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African-specific molecular taxonomy of prostate cancer.
Jaratlerdsiri W, Jiang J, Gong T, Patrick SM, Willet C, Chew T, Lyons RJ, Haynes AM, Pasqualim G, Louw M, Kench JG, Campbell R, Horvath LG, Chan EKF, Wedge DC, Sadsad R, Brum IS, Mutambirwa SBA, Stricker PD, Bornman MSR, Hayes VM. Jaratlerdsiri W, et al. Among authors: pasqualim g. Nature. 2022 Sep;609(7927):552-559. doi: 10.1038/s41586-022-05154-6. Epub 2022 Aug 31. Nature. 2022. PMID: 36045292 Free PMC article.
Genome-wide interrogation of structural variation reveals novel African-specific prostate cancer oncogenic drivers.
Gong T, Jaratlerdsiri W, Jiang J, Willet C, Chew T, Patrick SM, Lyons RJ, Haynes AM, Pasqualim G, Brum IS, Stricker PD, Mutambirwa SBA, Sadsad R, Papenfuss AT, Bornman RMS, Chan EKF, Hayes VM. Gong T, et al. Among authors: pasqualim g. Genome Med. 2022 Aug 31;14(1):100. doi: 10.1186/s13073-022-01096-w. Genome Med. 2022. PMID: 36045381 Free PMC article.
Worldwide distribution of common IDUA pathogenic variants.
Poletto E, Pasqualim G, Giugliani R, Matte U, Baldo G. Poletto E, et al. Among authors: pasqualim g. Clin Genet. 2018 Jul;94(1):95-102. doi: 10.1111/cge.13224. Epub 2018 Apr 11. Clin Genet. 2018. PMID: 29393969 Review.
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Málaga DR, Brusius-Facchin AC, Siebert M, Pasqualim G, Saraiva-Pereira ML, Souza CFM, Schwartz IVD, Matte U, Giugliani R. Málaga DR, et al. Among authors: pasqualim g. Genet Mol Biol. 2019;42(1 suppl 1):197-206. doi: 10.1590/1678-4685-GMB-2018-0092. Epub 2019 Apr 11. Genet Mol Biol. 2019. PMID: 30985853 Free PMC article.
26 results