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P
Eduati F, Mangravite LM, Wang T, et al. Prediction of human population responses to toxic compounds by a collaborative competition. Nature biotechnology. 2015. doi:10.1038/nbt.3299.
Alvarez S, Diaz-Uriarte R, Osorio A, et al. A predictor based on the somatic genomic changes of the BRCA1/BRCA2 breast cancer tumors identifies the non-BRCA1/BRCA2 tumors with BRCA1 promoter hypermethylation. Clin Cancer Res. 2005;11:1146-53. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15709182.
Baz-Redón N, Sánchez-Bellver L, Fernández-Cancio M, et al. Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel Variant and Possible Modifier Gene. Cells. 2024;13(6). doi:10.3390/cells13060524.
Durban J, Juárez P, Angulo Y, et al. Profiling the venom gland transcriptomes of Costa Rican snakes by 454 pyrosequencing. BMC genomics. 2011;12:259.
Durban J, Juárez P, Angulo Y, et al. Profiling the venom gland transcriptomes of Costa Rican snakes by 454 pyrosequencing. BMC genomics. 2011;12:259.
Gutiérrez J, González-Pérez S, Garcia-Garcia F, et al. Programmed cell death activated by Rose Bengal in Arabidopsis thaliana cell suspension cultures requires functional chloroplasts. Journal of experimental botany. 2014. doi:10.1093/jxb/eru151.
Koziol A, Gonzalo P, Mota A, et al. The protease MT1-MMP drives a combinatorial proteolytic program in activated endothelial cells. FASEB J. 2012;26(11):4481-94. doi:10.1096/fj.12-205906.
Koziol A, Gonzalo P, Mota A, et al. The protease MT1-MMP drives a combinatorial proteolytic program in activated endothelial cells. FASEB J. 2012;26(11):4481-94. doi:10.1096/fj.12-205906.
Ortiz-Aljaro P, Montes-Cano MAntonio, García-Lozano J-R, et al. Protein and functional isoform levels and genetic variants of the BAFF and APRIL pathway components in systemic lupus erythematosus. Sci Rep. 2022;12(1):11219. doi:10.1038/s41598-022-15549-0.
Conde L, Vaquerizas JM, Santoyo J, et al. PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level. Nucleic Acids Res. 2004;32:W242-8. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15215388.
Conde L, Vaquerizas JM, Dopazo H, et al. PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes. Nucleic Acids Res. 2006;34:W621-5. Available at: http://nar.oxfordjournals.org/cgi/content/full/34/suppl_2/W621.
R
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.
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.
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.
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.
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.
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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.
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.
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.
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.
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.
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.
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.