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Gabaldón T, Huynen MA. Reconstruction of the proto-mitochondrial metabolism. Science. 2003;301:609. Available at:
Del Pozo MGonzález-, Bravo-Gil N, Méndez-Vidal C, et al. Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. Am J Med Genet A. 2015;167(7):1597-600. doi:10.1002/ajmg.a.37003.
Carbonell-Caballero J, Amadoz A, Alonso R, et al. Reference genome assessment from a population scale perspective: an accurate profile of variability and noise. Bioinformatics. 2017;33(22):3511-3517. doi:10.1093/bioinformatics/btx482.
Topf M, Baker ML, Marti-Renom MA, Chiu W, Sali A. Refinement of protein structures by iterative comparative modeling and CryoEM density fitting. J Mol Biol. 2006;357:1655-68. Available at:
Marti-Renom MA, Madhusudhan MS, Fiser A, Rost B, Sali A. Reliability of assessment of protein structure prediction methods. Structure. 2002;10:435-40. Available at:
Huynen MA, Snel B, T G. Reliable and specific protein function prediction by combining homology with genomic(s) context. In: Discovery of biomolecular mechanisms with theoretical data analyses. Discovery of biomolecular mechanisms with theoretical data analyses. F. Eisenhaber, Landes Bioscience; 2006. Available at:
Mirzayi C, Renson A, Zohra F, et al. Reporting guidelines for human microbiome research: the STORMS checklist. Nat Med. 2021;27(11):1885-1892. doi:10.1038/s41591-021-01552-x.
Capriotti E, Marti-Renom MA. RNA structure alignment by a unit-vector approach. Bioinformatics. 2008;24:i112-8. Available at:
Puig-Butille JAnton, Malvehy J, Potrony M, et al. Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters. Exp Dermatol. 2013;22(7):494-6. doi:10.1111/exd.12177.
García-Alonso L, Jiménez-Almazán J, Carbonell-Caballero J, et al. The role of the interactome in the maintenance of deleterious variability in human populations. Mol Syst Biol. 2014;10:752. doi:10.15252/msb.20145222.
Martín-Trillo M, Grandío EGonzález, Serra F, et al. Role of tomato BRANCHED1-like genes in the control of shoot branching. The Plant journal : for cell and molecular biology. 2011;67:701-14. doi:10.1111/j.1365-313X.2011.04629.x.
Antón J, Peña A, Valens M, et al. Salinibacter ruber: genomics and biogeography. In: Adaptation to life in high salt concentrations in Archaea, Bacteria and Eukarya.Vol 9. Adaptation to life in high salt concentrations in Archaea, Bacteria and Eukarya. Dordrecht, Netherlands: Nina Gunde-Cimerman, Ana Plemenitas, and Aharon Oren. Kluwer Academic Publishers; 2005:257-266.
Capriotti E, Marti-Renom MA. SARA: a server for function annotation of RNA structures. Nucl. Acids Res. 2009:gkp433. doi:10.1093/nar/gkp433.
Tenorio-Castaño J, Morte B, Nevado J, et al. Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Genes. 2021;12(5):738. doi:10.3390/genes12050738.
Urreizti R, Roca-Ayats N, Trepat J, et al. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. Am J Med Genet A. 2016;170A(1):24-31. doi:10.1002/ajmg.a.37418.
A second update on mapping the human genetic architecture of COVID-19. Nature. 2023;621(7977):E7-E26. doi:10.1038/s41586-023-06355-3.
Conesa A, Punt PJ, van Luijk N, van den Hondel CA. The secretion pathway in filamentous fungi: a biotechnological view. Fungal Genet Biol. 2001;33:155-71. Available at:
Lorente-Galdos B, Medina I, Morcillo-Suarez C, et al. Select your SNPs (SYSNPs): a web tool for automatic and massive selection of SNPs. International journal of data mining and bioinformatics. 2012;6:324-34. Available at:
Al-Shahrour F, Minguez P, Marqués-Bonet T, Gazave E, Navarro A, Dopazo J. Selection upon Genome Architecture: Conservation of Functional Neighborhoods with Changing Genes. PLoS Comput. Biol. 2010;6:e1000953. doi:doi:10.1371/journal.pcbi.1000953.
Dopazo H. Selective Constraints and Human Disease Genes: Evolutionary and Bioinformatic Approaches. In: Encyclopedia of Life Science. Encyclopedia of Life Science. UK: John Wiley & Sons, Ltd.; 2008. doi:10.1002/9780470015902.a0020762.
Dopazo H. Selective Constraints on Human Disease Mutations and Polymorphisms. In: Handbook of Human Molecular Evolution. Handbook of Human Molecular Evolution. UK: Hildegard Kehrer-Sawatzki & David N. Cooper. John Wiley & Sons, Ltd; 2008. Available at:,descCd-description.html.
Arbiza L, Duchi S, Montaner D, et al. Selective pressures at a codon-level predict deleterious mutations in human disease genes. J Mol Biol. 2006;358:1390-404. Available at:
Larriba E, Jaime MDLA, Carbonell-Caballero J, et al. Sequencing and functional analysis of the genome of a nematode egg-parasitic fungus, Pochonia chlamydosporia. Fungal Genet Biol. 2014;65:69-80. doi:10.1016/j.fgb.2014.02.002.
Nueda MJosé, Carbonell J, Medina I, Dopazo J, Conesa A. Serial Expression Analysis: a web tool for the analysis of serial gene expression data. Nucleic Acids Res. 2010;38(Web Server issue):W239-45. doi:10.1093/nar/gkq488.
Puchades-Carrasco L, Jantus-Lewintre E, Pérez-Rambla C, et al. Serum metabolomic profiling facilitates the non-invasive identification of metabolic biomarkers associated with the onset and progression of non-small cell lung cancer. Oncotarget. 2016;7(11):12904-16. doi:10.18632/oncotarget.7354.