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Did you mean rubio rodriguez a (9 results)?
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.
Lee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P, Perret M, Liu Z, Jordan I, Elmas Bozdemir S, Bayhan GI, Beaufils C, Bizien L, Bisiaux A, Lei W, Hasan M, Chen J, Gaughan C, Asthana A, Libri V, Luna JM, Jaffré F, Hoffmann HH, Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S, Flores C, Zhang Y, Arias AA, Bailey R, Schlüter A, Milisavljevic B, Bigio B, Le Voyer T, Materna M, Gervais A, Moncada-Velez M, Pala F, Lazarov T, Levy R, Neehus AL, Rosain J, Peel J, Chan YH, Morin MP, Pino-Ramirez RM, Belkaya S, Lorenzo L, Anton J, Delafontaine S, Toubiana J, Bajolle F, Fumadó V, DeDiego ML, Fidouh N, Rozenberg F, Pérez-Tur J, Chen S, Evans T, Geissmann F, Lebon P, Weiss SR, Bonnet D, Duval X; CoV-Contact Cohort§; COVID Human Genetic Effort¶; Pan-Hammarström Q, Planas AM, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, Dalgard CL, Bustamante J, Puel A, Boisson-Dupuis S, Boisson B, Maniatis T, Zhang Q, Bastard P, Notarangelo L, Béziat V, Perez de Diego R, Rodriguez-Gallego C, Su HC, Lifton RP, Jouanguy E, Cobat A, Alsina L, Keles S, Haddad E, Abel L, Belot A, Quintana-Murci L, Rice CM, Silverman RH, Zhang SY, Casanova JL. Lee D, et al. Science. 2023 Feb 10;379(6632):eabo3627. doi: 10.1126/science.abo3627. Epub 2023 Feb 10. Science. 2023. PMID: 36538032 Free PMC article.
PCSK6 and Survival in Idiopathic Pulmonary Fibrosis.
Oldham JM, Allen RJ, Lorenzo-Salazar JM, Molyneaux PL, Ma SF, Joseph C, Kim JS, Guillen-Guio B, Hernández-Beeftink T, Kropski JA, Huang Y, Lee CT, Adegunsoye A, Pugashetti JV, Linderholm AL, Vo V, Strek ME, Jou J, Muñoz-Barrera A, Rubio-Rodriguez LA, Hubbard R, Hirani N, Whyte MKB, Hart S, Nicholson AG, Lancaster L, Parfrey H, Rassl D, Wallace W, Valenzi E, Zhang Y, Mychaleckyj J, Stockwell A, Kaminski N, Wolters PJ, Molina-Molina M, Banovich NE, Fahy WA, Martinez FJ, Hall IP, Tobin MD, Maher TM, Blackwell TS, Yaspan BL, Jenkins RG, Flores C, Wain LV, Noth I. Oldham JM, et al. Among authors: rubio rodriguez la. Am J Respir Crit Care Med. 2023 Jun 1;207(11):1515-1524. doi: 10.1164/rccm.202205-0845OC. Am J Respir Crit Care Med. 2023. PMID: 36780644 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.
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. Among authors: rubio rodriguez la. 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.
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.
Digging into the admixture strata of current-day Canary Islanders based on mitogenomes.
García-Olivares V, Rubio-Rodríguez LA, Muñoz-Barrera A, Díaz-de Usera A, Jáspez D, Iñigo-Campos A, Rodríguez Pérez MDC, Cabrera de León A, Lorenzo-Salazar JM, González-Montelongo R, Cabrera VM, Flores C. García-Olivares V, et al. Among authors: rubio rodriguez la. iScience. 2022 Dec 29;26(1):105907. doi: 10.1016/j.isci.2022.105907. eCollection 2023 Jan 20. iScience. 2022. PMID: 36647378 Free PMC article.
Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.
Lorente-Arencibia P, García-Villarreal L, González-Montelongo R, Rubio-Rodríguez LA, Flores C, Garay-Sánchez P, delaCruz T, Santana-Verano M, Rodríguez-Esparragón F, Benitez-Reyes JN, Fernández-Fuertes F, Tugores A. Lorente-Arencibia P, et al. Among authors: rubio rodriguez la. J Pediatr Gastroenterol Nutr. 2022 Feb 1;74(2):192-199. doi: 10.1097/MPG.0000000000003322. J Pediatr Gastroenterol Nutr. 2022. PMID: 34620762
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.
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. Among authors: rubio rodriguez la. Hum Mutat. 2022 Dec;43(12):2010-2020. doi: 10.1002/humu.24459. Epub 2022 Sep 12. Hum Mutat. 2022. PMID: 36054330
18 results