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Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.
Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M. Muto V, et al. Among authors: jeffries ar. Neurology. 2018 Jul 24;91(4):e319-e330. doi: 10.1212/WNL.0000000000005869. Epub 2018 Jun 29. Neurology. 2018. PMID: 29959261 Free PMC article.
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Jeffries AR, Maroofian R, Salter CG, Chioza BA, Cross HE, Patton MA, Dempster E, Temple IK, Mackay DJG, Rezwan FI, Aksglaede L, Baralle D, Dabir T, Hunter MF, Kamath A, Kumar A, Newbury-Ecob R, Selicorni A, Springer A, Van Maldergem L, Varghese V, Yachelevich N, Tatton-Brown K, Mill J, Crosby AH, Baple EL. Jeffries AR, et al. Genome Res. 2019 Jul;29(7):1057-1066. doi: 10.1101/gr.243584.118. Epub 2019 Jun 3. Genome Res. 2019. PMID: 31160375 Free PMC article.
Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion.
Tovy A, Reyes JM, Gundry MC, Brunetti L, Lee-Six H, Petljak M, Park HJ, Guzman AG, Rosas C, Jeffries AR, Baple E, Mill J, Crosby AH, Sency V, Xin B, Machado HE, Castillo D, Weitzel JN, Li W, Stratton MR, Campbell PJ, Wang H, Sanders MA, Goodell MA. Tovy A, et al. Among authors: jeffries ar. Cell Stem Cell. 2020 Aug 6;27(2):326-335.e4. doi: 10.1016/j.stem.2020.06.018. Epub 2020 Jul 15. Cell Stem Cell. 2020. PMID: 32673568 Free PMC article.
Novel epigenetic clock for fetal brain development predicts prenatal age for cellular stem cell models and derived neurons.
Steg LC, Shireby GL, Imm J, Davies JP, Franklin A, Flynn R, Namboori SC, Bhinge A, Jeffries AR, Burrage J, Neilson GWA, Walker EM, Perfect LW, Price J, McAlonan G, Srivastava DP, Bray NJ, Cope EL, Jones KM, Allen ND, Pishva E, Dempster EL, Lunnon K, Mill J, Hannon E. Steg LC, et al. Among authors: jeffries ar. Mol Brain. 2021 Jun 26;14(1):98. doi: 10.1186/s13041-021-00810-w. Mol Brain. 2021. PMID: 34174924 Free PMC article.
67 results