15 citations,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
118 citations,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
29 citations,
January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
17 citations,
December 2020 in “Journal of Genetic Counseling” Genetic counselors should be culturally skilled and aware of transgender patients' unique health risks and needs.
12 citations,
January 2016 in “Endocrinology, diabetes & metabolism case reports” Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.