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Revision of RUNX1 variant curation rules.
Feurstein S, Luo X, Shah M, Walker T, Mehta N, Wu D, Godley LA. Feurstein S, et al. Blood Adv. 2022 Aug 23;6(16):4726-4730. doi: 10.1182/bloodadvances.2022008017. Blood Adv. 2022. PMID: 35764482 Free PMC article. No abstract available.
Germline variants drive myelodysplastic syndrome in young adults.
Feurstein S, Churpek JE, Walsh T, Keel S, Hakkarainen M, Schroeder T, Germing U, Geyh S, Heuser M, Thol F, Pohlkamp C, Haferlach T, Gao J, Owen C, Goehring G, Schlegelberger B, Verma D, Krause DS, Gao G, Cronin T, Gulsuner S, Lee M, Pritchard CC, Subramanian HP, Del Gaudio D, Li Z, Das S, Kilpivaara O, Wartiovaara-Kautto U, Wang ES, Griffiths EA, Döhner K, Döhner H, King MC, Godley LA. Feurstein S, et al. Leukemia. 2021 Aug;35(8):2439-2444. doi: 10.1038/s41375-021-01137-0. Epub 2021 Jan 28. Leukemia. 2021. PMID: 33510405 Free PMC article. No abstract available.
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.
Wilcox EH, Webb RF, Tshering KC, Hughes MY, Cavé H, DiStefano MT, Dziadzio H, Garber K, Gelb BD, Gripp KW, Ichikawa S, Lee JA, McCurry H, Tartaglia M, Williams B, Zenker M, Vincent LM, Mason-Suares H; ClinGen RASopathy Expert Panel. Wilcox EH, et al. Genet Med Open. 2025 Apr 17;3:103430. doi: 10.1016/j.gimo.2025.103430. eCollection 2025. Genet Med Open. 2025. PMID: 40496714 Free PMC article.