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Consultation informs strategies to improve functional evidence use in variant classification.
Villani RM, Terrill B, Tudini E, McKenzie ME, Cliffe CC, Hahn CN, Lundie B, Mattiske T, Matotek E, McEwen AE, Nickerson SL, Breen J, Fowler DM, Christodoulou J, Starita L, Rubin AF, Spurdle AB. Villani RM, et al. Among authors: fowler dm. medRxiv [Preprint]. 2024 Dec 6:2024.12.04.24318523. doi: 10.1101/2024.12.04.24318523. medRxiv. 2024. PMID: 39677445 Free PMC article. Preprint.
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: fowler dm. 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 PMC article.
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M, Fayer S, Pendyala S, Post M, Kalra D, Patterson K, Venner E, Muffley LA, Fowler DM, Rubin AF, Posey JE, Plon SE, Lupski JR, Gibbs RA, Starita LM, Robles-Espinoza CD, Coyote-Maestas W, Gallego Romero I. Dawood M, et al. Among authors: fowler dm. Genome Med. 2024 Dec 3;16(1):143. doi: 10.1186/s13073-024-01392-7. Genome Med. 2024. PMID: 39627863 Free PMC article.
1,126 results