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).