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Genome-scale mapping of DNA damage suppressors through phenotypic CRISPR-Cas9 screens.
Zhao Y, Tabet D, Rubio Contreras D, Lao L, Kousholt AN, Weile J, Melo H, Hoeg L, Feng S, Coté AG, Lin ZY, Setiaputra D, Jonkers J, Gingras AC, Gómez Herreros F, Roth FP, Durocher D. Zhao Y, et al. Mol Cell. 2023 Aug 3;83(15):2792-2809.e9. doi: 10.1016/j.molcel.2023.06.025. Epub 2023 Jul 20. Mol Cell. 2023. PMID: 37478847 Free PMC article.
Pervasive mislocalization of pathogenic coding variants underlying human disorders.
Lacoste J, Haghighi M, Haider S, Lin ZY, Segal D, Reno C, Qian WW, Xiong X, Shafqat-Abbasi H, Ryder PV, Senft R, Cimini BA, Roth FP, Calderwood M, Hill D, Vidal M, Yi SS, Sahni N, Peng J, Gingras AC, Singh S, Carpenter AE, Taipale M. Lacoste J, et al. bioRxiv [Preprint]. 2023 Sep 5:2023.09.05.556368. doi: 10.1101/2023.09.05.556368. bioRxiv. 2023. Update in: Cell. 2024 Sep 25:S0092-8674(24)01021-3. doi: 10.1016/j.cell.2024.09.003. PMID: 37732209 Free PMC article. Updated. Preprint.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Sheykhkarimli D, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Am J Hum Genet. 2023 Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012. Epub 2023 Sep 19. Am J Hum Genet. 2023. PMID: 37729906 Free PMC article.
A comprehensive map of human glucokinase variant activity.
Gersing S, Cagiada M, Gebbia M, Gjesing AP, Coté AG, Seesankar G, Li R, Tabet D, Weile J, Stein A, Gloyn AL, Hansen T, Roth FP, Lindorff-Larsen K, Hartmann-Petersen R. Gersing S, et al. Genome Biol. 2023 Apr 26;24(1):97. doi: 10.1186/s13059-023-02935-8. Genome Biol. 2023. PMID: 37101203 Free PMC article.
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest.
Floyd BJ, Weile J, Kannankeril PJ, Glazer AM, Reuter CM, MacRae CA, Ashley EA, Roden DM, Roth FP, Parikh VN. Floyd BJ, et al. Circ Genom Precis Med. 2023 Feb;16(1):e003792. doi: 10.1161/CIRCGEN.122.003792. Epub 2023 Jan 30. Circ Genom Precis Med. 2023. PMID: 36716194 Free PMC article. Review. No abstract available.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. bioRxiv [Preprint]. 2023 Feb 6:2023.02.06.527353. doi: 10.1101/2023.02.06.527353. bioRxiv. 2023. Update in: Am J Hum Genet. 2023 Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012. PMID: 36798224 Free PMC article. Updated. Preprint.
15 results