Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.
Human Genomics
Spataro, Rossella R; Kousi, Maria M; Farhan, Sali M K SMK; Willer, Jason R JR; Ross, Jay P JP; Dion, Patrick A PA; Rouleau, Guy A GA; Daly, Mark J MJ; Neale, Benjamin M BM; La Bella, Vincenzo V; Katsanis, Nicholas N
Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.
American Journal Of Human Genetics
Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A