title: Rare diseases: Genomics, plain and simple.
authors.forename: Trisha
authors.initials: T
authors.lastname: Gura
mesh_terms: D061365:Amish / Q000235:genetics; D003241:Consanguinity; D042241:Early Diagnosis; D005260:Female; D018703:Founder Effect; D023281:Genomics / Q000639:trends; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010414:Pennsylvania; D057285:Precision Medicine / Q000379:methods / Q000639:trends; D035583:Rare Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy