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Author Title Type [ Year
] Filters: Author is Dopazo, Joaquin and Keyword is Genetic Predisposition to Disease [Clear All Filters]
Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs). J Med Genet. 2024;61(10):927-934. doi:10.1136/jmg-2024-110109.
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.
Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis. Oncotarget. 2017;8(7):11589-11599. doi:10.18632/oncotarget.14140.
. A Pan-Cancer Catalogue of Cancer Driver Protein Interaction Interfaces. PLoS Comput Biol. 2015;11(10):e1004518. doi:10.1371/journal.pcbi.1004518.
Pathways systematically associated to Hirschsprung's disease. Orphanet J Rare Dis. 2013;8:187. doi:10.1186/1750-1172-8-187.
Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease. Orphanet J Rare Dis. 2012;7:103. doi:10.1186/1750-1172-7-103.
Exploring the link between germline and somatic genetic alterations in breast carcinogenesis. PLoS One. 2010;5(11):e14078. doi:10.1371/journal.pone.0014078.
. Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans. Hum Mutat. 2008;29(1):198-204. doi:10.1002/humu.20628.