R. Crimian

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Michael P. Snyder, A. Need, D. Goldstein, 2014, Genetics in Medicine.

Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy

S. Petrovski, V. Shashi, R. Crimian, 2015, Clinical genetics.

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition

K. M. McSweeney, D. Goldstein, R. Dhindsa, 2015, Cold Spring Harbor molecular case studies.

Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing

D. Goldstein, S. Petrovski, V. Shashi, 2015, Cold Spring Harbor molecular case studies.

Mutations in NGLY 1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation ( ERAD ) Pathway

Michael P. Snyder, A. Need, D. Goldstein, 2014 .