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SYT1-associated neurodevelopmental disorder: a case series.
Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, Owen D, Turner BJ, Boyd SG, Rossi M, Al-Raqad M, Elpeleg O, Peck D, Mancini GMS, Wilke M, Zollino M, Marangi G, Weigand H, Borggraefe I, Haack T, Stark Z, Sadedin S; Broad Center for Mendelian Genomics; Tan TY, Jiang Y, Gibbs RA, Ellingwood S, Amaral M, Kelley W, Kurian MA, Cousin MA, Raymond FL. Baker K, et al. Among authors: scott dj. Brain. 2018 Sep 1;141(9):2576-2591. doi: 10.1093/brain/awy209. Brain. 2018. PMID: 30107533 Free PMC article.
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Melland H, Bumbak F, Kolesnik-Taylor A, Ng-Cordell E, John A, Constantinou P, Joss S, Larsen M, Fagerberg C, Laulund LW, Thies J, Emslie F, Willemsen M, Kleefstra T, Pfundt R, Barrick R, Chang R, Loong L, Alfadhel M, van der Smagt J, Nizon M, Kurian MA, Scott DJ, Ziarek JJ, Gordon SL, Baker K. Melland H, et al. Among authors: scott dj. Genet Med. 2022 Apr;24(4):880-893. doi: 10.1016/j.gim.2021.12.002. Epub 2022 Jan 29. Genet Med. 2022. PMID: 35101335 Free PMC article.
Conformational Changes in Tyrosine 11 of Neurotensin Are Required to Activate the Neurotensin Receptor 1.
Bumbak F, Thomas T, Noonan-Williams BJ, Vaid TM, Yan F, Whitehead AR, Bruell S, Kocan M, Tan X, Johnson MA, Bathgate RAD, Chalmers DK, Gooley PR, Scott DJ. Bumbak F, et al. Among authors: scott dj. ACS Pharmacol Transl Sci. 2020 Apr 29;3(4):690-705. doi: 10.1021/acsptsci.0c00026. eCollection 2020 Aug 14. ACS Pharmacol Transl Sci. 2020. PMID: 32832871 Free PMC article.
727 results