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A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Szot JO, Cuny H, Martin EM, Sheng DZ, Iyer K, Portelli S, Nguyen V, Gereis JM, Alankarage D, Chitayat D, Chong K, Wentzensen IM, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais LS, Tan TY, Pitt J, Wise CA, Wright H, Andrews ID, Pruniski B, Grebe TA, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown NJ, Hunter MF, Heath O, Lakhani SA, McDermott JH, Ascher DB, Chapman G, Bozon K, Dunwoodie SL. Szot JO, et al. Among authors: ascher db. J Clin Invest. 2024 Feb 15;134(4):e174824. doi: 10.1172/JCI174824. J Clin Invest. 2024. PMID: 38357931 Free PMC article.
Definition and Validation of Prognostic Phenotypes in Moderate Aortic Stenosis.
Sen J, Wahi S, Vollbon W, Prior M, de Sá AGC, Ascher DB, Huynh Q, Marwick TH. Sen J, et al. Among authors: ascher db. JACC Cardiovasc Imaging. 2024 Aug 1:S1936-878X(24)00251-1. doi: 10.1016/j.jcmg.2024.06.013. Online ahead of print. JACC Cardiovasc Imaging. 2024. PMID: 39152961 Free article.
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Ryu J, Barkal S, Yu T, Jankowiak M, Zhou Y, Francoeur M, Phan QV, Li Z, Tognon M, Brown L, Love MI, Lettre G, Ascher DB, Cassa CA, Sherwood RI, Pinello L. Ryu J, et al. Among authors: ascher db. medRxiv [Preprint]. 2023 Sep 10:2023.09.08.23295253. doi: 10.1101/2023.09.08.23295253. medRxiv. 2023. Update in: Nat Genet. 2024 May;56(5):925-937. doi: 10.1038/s41588-024-01726-6 PMID: 37732177 Free PMC article. Updated. Preprint.
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges.
Turina P, Dal Cortivo G, Enriquez Sandoval CA, Alexov E, Ascher DB, Babbi G, Bakolitsa C, Casadio R, Fariselli P, Folkman L, Kamandula A, Katsonis P, Li D, Lichtarge O, Martelli PL, Panday SK, Pires DEV, Portelli S, Pucci F, Rodrigues CHM, Rooman M, Savojardo C, Schwersensky M, Shen Y, Strokach AV, Sun Y, Woo J, Radivojac P, Brenner SE, Dell'Orco D, Capriotti E. Turina P, et al. Among authors: ascher db. Hum Genet. 2024 Dec 23. doi: 10.1007/s00439-024-02720-y. Online ahead of print. Hum Genet. 2024. PMID: 39714488
192 results