Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism

por Mazarico-Altisent, I., Capel, I., Baena, N., Bella-Cueto, M. R., Barcons, S., Guirao, X., Albert, L., Cano, A., Pareja, R., Caixàs, A., Rigla, M.
Publicado 2022

High genetic diagnostic yield in children and adolescents with psychiatric disorders

por Manso-Bazús, C., Spataro, N., Torrent, L., Plans, L., Casadesús, M., Tomás, M., Baena, N., Trujillo, J. P., Capdevila, N., Brunet, A., Martínez-Glez, V., Pàmias, M., Ruiz Nel·lo, A.
Publicado 2023

Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease

por Vélez, J I, Chandrasekharappa, S C, Henao, E, Martinez, A F, Harper, U, Jones, M, Solomon, B D, Lopez, L, Garcia, G, Aguirre-Acevedo, D C, Acosta-Baena, N, Correa, J C, Lopera-Gómez, C M, Jaramillo-Elorza, M C, Rivera, D, Kosik, K S, Schork, N J, Swanson, J M, Lopera, F, Arcos-Burgos, M
Publicado 2013