Gene–disease relationship evidence: A clinical perspective focusing on ultra‐rare diseases
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24367
Abstract: The ACMG framework for variant interpretation is well‐established and widely used. Although formal guidelines have been published on the establishment of the gene–disease relationships as well, these are not nearly as widely acknowledged or utilized,… read more here.
Keywords: disease relationship; gene disease; relationship evidence; disease relationships ... See more keywords
Circadian rhythm and disease: Relationship, new insights, and future perspectives
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cellular Physiology"
DOI: 10.1002/jcp.30815
Abstract: The circadian system is responsible for internal functions and regulation of the organism according to environmental cues (zeitgebers). Circadian rhythm dysregulation or chronodisruption has been associated with several diseases, from mental to autoimmune diseases, and… read more here.
Keywords: relationship; disease relationship; rhythm disease; relationship new ... See more keywords