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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Shao DD, Straussberg R, Ahmed H, Khan A, Tian S, Hill RS, Smith RS, Majmundar AJ, Ameziane N, Neil JE, Yang E, Al Tenaiji A, Jamuar SS, Schlaeger TM, Al-Saffar M, Hovel I, Al-Shamsi A, Basel-Salmon L, Amir AZ, Rento LM, Lim JY, Ganesan I, Shril S, Evrony G, Barkovich AJ, Bauer P, Hildebrandt F, Dong M, Borck G, Beetz C, Al-Gazali L, Eyaid W, Walsh CA. Shao DD, et al. Among authors: hovel i. Genet Med. 2021 Jun;23(6):1158-1162. doi: 10.1038/s41436-021-01097-x. Epub 2021 Feb 2. Genet Med. 2021. PMID: 33531666 Free PMC article.
Analysis of 4C-seq data: A comparison of methods.
Zisis D, Krajewski P, Stam M, Weber B, Hövel I. Zisis D, et al. Among authors: hovel i. J Bioinform Comput Biol. 2020 Feb;18(1):2050001. doi: 10.1142/S0219720020500018. J Bioinform Comput Biol. 2020. PMID: 32336253
Cis-acting determinants of paramutation.
Hövel I, Pearson NA, Stam M. Hövel I, et al. Semin Cell Dev Biol. 2015 Aug;44:22-32. doi: 10.1016/j.semcdb.2015.08.012. Epub 2015 Aug 29. Semin Cell Dev Biol. 2015. PMID: 26321497 Review.
3C Technologies in plants.
Hövel I, Louwers M, Stam M. Hövel I, et al. Methods. 2012 Nov;58(3):204-11. doi: 10.1016/j.ymeth.2012.06.010. Epub 2012 Jun 19. Methods. 2012. PMID: 22728034