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Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A, Kangas-Kontio T, Irving M, Hero M, Saarinen I, Pelttari L, Gall K, Valo S, Huusko JM, Tallila J, Sistonen J, Koskenvuo J, Alastalo TP. Scocchia A, et al. Among authors: valo s. Orphanet J Rare Dis. 2022 Feb 17;17(1):59. doi: 10.1186/s13023-022-02242-8. Orphanet J Rare Dis. 2022. PMID: 35177119 Free PMC article. No abstract available.
DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.
Mäki-Nevala S, Valo S, Ristimäki A, Sarhadi V, Knuutila S, Nyström M, Renkonen-Sinisalo L, Lepistö A, Mecklin JP, Peltomäki P. Mäki-Nevala S, et al. Among authors: valo s. EBioMedicine. 2019 Jan;39:280-291. doi: 10.1016/j.ebiom.2018.12.018. Epub 2018 Dec 18. EBioMedicine. 2019. PMID: 30578081 Free PMC article.
Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.
Nieminen TT, O'Donohue MF, Wu Y, Lohi H, Scherer SW, Paterson AD, Ellonen P, Abdel-Rahman WM, Valo S, Mecklin JP, Järvinen HJ, Gleizes PE, Peltomäki P. Nieminen TT, et al. Among authors: valo s. Gastroenterology. 2014 Sep;147(3):595-598.e5. doi: 10.1053/j.gastro.2014.06.009. Epub 2014 Jun 15. Gastroenterology. 2014. PMID: 24941021 Free PMC article.
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