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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: rubin af. medRxiv [Preprint]. 2024 Dec 6:2024.12.04.24318523. doi: 10.1101/2024.12.04.24318523. medRxiv. 2024. PMID: 39677445 Free PMC article. Preprint.
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: rubin af. Genome Med. 2024 Dec 3;16(1):143. doi: 10.1186/s13073-024-01392-7. Genome Med. 2024. PMID: 39627863 Free PMC article.
Proinsulin C-peptide is a major source of HLA-DQ8 restricted hybrid insulin peptides recognized by human islet-infiltrating CD4+ T cells.
Bhattacharjee P, Pakusch M, Lacorcia M, Tresoldi E, Rubin AF, Foster A, King L, Chiu CY, Kay TWH, Karas JA, Cameron FJ, Mannering SI. Bhattacharjee P, et al. Among authors: rubin af. PNAS Nexus. 2024 Nov 1;3(11):pgae491. doi: 10.1093/pnasnexus/pgae491. eCollection 2024 Nov. PNAS Nexus. 2024. PMID: 39554513 Free PMC article.
2,161 results