15 April 2025
Dr. Himanshu Goel Staff Specialist, Hunter Genetics
Haghshenas, Sadegheh et al. Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations. American journal of human genetics vol. 111,8 (2024): 1643-1655. doi:10.1016/j.ajhg.2024.07.005
van der Smagt, Jasper J et al. Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey. European journal of medical genetics vol. 69 (2024): 104949. doi:10.1016/j.ejmg.2024.104949
Geysens M, Huremagic B, Souche E, Breckpot J, Devriendt K, Peeters H, et al. Nanopore sequencing-based episignature detection. medRxiv. 2024:2024.04.19.24305959. This article is a preprint and has not been peer-reviewed. It reports new medical research that has yet to be evaluated and so should not be used to guide clinical practice.
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