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Year Number of Results
2013 3
2014 2
2015 2
2016 4
2017 3
2019 2
2020 2
2022 1
2023 3
2024 1

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Page 1
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Walker LC, Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison SM, Spurdle AB; ClinGen Sequence Variant Interpretation Working Group. Walker LC, et al. Among authors: cass a. Am J Hum Genet. 2023 Jul 6;110(7):1046-1067. doi: 10.1016/j.ajhg.2023.06.002. Epub 2023 Jun 22. Am J Hum Genet. 2023. PMID: 37352859 Free PMC article.
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC, de la Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison S, Spurdle AB. Walker LC, et al. Among authors: cass a. medRxiv [Preprint]. 2023 Feb 26:2023.02.24.23286431. doi: 10.1101/2023.02.24.23286431. medRxiv. 2023. PMID: 36865205 Free PMC article. Updated. Preprint.
Host immunity contributes to the anti-melanoma activity of BRAF inhibitors.
Knight DA, Ngiow SF, Li M, Parmenter T, Mok S, Cass A, Haynes NM, Kinross K, Yagita H, Koya RC, Graeber TG, Ribas A, McArthur GA, Smyth MJ. Knight DA, et al. Among authors: cass a. J Clin Invest. 2023 Dec 15;133(24):e177489. doi: 10.1172/JCI177489. J Clin Invest. 2023. PMID: 38099495 Free PMC article. No abstract available.
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.
Horton C, Cass A, Conner BR, Hoang L, Zimmermann H, Abualkheir N, Burks D, Qian D, Molparia B, Vuong H, LaDuca H, Grzybowski J, Durda K, Pilarski R, Profato J, Clayback K, Mahoney M, Schroeder C, Torres-Martinez W, Elliott A, Chao EC, Karam R. Horton C, et al. Among authors: cass a. NPJ Genom Med. 2022 Aug 25;7(1):49. doi: 10.1038/s41525-022-00323-y. NPJ Genom Med. 2022. PMID: 36008414 Free PMC article.
Doxycycline alters metabolism and proliferation of human cell lines.
Ahler E, Sullivan WJ, Cass A, Braas D, York AG, Bensinger SJ, Graeber TG, Christofk HR. Ahler E, et al. Among authors: cass a. PLoS One. 2013 May 31;8(5):e64561. doi: 10.1371/journal.pone.0064561. Print 2013. PLoS One. 2013. PMID: 23741339 Free PMC article.
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
Landrith T, Li B, Cass AA, Conner BR, LaDuca H, McKenna DB, Maxwell KN, Domchek S, Morman NA, Heinlen C, Wham D, Koptiuch C, Vagher J, Rivera R, Bunnell A, Patel G, Geurts JL, Depas MM, Gaonkar S, Pirzadeh-Miller S, Krukenberg R, Seidel M, Pilarski R, Farmer M, Pyrtel K, Milliron K, Lee J, Hoodfar E, Nathan D, Ganzak AC, Wu S, Vuong H, Xu D, Arulmoli A, Parra M, Hoang L, Molparia B, Fennessy M, Fox S, Charpentier S, Burdette J, Pesaran T, Profato J, Smith B, Haynes G, Dalton E, Crandall JR, Baxter R, Lu HM, Tippin-Davis B, Elliott A, Chao E, Karam R. Landrith T, et al. Among authors: cass aa. NPJ Precis Oncol. 2020 Feb 24;4:4. doi: 10.1038/s41698-020-0109-y. eCollection 2020. NPJ Precis Oncol. 2020. PMID: 32133419 Free PMC article.
20 results