Natasha Strande

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.

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

Sheri D Schully, Katrina A B Goddard, Alan F Scott, 2016, Genetics in Medicine.

ClinGen Allele Registry links information about genetic variants

Aleksandar Milosavljevic, Piotr Pawliczek, Chris Bizon, 2018, Human mutation.

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

Chris Bizon, Jonathan S Berg, Alexandra Arreola, 2018, PloS one.