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Permanent Neonatal diabetes-causing Insulin mutations have dominant negative effects on beta cell identity.
Zhang Y, Sui L, Du Q, Haataja L, Yin Y, Viola R, Xu S, Nielsson CU, Leibel RL, Barbetti F, Arvan P, Egli D. Zhang Y, et al. Among authors: leibel rl. bioRxiv [Preprint]. 2023 Sep 15:2023.09.01.555839. doi: 10.1101/2023.09.01.555839. bioRxiv. 2023. Update in: Mol Metab. 2024 Feb;80:101879. doi: 10.1016/j.molmet.2024.101879. PMID: 37745320 Free PMC article. Updated. Preprint.
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.
Ziegler A, Koval-Burt C, Kay DM, Suchy SF, Begtrup A, Langley KG, Hernan R, Amendola LM, Boyd BM, Bradley J, Brandt T, Cohen LL, Coffey AJ, Devaney JM, Dygulska B, Friedman B, Fuleihan RL, Gyimah A, Hahn S, Hofherr S, Hruska KS, Hu Z, Jeanne M, Jin G, Johnson DA, Kavus H, Leibel RL, Lobritto SJ, McGee S, Milner JD, McWalter K, Monaghan KG, Orange JS, Pimentel Soler N, Quevedo Y, Ratner S, Retterer K, Shah A, Shapiro N, Sicko RJ, Silver ES, Strom S, Torene RI, Williams O, Ustach VD, Wynn J, Taft RJ, Kruszka P, Caggana M, Chung WK. Ziegler A, et al. Among authors: leibel rl. JAMA. 2024 Oct 24:e2419662. doi: 10.1001/jama.2024.19662. Online ahead of print. JAMA. 2024. PMID: 39446378
317 results