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A missense variant effect map for the human tumor-suppressor protein CHK2.
Gebbia M, Zimmerman D, Jiang R, Nguyen M, Weile J, Li R, Gavac M, Kishore N, Sun S, Boonen RA, Hamilton R, Dines JN, Wahl A, Reuter J, Johnson B, Fowler DM, Couch FJ, van Attikum H, Roth FP. Gebbia M, et al. Among authors: roth fp. Am J Hum Genet. 2024 Dec 5;111(12):2675-2692. doi: 10.1016/j.ajhg.2024.10.013. Am J Hum Genet. 2024. PMID: 39642869 Free article.
Understanding genetic variants in context.
Sinnott-Armstrong N, Fields S, Roth F, Starita LM, Trapnell C, Villen J, Fowler DM, Queitsch C. Sinnott-Armstrong N, et al. Among authors: roth f. Elife. 2024 Dec 3;13:e88231. doi: 10.7554/eLife.88231. Elife. 2024. PMID: 39625477 Free PMC article.
A comprehensive two-hybrid analysis to explore the Legionella pneumophila effector-effector interactome.
Mount HO, Urbanus ML, Sheykhkarimli D, Coté AG, Laval F, Coppin G, Kishore N, Li R, Spirohn-Fitzgerald K, Petersen MO, Knapp JJ, Kim D-K, Twizere J-C, Calderwood MA, Vidal M, Roth FP, Ensminger AW. Mount HO, et al. Among authors: roth fp. mSystems. 2024 Nov 11:e0100424. doi: 10.1128/msystems.01004-24. Online ahead of print. mSystems. 2024. PMID: 39526800 Free article.
ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.
Almontashiri NAM, Alharby E, Saleh M, Abu-Farha M, Alasmari A, Gebbia M, Hiesl C, Peake RWA, Amr SS, Boles E, Roth FP, Abubaker J. Almontashiri NAM, et al. Among authors: roth fp. Clin Genet. 2024 Oct 14. doi: 10.1111/cge.14632. Online ahead of print. Clin Genet. 2024. PMID: 39401966
Pervasive mislocalization of pathogenic coding variants underlying human disorders.
Lacoste J, Haghighi M, Haider S, Reno C, Lin ZY, Segal D, Qian WW, Xiong X, Teelucksingh T, Miglietta E, Shafqat-Abbasi H, Ryder PV, Senft R, Cimini BA, Murray RR, Nyirakanani C, Hao T, McClain GG, Roth FP, Calderwood MA, Hill DE, Vidal M, Yi SS, Sahni N, Peng J, Gingras AC, Singh S, Carpenter AE, Taipale M. Lacoste J, et al. Among authors: roth fp. Cell. 2024 Nov 14;187(23):6725-6741.e13. doi: 10.1016/j.cell.2024.09.003. Epub 2024 Sep 30. Cell. 2024. PMID: 39353438
Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ, Ng CA, Aizawa T, Sala L, Bains S, Winbo A, Ullah R, Shen Q, Tan CY, Kozek K, Vanags LR, Mitchell DW, Shen A, Wada Y, Kashiwa A, Crotti L, Dagradi F, Musu G, Spazzolini C, Neves R, Bos JM, Giudicessi JR, Bledsoe X, Gamazon ER, Lancaster MC, Glazer AM, Knollmann BC, Roden DM, Weile J, Roth F, Salem JE, Earle N, Stiles R, Agee T, Johnson CN, Horie M, Skinner JR, Ackerman MJ, Schwartz PJ, Ohno S, Vandenberg JI, Kroncke BM. O'Neill MJ, et al. Among authors: roth f. Circulation. 2024 Dec 3;150(23):1869-1881. doi: 10.1161/CIRCULATIONAHA.124.069828. Epub 2024 Sep 24. Circulation. 2024. PMID: 39315434
776 results