, Konrad, van Vugt, Joke J. F. A., Zwamborn, Ramona R. A. J., Chong, Samuel S., Friedman, Jan M., Tucci, Arianna, Rehm, Heidi L., Eberle, Michael A.
Additional file 5: Figure S2. Read pileups in a region surrounding DMPK repeat expansion generated by (A) JBrowse, (B) IGV, and (C) REViewer.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c87faa8adea304ca103e559fa6645952
Autor:
Dolzhenko, Egor, Weisburd, Ben, Ibañez, Kristina, Rajan-Babu, Indhu-Shree, Anyansi, Christine, Bennett, Mark F., Billingsley, Kimberley, Carroll, Ashley, Clamons, Samuel, Danzi, Matt C., Deshpande, Viraj, Ding, Jinhui, Fazal, Sarah, Halman, Andreas, Jadhav, Bharati, Qiu, Yunjiang, Richmond, Phillip A., Saunders, Christopher T., Scheffler, Konrad, van Vugt, Joke J. F. A., Zwamborn, Ramona R. A. J., Chong, Samuel S., Friedman, Jan M., Tucci, Arianna, Rehm, Heidi L., Eberle, Michael A.
Additional file 4: Figure S1. REViewer pileup plots for some NA12878 STRs: (A) ATXN10, (B) RFC1, (C) CNPB.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1cfc1d0c9e1ec85196ac47f1219396b
Autor:
Walker, Kimberly, Kalra, Divya, Lowdon, Rebecca, Chen, Guangyi, Sedlazeck, Fritz J, Busby, Ben, Molik, David, Soto, Daniela C., Dabbaghie, Fawaz, Khleifat, Ahmad Al, Mahmoud, Medhat, Paulin, Luis F., Raza, Muhammad Sohail, Pfeifer, Susanne P., Agustinho, Daniel Paiva, Aliyev, Elbay, Avdeyev, Pavel, Barrozo, Enrico R., Behera, Sairam, Billingsley, Kimberley, Chong, Li Chuin, Choubey, Deepak, De Coster, Wouter, Fu, Yilei, Gener, Alejandro R., Hefferon, Timothy, Henke, David Morgan, Höps, Wolfram, Illarionova, Anastasia, Jochum, Michael D., Jose, Maria, Kesharwani, Rupesh K., Kolora, Sree Rohit Raj, Kubica, Jedrzej, Lakra, Priya, Lattimer, Damaris, Liew, Chia-Sin, Lo, Bai-Wei, Lo, Chunhsuan, Lötter, Anneri, Majidian, Sina, Mendem, Suresh Kumar, Mondal, Rajarshi, Ohmiya, Hiroko, Parvin, Nasrin, Peralta, Carolina, Poon, Chi-Lam, Prabhakaran, Ramanandan, Saitou, Marie, Sammi, Aditi, Sanio, Philippe, Sapoval, Nicolae, Syed, Najeeb, Treangen, Todd, Wang, Gaojianyong, Xu, Tiancheng, Yang, Jianzhi, Zhang, Shangzhe, Zhou, Weiyu
Externí odkaz:
https://hdl.handle.net/11250/3059539
Autor:
Bustos, Bernabe I, Billingsley, Kimberley, Blauwendraat, Cornelis, Gibbs, J Raphael, Gan-Or, Ziv, Krainc, Dimitri, Singleton, Andrew B, Lubbe, Steven J, (IPDGC), International Parkinson's Disease Genomics Consortium, International Parkinson’s Disease Genomics Consortium (IPDGC)
Publikováno v:
Brain: A Journal of Neurology; Jan2023, Vol. 146 Issue 1, p65-74, 10p