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Author [ Title] Type Year Filters: Author is Dopazo, Joaquin [Clear All Filters]
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.
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.
Reporting guidelines for human microbiome research: the STORMS checklist. Nat Med. 2021;27(11):1885-1892. doi:10.1038/s41591-021-01552-x.
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.
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.
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.
Selection upon Genome Architecture: Conservation of Functional Neighborhoods with Changing Genes. PLoS Comput. Biol. 2010;6:e1000953. doi:doi:10.1371/journal.pcbi.1000953.
. 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.
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.
. 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.
SigPrimedNet: A Signaling-Informed Neural Network for scRNA-seq Annotation of Known and Unknown Cell Types. Biology (Basel). 2023;12(4). doi:10.3390/biology12040579.
. SMN1 copy-number and sequence variant analysis from next-generation sequencing data. Hum Mutat. 2020;41(12):2073-2077. doi:10.1002/humu.24120.
SNOW, a web-based tool for the statistical analysis of protein-protein interaction networks. Nucleic Acids Res. 2009;37(Web Server issue):W109-14. doi:10.1093/nar/gkp402.
. SNOW, a web-based tool for the statistical analysis of protein-protein interaction networks. Nucl. Acids Res. 2009;37:W109-114. doi:10.1093/nar/gkp402.
. SNP and haplotype mapping for genetic analysis in the rat. Nat Genet. 2008;40(5):560-6. doi:10.1038/ng.124.
SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants. Nucleic Acids Res. 2012;40(Database issue):D935-9. doi:10.1093/nar/gkr996.
Stress-induced activation of brown adipose tissue prevents obesity in conditions of low adaptive thermogenesis. Mol Metab. 2016;5(1):19-33. doi:10.1016/j.molmet.2015.10.005.
Taxonomic variations in the gut microbiome of gout patients with and without tophi might have a functional impact on urate metabolism. Mol Med. 2021;27(1):50. doi:10.1186/s10020-021-00311-5.
Towards a metagenomics machine learning interpretable model for understanding the transition from adenoma to colorectal cancer. Sci Rep. 2022;12(1):450. doi:10.1038/s41598-021-04182-y.
. Transcriptomic Analysis of a Diabetic Skin-Humanized Mouse Model Dissects Molecular Pathways Underlying the Delayed Wound Healing Response. Genes (Basel). 2020;12(1). doi:10.3390/genes12010047.
The transcriptomics of an experimentally evolved plant-virus interaction. Sci Rep. 2016;6:24901. doi:10.1038/srep24901.
. Transdifferentiation of MALME-3M and MCF-7 Cells toward Adipocyte-like Cells is Dependent on Clathrin-mediated Endocytosis. SpringerPlus. 2012;1:44. doi:10.1186/2193-1801-1-44.
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat. 2014;35(4):470-7. doi:10.1002/humu.22513.
Understanding disease mechanisms with models of signaling pathway activities. BMC systems biology. 2014;8:121. doi:10.1186/s12918-014-0121-3.
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.
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