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GREGoR: Accelerating Genomics for Rare Diseases.
Dawood M, Heavner B, Wheeler MM, Ungar RA, LoTempio J, Wiel L, Berger S, Bernstein JA, Chong JX, Délot EC, Eichler EE, Gibbs RA, Lupski JR, Shojaie A, Talkowski ME, Wagner AH, Wei CL, Wellington C, Wheeler MT, Members GP, Carvalho CMB, Gifford CA, May S, Miller DE, Rehm HL, Sedlazeck FJ, Vilain E, O'Donnell-Luria A, Posey JE, Chadwick LH, Bamshad MJ, Montgomery SB, Diseases GRTETGOR, Consortium. Dawood M, et al. Among authors: wagner ah. ArXiv [Preprint]. 2024 Dec 18:arXiv:2412.14338v1. ArXiv. 2024. PMID: 39764392 Free PMC article. Preprint.
Mapping MAVE data for use in human genomics applications.
Arbesfeld JA, Da EY, Stevenson JS, Kuzma K, Paul A, Farris T, Capodanno BJ, Grindstaff SB, Riehle K, Saraiva-Agostinho N, Safer JF, Milosavljevic A, Foreman J, Firth HV, Hunt SE, Iqbal S, Cline MS, Rubin AF, Wagner AH. Arbesfeld JA, et al. Among authors: wagner ah. bioRxiv [Preprint]. 2024 Jun 30:2023.06.20.545702. doi: 10.1101/2023.06.20.545702. bioRxiv. 2024. PMID: 38979347 Free PMC article. Preprint.
Minimum information and guidelines for reporting a multiplexed assay of variant effect.
Claussnitzer M, Parikh VN, Wagner AH, Arbesfeld JA, Bult CJ, Firth HV, Muffley LA, Nguyen Ba AN, Riehle K, Roth FP, Tabet D, Bolognesi B, Glazer AM, Rubin AF. Claussnitzer M, et al. Among authors: wagner ah. Genome Biol. 2024 Apr 19;25(1):100. doi: 10.1186/s13059-024-03223-9. Genome Biol. 2024. PMID: 38641812 Free PMC article.
Regnase-1 overexpression as a therapeutic approach of Marfan syndrome.
Noormalal M, Schmiedel N, Bozoglu T, Matzen A, Hille S, Basha DI, Vijaya Shetty PM, Wolf A, Zaradzki M, Arif R, Pühler T, Lutter G, Wagner AH, Kupatt C, Frank D, Frey N, Remes A, Müller OJ. Noormalal M, et al. Among authors: wagner ah. Mol Ther Methods Clin Dev. 2023 Dec 1;32(1):101163. doi: 10.1016/j.omtm.2023.101163. eCollection 2024 Mar 14. Mol Ther Methods Clin Dev. 2023. PMID: 38178915 Free PMC article.
Normalization of drug and therapeutic concepts with Thera-Py.
Cannon M, Stevenson J, Kuzma K, Kiwala S, Warner JL, Griffith OL, Griffith M, Wagner AH. Cannon M, et al. Among authors: wagner ah. JAMIA Open. 2023 Nov 8;6(4):ooad093. doi: 10.1093/jamiaopen/ooad093. eCollection 2023 Dec. JAMIA Open. 2023. PMID: 37954974 Free PMC article.
127 results