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Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.
Belnap N, Price-Smith A, Ramsey K, Leka K, Abraham A, Lieberman E, Hassett K, Potu S, Rudy N, Smith K, Mikhail FM, Monaghan KG, Hendershot A, Mourmans J, Descartes M, Huentelman MJ, Sills J, Rangasamy S, Narayanan V. Belnap N, et al. Among authors: huentelman mj. Clin Genet. 2023 Nov;104(5):607-609. doi: 10.1111/cge.14408. Epub 2023 Jul 25. Clin Genet. 2023. PMID: 37491870
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Frost FG, Morimoto M, Sharma P, Ruaud L, Belnap N, Calame DG, Uchiyama Y, Matsumoto N, Oud MM, Ferreira EA, Narayanan V, Rangasamy S, Huentelman M, Emrick LT, Sato-Shirai I, Kumada S, Wolf NI, Steinbach PJ, Huang Y; Undiagnosed Diseases Network; Pusey BN, Passemard S, Levy J, Drunat S, Vincent M, Guet A, Agolini E, Novelli A, Digilio MC, Rosenfeld JA, Murphy JL, Lupski JR, Vezina G, Macnamara EF, Adams DR, Acosta MT, Tifft CJ, Gahl WA, Malicdan MCV. Frost FG, et al. Am J Hum Genet. 2023 Apr 6;110(4):663-680. doi: 10.1016/j.ajhg.2023.03.001. Epub 2023 Mar 24. Am J Hum Genet. 2023. PMID: 36965478 Free PMC article.
Dynamic transcriptomic responses to divergent acute exercise stimuli in young adults.
Lavin KM, Graham ZA, McAdam JS, O'Bryan SM, Drummer D, Bell MB, Kelley CJ, Lixandrão ME, Peoples B, Tuggle SC, Seay RS, Van Keuren-Jensen K, Huentelman MJ, Pirrotte P, Reiman R, Alsop E, Hutchins E, Antone J, Bonfitto A, Meechoovet B, Palade J, Talboom JS, Sullivan A, Aban I, Peri K, Broderick TJ, Bamman MM. Lavin KM, et al. Among authors: huentelman mj. Physiol Genomics. 2023 Apr 1;55(4):194-212. doi: 10.1152/physiolgenomics.00144.2022. Epub 2023 Mar 20. Physiol Genomics. 2023. PMID: 36939205 Free PMC article. Clinical Trial.
Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel SMS gene variant.
Leung M, Sanchez-Castillo M, Belnap N, Naymik M, Bonfitto A, Sloan J, Hassett K, Jepsen WM, Sankaramoorthy A, Stewart TM, Foley JR, Rangasamy S, Huentelman MJ, Narayanan V, Ramsey K. Leung M, et al. Among authors: huentelman mj. Rare. 2024;2:100017. doi: 10.1016/j.rare.2023.100017. Epub 2023 Dec 13. Rare. 2024. PMID: 38770537 Free PMC article.
221 results