Scientific Publications
Publications by our research team indexed in PubMed.
Signal-to-Care Gap in Multicancer Early Detection.
Bermúdez-Guzmán L.
JAMA Intern Med. 2026 Jul 20. doi: 10.1001/jamainternmed.2026.2744. Online ahead of print.
PMID: 42475089
Mutational survivorship bias: The case of PNKP.
Bermúdez-Guzmán L, Jimenez-Huezo G, Arguedas A, Leal A.
PLoS One. 2020 Dec 17;15(12):e0237682. doi: 10.1371/journal.pone.0237682. eCollection 2020.
PMID: 33332469 · Free PMC article.
The Time for Chronotherapy in Radiation Oncology.
Bermúdez-Guzmán L, Blanco-Saborío A, Ramírez-Zamora J, Lovo E.
Front Oncol. 2021 May 11;11:687672. doi: 10.3389/fonc.2021.687672. eCollection 2021.
PMID: 34046365 · Free PMC article.
DNA repair deficiency in neuropathogenesis: when all roads lead to mitochondria.
Bermúdez-Guzmán L, Leal A.
Transl Neurodegener. 2019 May 9;8:14. doi: 10.1186/s40035-019-0156-x. eCollection 2019.
PMID: 31110700 · Free PMC article. Review.
The lack of Tex44 causes severe subfertility with flagellar abnormalities in male mice.
Dupuis S, Girault MS, Le Beulze M, Ialy-Radio C, Bermúdez-Guzmán L, Ziyyat A, Barbaux S.
Cell Mol Biol Lett. 2024 May 15;29(1):74. doi: 10.1186/s11658-024-00587-5.
PMID: 38750428 · Free PMC article.
CyberKnife Stereotactic Radiosurgery for Uveal Melanoma: First Case Series in Central America.
Benavides R, Mejías R, Blanco A, Bermudez-Guzman L.
Ocul Oncol Pathol. 2024 Apr;10(1):25-31. doi: 10.1159/000534207. Epub 2023 Sep 30.
PMID: 38645736 · Free PMC article.
Pan-cancer analysis of non-oncogene addiction to DNA repair.
Bermúdez-Guzmán L.
Sci Rep. 2021 Dec 1;11(1):23264. doi: 10.1038/s41598-021-02773-3.
PMID: 34853396 · Free PMC article.
Linking genotype to trophoblast phenotype in preeclampsia and HELLP syndrome associated with STOX1 genetic variants.
Costa L, Bermudez-Guzman L, Benouda I, Laissue P, Morel A, Jiménez KM, Fournier T, Stouvenel L, Méhats C, Miralles F, Vaiman D.
iScience. 2024 Feb 16;27(3):109260. doi: 10.1016/j.isci.2024.109260. eCollection 2024 Mar 15.
PMID: 38439971 · Free PMC article.
Individualised connectomic-guided radiosurgical thalamotomy for chronic pain.
Lovo E, Venetucci Gouveia F, Germann J, Omar Contreras W, Lopes Alho EJ, Cruz C, Bermúdez-Guzmán L.
Br J Neurosurg. 2026 Jun;40(3):536-546. doi: 10.1080/02688697.2025.2557210. Epub 2025 Sep 8.
PMID: 40921614 · Free article.
Triple-target radiosurgery for intractable cancer pain of mixed origin: Two-centre experience in Central America.
Del Cid P, Aquino L, Moreira A, Caceros V, Tobar C, Blanco A, Carvajal G, Bermudez-Guzman L, Lovo EE.
Br J Pain. 2025 Jun 18;19(6):396-403. doi: 10.1177/20494637251350331. eCollection 2025 Dec.
PMID: 40547896 · Free PMC article.
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Neuser S, Krey I, Schwan A, Abou Jamra R, Bartolomaeus T, Döring J, Syrbe S, Plassmann M, Rohde S, Roth C, Rehder H, Radtke M, Le Duc D, Schubert S, Bermúdez-Guzmán L, Leal A, Schoner K, Popp B.
Eur J Hum Genet. 2022 Jan;30(1):101-110. doi: 10.1038/s41431-021-00982-y. Epub 2021 Oct 25.
PMID: 34697416 · Free PMC article.
On the Distinction Between Prognostic and Predictive Inference in Multicancer Early Detection.
Bermúdez-Guzmán L.
JCO Precis Oncol. 2026 Jun;10(6):e2600388. doi: 10.1200/PO-26-00388. Epub 2026 Jun 17.
PMID: 42308465 · No abstract available.
Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.
Brenes O, Barbieri R, Vásquez M, Vindas-Smith R, Roig J, Romero A, Valle GD, Bermúdez-Guzmán L, Bertelli S, Pusch M, Morales F.
Cells. 2021 Feb 11;10(2):374. doi: 10.3390/cells10020374.
PMID: 33670307 · Free PMC article.
Insights into the pathogenicity of missense variants in the forkhead domain of FOX proteins underlying Mendelian disorders.
Bermúdez-Guzmán L, Veitia RA.
Hum Genet. 2021 Jul;140(7):999-1010. doi: 10.1007/s00439-021-02267-2. Epub 2021 Feb 27.
PMID: 33638707
CyberKnife Stereotactic Radiosurgery for an Unusual Case of Large Brain Metastases From Ewing's Sarcoma in a Pediatric Patient.
Mejías R, Bermúdez-Guzmán L, Blanco A.
Adv Radiat Oncol. 2022 Apr 25;7(4):100979. doi: 10.1016/j.adro.2022.100979. eCollection 2022 Jul-Aug.
PMID: 35814851 · Free PMC article. No abstract available.