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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
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.
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A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.
Berry V, Pontikos N, Albarca-Aguilera M, Plagnol V, Massouras A, Prescott D, Moore AT, Arno G, Cheetham ME, Michaelides M.
Berry V, et al. Among authors: albarca aguilera m.
Ophthalmic Genet. 2018 Apr;39(2):236-241. doi: 10.1080/13816810.2017.1381977. Epub 2017 Oct 17.
Ophthalmic Genet. 2018.
PMID: 29039721
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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.
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Drosophila Myc interacts with host cell factor (dHCF) to activate transcription and control growth.
Furrer M, Balbi M, Albarca-Aguilera M, Gallant M, Herr W, Gallant P.
Furrer M, et al. Among authors: albarca aguilera m.
J Biol Chem. 2010 Dec 17;285(51):39623-36. doi: 10.1074/jbc.M110.140467. Epub 2010 Oct 11.
J Biol Chem. 2010.
PMID: 20937797
Free PMC article.
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