Personalised penetrance estimation for C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia.
Andrew G L DouglasAlexander Guy ThompsonMatthew C KiernanKevin TalbotPublished in: BMJ neurology open (2024)
expansion carriers. Calculating family-specific penetrance can aid genetic counselling by allowing at-risk relatives a more accurate understanding of their individual risk.