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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
Fokstuen S, Makrythanasis P, Hammar E, Guipponi M, Ranza E, Varvagiannis K, Santoni FA, Albarca-Aguilera M, Poleggi ME, Couchepin F, Brockmann C, Mauron A, Hurst SA, Moret C, Gehrig C, Vannier A, Bevillard J, Araud T, Gimelli S, Stathaki E, Paoloni-Giacobino A, Bottani A, Sloan-Béna F, Sizonenko LD, Mostafavi M, Hamamy H, Nouspikel T, Blouin JL, Antonarakis SE. Fokstuen S, et al. Among authors: albarca aguilera m. Hum Genomics. 2016 Jun 28;10(1):24. doi: 10.1186/s40246-016-0080-4. Hum Genomics. 2016. PMID: 27353043 Free PMC article. Review.
VarSome: the human genomic variant search engine.
Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca Aguilera M, Meyer R, Massouras A. Kopanos C, et al. Among authors: albarca aguilera m. Bioinformatics. 2019 Jun 1;35(11):1978-1980. doi: 10.1093/bioinformatics/bty897. Bioinformatics. 2019. PMID: 30376034 Free PMC article.
Genomic variation and its impact on gene expression in Drosophila melanogaster.
Massouras A, Waszak SM, Albarca-Aguilera M, Hens K, Holcombe W, Ayroles JF, Dermitzakis ET, Stone EA, Jensen JD, Mackay TF, Deplancke B. Massouras A, et al. Among authors: albarca aguilera m. PLoS Genet. 2012;8(11):e1003055. doi: 10.1371/journal.pgen.1003055. Epub 2012 Nov 15. PLoS Genet. 2012. PMID: 23189034 Free PMC article.