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01/05/2022
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
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).
01/01/2022
Fanconi-like anemia related to a FANCM mutation
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).
01/01/2022
CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival
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).
01/01/2022
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer
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).