Trickey A., Zhang L., Gill M.J., Bonnet F., Burkholder G., Castagna A., Cavassini M., Cichon P., Crane H., Domingo P., Grabar S., Guest J., Obel N., Psichogiou M., Rava M., Reiss P., Rentsch C.T., Riera M., Schuettfort G., Silverberg M.J., Smith C., Stecher M., Sterling T.R., Ingle S.M., Sabin C.A., Sterne J.A.C.. Associations of modern initial antiretroviral drug regimens with all-cause mortality in adults with HIV in Europe and North America: a cohort study. Lancet HIV. 2022; 9(6)DOI:10.1016/S2352-3018(22)00046-7. PMID:35659335. IF:(Q/D).

Riancho J.A., Peris P., González-Macías J., Pérez-Castrillón J.L., Cannata Andía J., Cano A., Carbonell Abella C., Casado Burgos E., Ciria Recasens M., Corral-Gudino L., del Pino Montes J., Del Río Barquero L.M., Díaz Curiel M., Díez Pérez A., García Vadillo A., Gómez Alonso C., Gómez de Tejada Romero M.J., Guañabens N., Hawkins Carranza F., Jódar Gimeno E., Malouf Sierra J., Martínez Díaz-Guerra G., Monegal Brancos A., Muñoz Torres M., Naves Díaz M., Nogues X., Nolla J.M., Olmos Martínez J.M., Peris Bernal P., Quesada Gómez J.M., Rodríguez García M., Sosa Henríquez M., Torrijos Eslava A., Valero Díaz de Lamadrid C.. Executive summary clinical practice guideline of postmenopausal, glucocorticoid-induced, and male osteoporosis (2022 update). Revista De Osteoporosis Y Metabolismo Mineral. 2022; 14(1)DOI:10.4321/S1889-836X2022000100002. PMID:. IF:(Q/D).

Tejero, E, de Haro, MJR, Pujol, R, Bogliolo, M, Rodríguez-Santiago, B, Surrallés, J. Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia. Orphanet Journal of Rare Diseases. 2025; 20(1)DOI:10.1186/s13023-025-03928-5. PMID:41088272. IF:3.500(Q2/4D).

Iriondo, J, Zubicaray, J, Rio, P, Catala, A, Solsona, M, Sanz, A, Gomez, A, Sebastian, E, de la Cruz, A, Galan, A, Navarro, S, Larcher, L, de Andoin, NG, Uriz, JJ, Vagace, JM, de Pablo, JG, Pujol, MR, Nicoletti, E, Surralles, J, Martin-Prado, S, Schwartz, JD, Soulier, J, Bueren, JA, Sevilla, J. Eltrombopag for Bone Marrow Failure in Fanconi Anemia: Results From the Phase II Clinical Trial FANCREV. EUROPEAN JOURNAL OF HAEMATOLOGY. 2025; 115(4)DOI:10.1111/ejh.70007. PMID:40665878. IF:2.300(Q2/5D).

Beddok, A, Velleuer, E, Fontbrune, FSD, Brakenhoff, RH, Dalle, JH, Dufour, C, Faivre, S, Genet, C, Klijanienko, J, Krieg, C, Leblanc, T, Martinez, P, Latour, RP, Rigolet, A, Saintigny, P, Lyonnet, DS, Soulier, J, Surralles, J, Schramm, M, Thariat, J. Strategies for early detection and detailed characterization of oral lesions and head and neck squamous cell carcinoma in Fanconi anemia patients. CANCER LETTERS. 2025; 617DOI:10.1016/j.canlet.2025.217529. PMID:40054658. IF:10.100(Q1/1D).

Ramírez, MJ, Pujol, R, Minguillón, J, Bogliolo, M, Persico, I, Cavero, D, de la Cal, A, Río, P, Navarro, S, Casado, JA, Bailador, A, de la Fuente, AS, de Heredia, ML, Almazán, F, Antelo, ML, Argilés, B, Badell, I, Baragaño, M, Beléndez, C, Bermúdez, M, Bernués, M, Buedo, MI, Carrasco, E, Català, A, Costa, D, Cuesta, I, Fernández-Delgado, R, Fernández-Teijeir, A, Figuera, A, García, M, Gondra, A, González, M, Muñiz, SG, Hernández-Rodríguez, I, Ibañez, F, Kelleher, NJ, Lendínez, F, López, M, López-Almaraz, R, Marchante, I, Mendoza, C, Nieto, J, Ojeda, E, Payán-Pernía, S, Peláez, I, de Soto, IP, Portugal, R, Ramos-Arroyo, MA, Regueiro, A, Rodríguez, A, Rosell, J, Saez, R, Sánchez, J, Sánchez, M, Senent, ML, Tapia, M, Trujillo-Quintero, JP, Vagace, JM, Verdú-Amorós, J, Verdugo, V, Vidales, I, Villarreal, J, Díaz-de-Heredia, C, Sevilla, J, Bueren, J, Surralles, J. Prognostic significance of mutation type and chromosome fragility in Fanconi anemia. AMERICAN JOURNAL OF HEMATOLOGY. 2025; 100(2)DOI:10.1002/ajh.27520. PMID:39562502. IF:9.900(Q1/1D).

Camps-Fajol, C, Cavero, D, Minguillon, J, Surralles, J. Targeting protein-protein interactions in drug discovery: Modulators approved or in clinical trials for cancer treatment. PHARMACOLOGICAL RESEARCH. 2025; 211DOI:10.1016/j.phrs.2024.107544. PMID:39667542. IF:10.500(Q1/1D).

Segarra-Casas, A, Iruzubieta, P, Kapetanovic, S, Hernández-Laín, A, Jericó, I, Fernández-Torrón, R, Maneiro, M, Marco-Moreno, P, Zelaya-Huerta, MV, Rodríguez-Santiago, B, Calafell, F, Töpf, A, Straub, V, Vallejo-Illarramendi, A, de Munain, AL, Gallano, P, Gonzalez-Quereda, L. A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps. EUROPEAN JOURNAL OF NEUROLOGY. 2025; 32(1)DOI:10.1111/ene.16471. PMID:39742415. IF:3.900(Q1/3D).

Río, P, Zubicaray, J, Navarro, S, Gálvez, E, Sánchez-Domínguez, R, Nicoletti, E, Sebastian, E, Rothe, M, Pujol, R, Bogliolo, M, John-Neek, P, Bastone, AL, Schambach, A, Wang, W, Schmidt, M, Larcher, L, Segovia, JC, Yáñez, RM, Alberquilla, O, Diez, B, Fernández-García, M, García-García, L, Ramírez, M, Galy, A, Lefrere, F, Cavazzana, M, Leblanc, T, de Andoin, NG, López-Almaraz, R, Catala, A, Barquinero, J, Rodríguez-Perales, S, Rao, G, Surrallés, J, Soulier, J, Díaz-de-Heredia, C, Schwartz, JD, Sevilla, J, Bueren, JA. Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials. LANCET. 2024; 404(10471)DOI:10.1016/S0140-6736(24)01880-4. PMID:39642902. IF:88.500(Q1/1D).

Persico I., Fontana G., Faleschini M., Zanchetta M.E., Ammeti D., Cappelli E., Corsolini F., Mosa C., Guarina A., Bogliolo M., Surrallés J., Dufour C., Farruggia P., Savoia A., Bottega R.. A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C & gt;G splicing mutation. Frontiers in Genetics. 2023; 14DOI:10.3389/fgene.2023.1209138. PMID:37547463. IF:2.800(Q2/5D).

Lee, EM, Verma, M, Palaniappan, N, Pope, EM, Lee, S, Blacher, L, Neerumalla, P, An, W, Campbell, T, Brown, C, Hurst, S, Marshall, B, Hershey, T, Nunes, V, de Heredia, ML, Urano, F. Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders. Frontiers in Genetics. 2023; 14DOI:10.3389/fgene.2023.1198171. PMID:37415600. IF:2.800(Q2/5D).

Dobarro, D, Donoso-Trenado, V, Sole-Gonzalez, E, Moliner-Abos, C, Garcia-Pinilla, JM, Lopez-Fernandez, S, Ruiz-Bustillo, S, Diez-Lopez, C, Castrodeza, J, Mendez-Fernandez, AB, Vaqueriza-Cubillo, D, Cobo-Marcos, M, Tobar, J, Sagasti-Aboitiz, I, Rodriguez, M, Escolar, V, Abecia, A, Codina, P, Gomez-Otero, I, Pastor, F, Marzoa-Rivas, R, Gonzalez-Babarro, E, de Juan-Baguda, J, Melendo-Viu, M, de Frutos, F, Gonzalez-Costello, J. Intermittent inotropic support with levosimendan in advanced heart failure as destination therapy: The LEVO-D registry. ESC Heart Failure. 2023; 10(2)DOI:10.1002/ehf2.14278. PMID:36655614. IF:3.200(Q2/3D).

López-López D., Roldán G., Fernández-Rueda J.L., Bostelmann G., Carmona R., Aquino V., Perez-Florido J., Ortuño F., Pita G., Núñez-Torres R., González-Neira A., Alonso A., Salgado-Garrido J., Pasalodos-Sanchez S., Ayuso C., Minguez P., Avila-Fernandez A., Corton M., Artuch R., Borrego S., Antiñolo G., Carracedo A., Amigo J., Castaño L.A., Tejada I., Delmiro A., Espinos C., Grinberg D., Guillén E., Lapunzina P., Lopez-Escámez J.A., Gallego-Martinez A., Martí R., Rovira E., Millán J.M., Moreno M.A., Morin M., Moreno-Galdó A., Fernández-Cancio M., Morte B., Mulero V., García D., Nunes V., Palau F., Perez B., Jurado L.P., Perona R., Pujol A., Ramos F., Lopez E., Ribes A., Rosell J., Surrallés J., Peña-Chilet M., Dopazo J.. A crowdsourcing database for the copy-number variation of the Spanish population. Human Genomics. 2023; 17(1)DOI:10.1186/s40246-023-00466-8. PMID:36894999. IF:3.800(Q2/3D).

de Juan Bagudá J., de Frutos F., López-Vilella R., Couto Mallón D., Guzman-Bofarull J., Blazquez-Bermejo Z., Cobo-Belaustegui M., Mitroi C., Pastor-Pérez F.J., Moliner-Abós C., Rangel-Sousa D., Díaz-Molina B., Tobar-Ruiz J., Salterain Gonzalez N., García-Pinilla J.M., García-Cosío Carmena M.D., Crespo-Leiro M.G., Dobarro D., Almenar L., Delgado-Jiménez J.F., Paredes-Galán E., González-Vílchez F., González-Costello J.. Repetitive ambulatory levosimendan as a bridge to heart transplantation. REVISTA ESPANOLA DE CARDIOLOGIA. 2023; DOI:10.1016/j.recesp.2023.07.005. PMID:. IF:(Q/D).

Casado, JA, Valeri, A, Sanchez-Dominguez, R, Vela, P, Lopez, A, Navarro, S, Alberquilla, O, Hanenberg, H, Pujol, R, Segovia, JC, Minguillon, J, Surralles, J, de Heredia, CD, Sevilla, J, Rio, P, Bueren, JA. Upregulation of NKG2D ligands impairs hematopoietic stem cell function in Fanconi anemia. JOURNAL OF CLINICAL INVESTIGATION. 2022; 132(15)DOI:10.1172/JCI142842. PMID:35671096. IF:15.900(Q1/1D).

Pollard, JA, Furutani, E, Liu, SS, Esrick, E, Cohen, LE, Bledsoe, J, Liu, CW, Lu, K, de Haro, MJR, Sumalles, J, Malsch, M, Kuniholm, A, Galvin, A, Armant, M, Kim, AS, Ballotti, K, Moreau, L, Zhou, Y, Babushok, D, Boulad, F, Carroll, C, Hartung, H, Hont, A, Nakano, T, Olson, T, Sze, SG, Thompson, AA, Wlodarski, MW, Gu, XS, Libermann, TA, D'Andrea, A, Grompe, M, Weller, E, Shimamura, A. Metformin for treatment of cytopenias in children and young adults with Fanconi anemia. Blood Advances. 2022; 6(12)DOI:10.1182/bloodadvances.2021006490. PMID:35500223. IF:7.500(Q1/2D).

Luque, J, Mendes, I, Gomez, B, Morte, B, de Heredia, ML, Herreras, E, Corrochano, V, Bueren, J, Gallano, P, Artuch, R, Fillat, C, Perez-Jurado, LA, Montoliu, L, Carracedo, A, Millan, JM, Webb, SM, Palau, F, Lapunzina, P. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. CLINICAL GENETICS. 2022; 101(5-6)DOI:10.1111/cge.14113. PMID:35060122. IF:3.500(Q2/4D).

Encarnacion, JA, Cerezuela, P, Espanol, I, Garcia, MR, Manso, C, De la Fuente, I, Garrigos, N, Viney, A, Minguillon, J, Surralles, J. Fanconi-like anemia related to a FANCM mutation. European Journal of Medical Genetics. 2022; 65(1)DOI:10.1016/j.ejmg.2021.104399. PMID:34793962. IF:1.900(Q4/8D).

Minguillon, J, Ramirez, MJ, Rovirosa, L, Bustamante-Madrid, P, Camps-Fajol, C, de Garibay, GR, Shimelis, H, Montanuy, H, Pujol, R, Hernandez, G, Bogliolo, M, Castillo, P, Soucy, P, Martrat, G, Gomez, A, Cuadras, D, Garcia, MJ, Gayarre, J, Lazaro, C, Benitez, J, Couch, FJ, Pujana, MA, Surralles, J. CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival. Cancers. 2022; 14(2)DOI:10.3390/cancers14020353. PMID:35053516. IF:5.200(Q2/3D).

Webster A.L.H., Sanders M.A., Patel K., Dietrich R., Noonan R.J., Lach F.P., White R.R., Goldfarb A., Hadi K., Edwards M.M., Donovan F.X., Hoogenboezem R.M., Jung M., Sridhar S., Wiley T.F., Fedrigo O., Tian H., Rosiene J., Heineman T., Kennedy J.A., Bean L., Rosti R.O., Tryon R., Gonzalez A.-M., Rosenberg A., Luo J.-D., Carroll T.S., Shroff S., Beaumont M., Velleuer E., Rastatter J.C., Wells S.I., Surrallés J., Bagby G., MacMillan M.L., Wagner J.E., Cancio M., Boulad F., Scognamiglio T., Vaughan R., Beaumont K.G., Koren A., Imielinski M., Chandrasekharappa S.C., Auerbach A.D., Singh B., Kutler D.I., Campbell P.J., Smogorzewska A.. Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer. NATURE. 2022; 612(7940)DOI:10.1038/s41586-022-05253-4. PMID:36450981. IF:64.800(Q1/1D).