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Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs). J Med Genet. 2024;61(10):927-934. doi:10.1136/jmg-2024-110109.
Nature. 2023;621(7977):E7-E26. doi:10.1038/s41586-023-06355-3.
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.
. An SPM-Enriched Marine Oil Supplement Shifted Microglia Polarization toward M2, Ameliorating Retinal Degeneration in Mice. Antioxidants (Basel). 2022;12(1). doi:10.3390/antiox12010098.
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Genes. 2021;12(5):738. doi:10.3390/genes12050738.
SMN1 copy-number and sequence variant analysis from next-generation sequencing data. Hum Mutat. 2020;41(12):2073-2077. doi:10.1002/humu.24120.
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.
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.
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.
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.
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: http://inderscience.metapress.com/content/f76740x8071u513n/.
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.
Sexual selection halts the relaxation of protamine 2 among rodents. PloS one. 2011;6:e29247. doi:10.1371/journal.pone.0029247.
Structure determination of genomic domains by satisfaction of spatial restraints. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology. 2011;19:25-35.
. SUS1 introns are required for efficient mRNA nuclear export in yeast. Nucleic acids research. 2011;39:8599-611.
Selection upon Genome Architecture: Conservation of Functional Neighborhoods with Changing Genes. PLoS Comput. Biol. 2010;6:e1000953. doi:doi:10.1371/journal.pcbi.1000953.
. 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.
. SIMAP–a comprehensive database of pre-calculated protein sequence similarities, domains, annotations and clusters. Nucleic acids research. 2010;38:D223-6.
SARA: a server for function annotation of RNA structures. Nucl. Acids Res. 2009:gkp433. doi:10.1093/nar/gkp433.
. Sexual selection drives weak positive selection in protamine genes and high promoter divergence, enhancing sperm competitiveness. Proc Biol Sci. 2009. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=19364735.
. 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.
. Statistical methods for analysis of high-throughput RNA interference screens. Nature Methods. 2009;6:569 - 575. Available at: http://dx.doi.org/10.1038/nmeth.1351.
Structural Comparison and Alignment. In: Structural Bioinformatics. 2ndnd ed. Structural Bioinformatics. New Jersey. USA: Wiley-Blackwell; 2009. Available at: http://www.amazon.com/gp/product/0470181052/.
. 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.
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