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Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate.
Chai Y, Lee SSY, Shillington A, Du X, Fok CKM, Yeung KC, Siu GKY, Yuan S, Zheng Z, Tsang HWS, Gu S, Chen Y, Ye T, Ip JPK. Chai Y, et al. Among authors: shillington a. IBRO Neurosci Rep. 2023 Sep 22;15:218-224. doi: 10.1016/j.ibneur.2023.09.007. eCollection 2023 Dec. IBRO Neurosci Rep. 2023. PMID: 37822516 Free PMC article.
Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program.
Yang E, Kruger E, Yin D, Mace K, Tierney M, Liao N, Cibelli E, Drozd D, Ross N, Deering KL, Herout P, Harshaw Q, Shillington A, Thomas N, Marsden D, Kritzer A, Vockley J. Yang E, et al. Among authors: shillington a. Mol Genet Metab. 2024 May;142(1):108350. doi: 10.1016/j.ymgme.2024.108350. Epub 2024 Feb 23. Mol Genet Metab. 2024. PMID: 38458123 Free article.
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Sewani S, Azamian MS, Mendelsohn BA, Mau-Them FT, Réda M, Nambot S, Isidor B, van der Smagt JJ, Shen JJ, Shillington A, White L, Elloumi HZ, Baker PR 2nd, Svihovec S, Brown K, Koopman-Keemink Y, Hoffer MJV, Lakeman IMM, Brischoux-Boucher E, Kinali M, Zhao X, Lalani SR, Scott DA. Sewani S, et al. Among authors: shillington a. Am J Med Genet A. 2024 Mar;194(3):e63445. doi: 10.1002/ajmg.a.63445. Epub 2023 Oct 23. Am J Med Genet A. 2024. PMID: 37872713
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal Ö, Hartwich D, Holthöfer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Jamra RA, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cuscó I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Galindo MK, Ropers FG, Nibbeling EAR, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G. Bosch E, et al. Among authors: shillington a. Genet Med. 2023 Nov;25(11):100950. doi: 10.1016/j.gim.2023.100950. Epub 2023 Aug 5. Genet Med. 2023. PMID: 37551667 Free article.
111 results