Burden of rare variants in ALS genes influences survival in familial and sporadic ALS
Sign Up to like & getrecommendations! Published in 2017 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2017.06.007
Abstract: Genetic variants are implicated in the development of amyotrophic lateral sclerosis (ALS), but it is unclear whether the burden of rare variants in ALS genes has an effect on survival. We performed whole genome sequencing… read more here.
Keywords: als genes; burden rare; variants als; sporadic als ... See more keywords
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.16161
Abstract: Autism spectrum disorder (ASD) is characterized by a complex polygenic background, but with the unique feature of a subset of cases (~15%‐30%) presenting a rare large‐effect variant. However, clinical interpretation in these cases is often… read more here.
Keywords: penetrance; spectrum disorder; burden rare; rare variants ... See more keywords