Priya Kishnani

Combination of exome sequencing and immune testing confirms Aicardi–Goutières syndrome type 5 in a challenging pediatric neurology case

Jonathan S. Berg, James P. Evans, Karen E. Weck, 2018, Cold Spring Harbor molecular case studies.

Diagnostic challenges for Pompe disease: An under-recognized cause of floppy baby syndrome

Barry Byrne, B. Byrne, R. Howell, 2006, Genetics in Medicine.