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Publications
Journal Publications
AMELIE accelerates Mendelian patient diagnosis directly from the primary literature
Johannes Birgmeier, Maximilian Haeussler, Cole A. Deisseroth, Karthik A. Jagadeesh, Harendra Guturu, Aaron M. Wenger, Peter D. Stenson, David N. Cooper, Chris Re, Jonathan A. Bernstein and Gill Bejerano
Science Translational Medicine, 2020
S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing
Karthik A. Jagadeesh*, Joseph M. Paggi*, James S. Ye, Peter D. Stenson, David N. Cooper, Jonathan A. Bernstein and Gill Bejerano
Nature Genetics, 2019
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, and Gill Bejerano
European Journal of Human Genetics, 2018
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, Gill Bejerano and Jonathan A. Bernstein
American Journal of Medical 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)
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Karthik A. Jagadeesh*, Aaron M. Wenger*, Mark Berger, Harendra Guturu, Peter D. Stenson, David N. Cooper, Jonathan A. Bernstein and Gill Bejerano
Nature Genetics, 2016
* equal contribution
Preprints
Keeping patient phenotypes and genotypes private while seeking disease diagnoses
Karthik A. Jagadeesh*, David J. Wu*, Johannes A. Birgmeier, Dan Boneh, Gill Bejerano
bioRxiv, 2019
* equal contribution
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