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Clinical testing panels for ALS: global distribution, consistency, and challenges.
Dilliott AA, Al Nasser A, Elnagheeb M, Fifita J, Henden L, Keseler IM, Lenz S, Marriott H, Mccann E, Mesaros M, Opie-Martin S, Owens E, Palus B, Ross J, Wang Z, White H, Al-Chalabi A, Andersen PM, Benatar M, Blair I, Cooper-Knock J, Harrington EA, Heckmann J, Landers J, Moreno C, Nel M, Rampersaud E, Roggenbuck J, Rouleau G, Traynor B, Van Blitterswijk M, Van Rheenen W, Veldink J, Weishaupt J, Drury L, Harms MB, Farhan SMK; Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel. Dilliott AA, et al. Among authors: ross j. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug;24(5-6):420-435. doi: 10.1080/21678421.2023.2173015. Epub 2023 Mar 10. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 36896705 Review.
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Luo X, Feurstein S, Mohan S, Porter CC, Jackson SA, Keel S, Chicka M, Brown AL, Kesserwan C, Agarwal A, Luo M, Li Z, Ross JE, Baliakas P, Pineda-Alvarez D, DiNardo CD, Bertuch AA, Mehta N, Vulliamy T, Wang Y, Nichols KE, Malcovati L, Walsh MF, Rawlings LH, McWeeney SK, Soulier J, Raimbault A, Routbort MJ, Zhang L, Ryan G, Speck NA, Plon SE, Wu D, Godley LA. Luo X, et al. Among authors: ross je. Blood Adv. 2019 Oct 22;3(20):2962-2979. doi: 10.1182/bloodadvances.2019000644. Blood Adv. 2019. PMID: 31648317 Free PMC article.
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework.
Ross JE, Mohan S, Zhang J, Sullivan MJ, Bury L, Lee K, Futchi I, Frantz A, McDougal D, Perez Botero J, Cattaneo M, Cooper N, Downes K, Gresele P, Keenan C, Lee AI, Megy K, Morange PE, Morgan NV, Schulze H, Zimowski K, Freson K, Lambert MP. Ross JE, et al. J Thromb Haemost. 2024 Mar;22(3):645-665. doi: 10.1016/j.jtha.2023.11.011. Epub 2023 Nov 26. J Thromb Haemost. 2024. PMID: 38016518
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.
Ross JE, Zhang BM, Lee K, Mohan S, Branchford BR, Bray P, Dugan SN, Freson K, Heller PG, Kahr WHA, Lambert MP, Luchtman-Jones L, Luo M, Perez Botero J, Rondina MT, Ryan G, Westbury S, Bergmeier W, Di Paola J. Ross JE, et al. Blood Adv. 2021 Jan 26;5(2):414-431. doi: 10.1182/bloodadvances.2020003712. Blood Adv. 2021. PMID: 33496739 Free PMC article.
8,780 results