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Page 1
Curated variation benchmarks for challenging medically relevant autosomal genes.
Wagner J, Olson ND, Harris L, McDaniel J, Cheng H, Fungtammasan A, Hwang YC, Gupta R, Wenger AM, Rowell WJ, Khan ZM, Farek J, Zhu Y, Pisupati A, Mahmoud M, Xiao C, Yoo B, Sahraeian SME, Miller DE, Jáspez D, Lorenzo-Salazar JM, Muñoz-Barrera A, Rubio-Rodríguez LA, Flores C, Narzisi G, Evani US, Clarke WE, Lee J, Mason CE, Lincoln SE, Miga KH, Ebbert MTW, Shumate A, Li H, Chin CS, Zook JM, Sedlazeck FJ. Wagner J, et al. Nat Biotechnol. 2022 May;40(5):672-680. doi: 10.1038/s41587-021-01158-1. Epub 2022 Feb 7. Nat Biotechnol. 2022. PMID: 35132260 Free PMC article.
Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation.
Mendoza-Alvarez A, Muñoz-Barrera A, Rubio-Rodríguez LA, Marcelino-Rodriguez I, Corrales A, Iñigo-Campos A, Callero A, Perez-Rodriguez E, Garcia-Robaina JC, González-Montelongo R, Lorenzo-Salazar JM, Flores C. Mendoza-Alvarez A, et al. J Med Internet Res. 2020 Oct 9;22(10):e19040. doi: 10.2196/19040. J Med Internet Res. 2020. PMID: 33034563 Free PMC article.
Evaluation of Whole-Exome Enrichment Solutions: Lessons from the High-End of the Short-Read Sequencing Scale.
Díaz-de Usera A, Lorenzo-Salazar JM, Rubio-Rodríguez LA, Muñoz-Barrera A, Guillen-Guio B, Marcelino-Rodríguez I, García-Olivares V, Mendoza-Alvarez A, Corrales A, Íñigo-Campos A, González-Montelongo R, Flores C. Díaz-de Usera A, et al. J Clin Med. 2020 Nov 13;9(11):3656. doi: 10.3390/jcm9113656. J Clin Med. 2020. PMID: 33202991 Free PMC article.
Transactive Response DNA-Binding Protein (TARDBP/TDP-43) Regulates Cell Permissivity to HIV-1 Infection by Acting on HDAC6.
Cabrera-Rodríguez R, Pérez-Yanes S, Montelongo R, Lorenzo-Salazar JM, Estévez-Herrera J, García-Luis J, Íñigo-Campos A, Rubio-Rodríguez LA, Muñoz-Barrera A, Trujillo-González R, Dorta-Guerra R, Casado C, Pernas M, Blanco J, Flores C, Valenzuela-Fernández A. Cabrera-Rodríguez R, et al. Int J Mol Sci. 2022 May 31;23(11):6180. doi: 10.3390/ijms23116180. Int J Mol Sci. 2022. PMID: 35682862 Free PMC article.
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.
Olson ND, Wagner J, McDaniel J, Stephens SH, Westreich ST, Prasanna AG, Johanson E, Boja E, Maier EJ, Serang O, Jáspez D, Lorenzo-Salazar JM, Muñoz-Barrera A, Rubio-Rodríguez LA, Flores C, Kyriakidis K, Malousi A, Shafin K, Pesout T, Jain M, Paten B, Chang PC, Kolesnikov A, Nattestad M, Baid G, Goel S, Yang H, Carroll A, Eveleigh R, Bourgey M, Bourque G, Li G, Ma C, Tang L, Du Y, Zhang S, Morata J, Tonda R, Parra G, Trotta JR, Brueffer C, Demirkaya-Budak S, Kabakci-Zorlu D, Turgut D, Kalay Ö, Budak G, Narcı K, Arslan E, Brown R, Johnson IJ, Dolgoborodov A, Semenyuk V, Jain A, Tetikol HS, Jain V, Ruehle M, Lajoie B, Roddey C, Catreux S, Mehio R, Ahsan MU, Liu Q, Wang K, Sahraeian SME, Fang LT, Mohiyuddin M, Hung C, Jain C, Feng H, Li Z, Chen L, Sedlazeck FJ, Zook JM. Olson ND, et al. Cell Genom. 2022 May 11;2(5):100129. doi: 10.1016/j.xgen.2022.100129. Epub 2022 Apr 27. Cell Genom. 2022. PMID: 35720974 Free PMC article.
Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizers.
Tosco-Herrera E, Muñoz-Barrera A, Jáspez D, Rubio-Rodríguez LA, Mendoza-Alvarez A, Rodriguez-Perez H, Jou J, Iñigo-Campos A, Corrales A, Ciuffreda L, Martinez-Bugallo F, Prieto-Morin C, García-Olivares V, González-Montelongo R, Lorenzo-Salazar JM, Marcelino-Rodriguez I, Flores C. Tosco-Herrera E, et al. Hum Mutat. 2022 Dec;43(12):2010-2020. doi: 10.1002/humu.24459. Epub 2022 Sep 12. Hum Mutat. 2022. PMID: 36054330
Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders.
Díaz-de Usera A, Rubio-Rodríguez LA, Muñoz-Barrera A, Lorenzo-Salazar JM, Guillen-Guio B, Jáspez D, Corrales A, Íñigo-Campos A, García-Olivares V, Rodríguez Pérez MDC, Marcelino-Rodríguez I, Cabrera de León A, González-Montelongo R, Flores C. Díaz-de Usera A, et al. Among authors: rubio rodriguez la. Sci Rep. 2022 Sep 27;12(1):16132. doi: 10.1038/s41598-022-20442-x. Sci Rep. 2022. PMID: 36168029 Free PMC article.
A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain).
Mendoza-Alvarez A, Tosco-Herrera E, Muñoz-Barrera A, Rubio-Rodríguez LA, Alonso-Gonzalez A, Corrales A, Iñigo-Campos A, Almeida-Quintana L, Martin-Fernandez E, Martinez-Beltran D, Perez-Rodriguez E, Callero A, Garcia-Robaina JC, González-Montelongo R, Marcelino-Rodriguez I, Lorenzo-Salazar JM, Flores C. Mendoza-Alvarez A, et al. Among authors: rubio rodriguez la. Front Immunol. 2022 Sep 20;13:997148. doi: 10.3389/fimmu.2022.997148. eCollection 2022. Front Immunol. 2022. PMID: 36203598 Free PMC article.
A genome-wide association study of survival in patients with sepsis.
Hernandez-Beeftink T, Guillen-Guio B, Lorenzo-Salazar JM, Corrales A, Suarez-Pajes E, Feng R, Rubio-Rodríguez LA, Paynton ML, Cruz R, García-Laorden MI, Prieto-González M, Rodríguez-Pérez A, Carriedo D, Blanco J, Ambrós A, González-Higueras E, Espinosa E, Muriel A, Tamayo E, Martin MM, Lorente L, Domínguez D, de Lorenzo AG, Giannini HM, Reilly JP, Jones TK, Añón JM, Soro M, Carracedo Á, Wain LV, Meyer NJ, Villar J, Flores C; Genetics of Sepsis (GEN-SEP) Network. Hernandez-Beeftink T, et al. Among authors: rubio rodriguez la. Crit Care. 2022 Nov 5;26(1):341. doi: 10.1186/s13054-022-04208-5. Crit Care. 2022. PMID: 36335405 Free PMC article.
18 results