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Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R. Trujillano D, et al. Eur J Hum Genet. 2017 Feb;25(2):176-182. doi: 10.1038/ejhg.2016.146. Epub 2016 Nov 16. Eur J Hum Genet. 2017. PMID: 27848944 Free PMC article.
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
Bertoli-Avella AM, Garcia-Aznar JM, Brandau O, Al-Hakami F, Yüksel Z, Marais A, Grüning NM, Abbasi Moheb L, Paknia O, Alshaikh N, Alameer S, Marafi MJ, Al-Mulla F, Al-Sannaa N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Eur J Hum Genet. 2018 Apr;26(4):592-598. doi: 10.1038/s41431-018-0097-3. Epub 2018 Feb 15. Eur J Hum Genet. 2018. PMID: 29449720 Free PMC article.
Physico-chemical characterization of the tumour microenvironment of pancreatic ductal adenocarcinoma.
García-Gareta E, Calderón-Villalba A, Alamán-Díez P, Costa CG, Guerrero PE, Mur C, Flores AR, Jurjo NO, Sancho P, Pérez MÁ, García-Aznar JM. García-Gareta E, et al. Among authors: garcia aznar jm. Eur J Cell Biol. 2024 Feb 12;103(2):151396. doi: 10.1016/j.ejcb.2024.151396. Online ahead of print. Eur J Cell Biol. 2024. PMID: 38359522 Free article.
Novel frameshift variants expand the map of the genetic defects in IRF2BP2.
García-Aznar JM, Maneiro Pampín E, García Ramos M, Acuña Pérez MJ, Paz Gandiaga N, Minguell Domingo L, Calavia O, Soler-Palacin P, Colobran R, Novoa Bolívar EM, Ocejo Vinyals JG. García-Aznar JM, et al. Front Immunol. 2023 Oct 9;14:1279171. doi: 10.3389/fimmu.2023.1279171. eCollection 2023. Front Immunol. 2023. PMID: 37876937 Free PMC article.
155 results