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Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11).
Dadi H, Jones TA, Merico D, Sharfe N, Ovadia A, Schejter Y, Reid B, Sun M, Vong L, Atkinson A, Lavi S, Pomerantz JL, Roifman CM. Dadi H, et al. Among authors: sun m. J Allergy Clin Immunol. 2018 May;141(5):1818-1830.e2. doi: 10.1016/j.jaci.2017.06.047. Epub 2017 Aug 19. J Allergy Clin Immunol. 2018. PMID: 28826773
ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.
Merico D, Spickett C, O'Hara M, Kakaradov B, Deshwar AG, Fradkin P, Gandhi S, Gao J, Grant S, Kron K, Schmitges FW, Shalev Z, Sun M, Verby M, Cahill M, Dowling JJ, Fransson J, Wienholds E, Frey BJ. Merico D, et al. Among authors: sun m. NPJ Genom Med. 2020 Apr 8;5:16. doi: 10.1038/s41525-020-0123-6. eCollection 2020. NPJ Genom Med. 2020. PMID: 32284880 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33579975
Transcriptome-Wide Off-Target Effects of Steric-Blocking Oligonucleotides.
Holgersen EM, Gandhi S, Zhou Y, Kim J, Vaz B, Bogojeski J, Bugno M, Shalev Z, Cheung-Ong K, Gonçalves J, O'Hara M, Kron K, Verby M, Sun M, Kakaradov B, Delong A, Merico D, Deshwar AG. Holgersen EM, et al. Among authors: sun m. Nucleic Acid Ther. 2021 Dec;31(6):392-403. doi: 10.1089/nat.2020.0921. Epub 2021 Aug 13. Nucleic Acid Ther. 2021. PMID: 34388351 Free PMC article.
14,752 results
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