Discovery of over 200 new and expanded genetic conditions using GeneMatcher
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24351
Abstract: GeneMatcher is a platform through which various stakeholders can connect with others interested in candidate gene findings. GeneDx, a diagnostic laboratory, has utilized GeneMatcher over the last seven years to successfully facilitate connections between clinicians… read more here.
Keywords: expanded genetic; 200 new; new expanded; genematcher ... See more keywords
Gaucher Disease: New Expanded Classification Emphasizing Neurological Features
Sign Up to like & getrecommendations! Published in 2019 at "Iranian Journal of Child Neurology"
DOI: 10.22037/ijcn.v13i1.21757
Abstract: Gaucher disease (GD) is a rare inherited metabolic disorder and the most common lysosomal storage disorder, caused by a deficiency in glucocerebrosidase enzyme activity. It has been classified according to the neurological manifestations into three… read more here.
Keywords: classification emphasizing; disease new; expanded classification; new expanded ... See more keywords