Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization
Karthik A. Jagadeesh*, Johannes Birgmeier*, Harendra Guturu, Cole Deisseroth, Aaron M. Wenger, Jonathan A. Bernstein, and Gill Bejerano
Genetics in Medicine, 2018

Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome
Johannes Birgmeier*, Edward D Esplin*, Karthik A Jagadeesh*, Harendra Guturu, Aaron M Wenger, Hassan Chaib, Julia A Buckingham, Gill Bejerano, Jonathan A Bernstein
American Journal of Medical Genetics Part A, 2018

An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease
Heidi I Chen*, Karthik A Jagadeesh*, Johannes Birgmeier, Aaron M Wenger, Harendra Guturu, Susan Schelley, Jonathan A Bernstein, Gill Bejerano
European Journal of Human Genetics, 2018

Deriving genomic diagnoses without revealing patient genomes
Karthik A. Jagadeesh*, David J. Wu*, Johannes Birgmeier, Dan Boneh, and Gill Bejerano
Science, 2017 (in the press: Scientific American, Wired)

Counterexample to induction-guided abstraction-refinement (CTIGAR)
Johannes Birgmeier, Aaron R. Bradley, Georg Weissenbacher
International Conference on Computer Aided Verification, 2014

* equal contribution