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Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Roberts AM, DiStefano MT, Riggs ER, Josephs KS, Alkuraya FS, Amberger J, Amin M, Berg JS, Cunningham F, Eilbeck K, Firth HV, Foreman J, Hamosh A, Hay E, Leigh S, Martin CL, McDonagh EM, Perrett D, Ramos EM, Robinson PN, Rath A, Sant DW, Stark Z, Whiffin N, Rehm HL, Ware JS. Roberts AM, et al. Among authors: sant dw. Genet Med. 2024 Feb;26(2):101029. doi: 10.1016/j.gim.2023.101029. Epub 2023 Nov 17. Genet Med. 2024. PMID: 37982373 Free PMC article.
Sequence Ontology terminology for gene regulation.
Sant DW, Sinclair M, Mungall CJ, Schulz S, Zerbino D, Lovering RC, Logie C, Eilbeck K. Sant DW, et al. Biochim Biophys Acta Gene Regul Mech. 2021 Oct;1864(10):194745. doi: 10.1016/j.bbagrm.2021.194745. Epub 2021 Aug 11. Biochim Biophys Acta Gene Regul Mech. 2021. PMID: 34389511
Vitamin C sensitizes triple negative breast cancer to PI3K inhibition therapy.
Mustafi S, Camarena V, Qureshi R, Sant DW, Wilkes Z, Bilbao D, Slingerland J, Kesmodel SB, Wang G. Mustafi S, et al. Among authors: sant dw. Theranostics. 2021 Jan 20;11(8):3552-3564. doi: 10.7150/thno.53225. eCollection 2021. Theranostics. 2021. PMID: 33664847 Free PMC article.
Oscillatory cAMP signaling rapidly alters H3K4 methylation.
Huff TC, Camarena V, Sant DW, Wilkes Z, Van Booven D, Aron AT, Muir RK, Renslo AR, Chang CJ, Monje PV, Wang G. Huff TC, et al. Among authors: sant dw. Life Sci Alliance. 2019 Dec 27;3(1):e201900529. doi: 10.26508/lsa.201900529. Print 2020 Jan. Life Sci Alliance. 2019. PMID: 31882444 Free PMC article.
22 results