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A decade of RAD51C and RAD51D germline variants in cancer.
Boni J, Idani A, Roca C, Feliubadaló L, Tomiak E, Weber E, Foulkes WD, Orthwein A, El Haffaf Z, Lazaro C, Rivera B. Boni J, et al. Among authors: roca c. Hum Mutat. 2022 Mar;43(3):285-298. doi: 10.1002/humu.24319. Epub 2021 Dec 30. Hum Mutat. 2022. PMID: 34923718 Review.
DGCR8 and the six hit, three-step model of schwannomatosis.
Nogué C, Chong AS, Grau E, Han H, Dorca E, Roca C, Mosquera JL, Lázaro C, Foulkes WD, Brunet J, Rivera B. Nogué C, et al. Among authors: roca c. Acta Neuropathol. 2022 Jan;143(1):115-117. doi: 10.1007/s00401-021-02387-z. Epub 2021 Nov 25. Acta Neuropathol. 2022. PMID: 34821987 No abstract available.
SMARCA4-associated schwannomatosis.
Chan-Pak-Choon F, Roca C, Chong AS, Nogué C, Dahlum S, Austin R, Mar Fan H, van Spaendonck-Zwarts KY, Lambie NK, Robertson T, Siebert R, Rivera B, Foulkes WD. Chan-Pak-Choon F, et al. Among authors: roca c. Acta Neuropathol. 2023 Apr;145(4):505-507. doi: 10.1007/s00401-023-02546-4. Epub 2023 Feb 14. Acta Neuropathol. 2023. PMID: 36786840 No abstract available.
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E, Feliubadaló L, Pineda M, Tornero E, Gonzalez M, Moreno-Cabrera JM, Roca C, Bales Rubio J, Arnaldo L, Capellá G, Mosquera JL, Lázaro C. Munté E, et al. Among authors: roca c. Bioinformatics. 2023 Mar 1;39(3):btad128. doi: 10.1093/bioinformatics/btad128. Bioinformatics. 2023. PMID: 36916756 Free PMC article.
Relationship between sociodemographic, clinical, and laboratory characteristics and severity of COVID-19 in pediatric patients.
Roca C, Asturizaga A, Villca N, Cabrera R, Copana-Olmos R, Aguilera-Avendano V, Estrada-Villarroel C, Forest-Yepez MA, Torrez-Santos M, Magne-Calle AF, Foronda-Rios MO, Pena-Helguero LM, Montalvo M, Torrez D, Toco M, Cespedes M, Davalos I, Bowman NM; COVID19 Research Group in Bolivia. Roca C, et al. PLoS One. 2024 May 7;19(5):e0283037. doi: 10.1371/journal.pone.0283037. eCollection 2024. PLoS One. 2024. PMID: 38713667 Free PMC article.
Sexually transmitted infections, the epidemic that persists after the COVID-19 pandemic: an analysis of the primary care electronic health records covering about 5 million people in Catalonia.
Guiriguet C, Alberny M, Mora N, Rebagliato O, Roca C, Fina F, Fàbregas M, Benítez M, de la Poza M, Medina M, Flayeh S, Pedrazas D, Sabatés M, Coma E. Guiriguet C, et al. Among authors: roca c. BMC Prim Care. 2024 May 4;25(1):150. doi: 10.1186/s12875-024-02395-4. BMC Prim Care. 2024. PMID: 38704552 Free PMC article.
Mucus polymer concentration and in vivo adaptation converge to define the antibiotic response of Pseudomonas aeruginosa during chronic lung infection.
Greenwald MA, Meinig SL, Plott LM, Roca C, Higgs MG, Vitko NP, Markovetz MR, Rouillard KR, Carpenter J, Kesimer M, Hill DB, Schisler JC, Wolfgang MC. Greenwald MA, et al. Among authors: roca c. mBio. 2024 Apr 23:e0345123. doi: 10.1128/mbio.03451-23. Online ahead of print. mBio. 2024. PMID: 38651896 Free article.
Mitochondrial Haplogroups and Weight Gain After Initiating ART in Patients with HIV.
Berenguer J, Jarrín I, Bellón JM, Díez C, Jiménez-Sousa MA, López JC, Pinto-Martínez A, Moreno S, Montes ML, Iribarren JA, Orviz E, Portilla J, Villarroya F, Domingo P, Resino S; CoRIS cohort. Berenguer J, et al. J Infect Dis. 2024 Apr 1:jiae168. doi: 10.1093/infdis/jiae168. Online ahead of print. J Infect Dis. 2024. PMID: 38557859
241 results