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Johannes Birgmeier
Johannes Birgmeier
Department of Computer Science, Stanford University
Verified email at cs.stanford.edu - Homepage
Title
Cited by
Cited by
Year
Deriving genomic diagnoses without revealing patient genomes
KA Jagadeesh, DJ Wu, JA Birgmeier, D Boneh, G Bejerano
Science 357 (6352), 692-695, 2017
1352017
Emergent high fatality lung disease in systemic juvenile arthritis
VE Saper, G Chen, GH Deutsch, RP Guillerman, J Birgmeier, ...
Annals of the Rheumatic Diseases 78 (12), 1722-1731, 2019
1102019
Counterexample to induction-guided abstraction-refinement (CTIGAR)
J Birgmeier, AR Bradley, G Weissenbacher
International Conference on Computer Aided Verification, 831-848, 2014
682014
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
CA Deisseroth, J Birgmeier, EE Bodle, JN Kohler, DR Matalon, ...
Genetics in Medicine, 1, 2018
582018
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature
J Birgmeier, M Haeussler, CA Deisseroth, EH Steinberg, KA Jagadeesh, ...
Science translational medicine 12 (544), eaau9113, 2020
372020
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization
KA Jagadeesh, J Birgmeier, H Guturu, CA Deisseroth, AM Wenger, ...
Genetics in Medicine 21 (2), 464-470, 2019
352019
CRISPR/Cas9 Genome Engineering in Engraftable Human Brain-Derived Neural Stem Cells
DP Dever, SG Scharenberg, J Camarena, EJ Kildebeck, JT Clark, ...
iScience 15, 524-535, 2019
232019
AMELIE accelerates Mendelian patient diagnosis directly from the primary literature
J Birgmeier, M Haeussler, CA Deisseroth, KA Jagadeesh, AJ Ratner, ...
bioRxiv, 171322, 2017
212017
Transcription factor expression defines subclasses of developing projection neurons highly similar to single-cell RNA-seq subtypes
WE Heavner, S Ji, JH Notwell, ES Dyer, AM Tseng, J Birgmeier, B Yoo, ...
Proceedings of the National Academy of Sciences 117 (40), 25074-25084, 2020
172020
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature
J Birgmeier, CA Deisseroth, LE Hayward, LMT Galhardo, AP Tierno, ...
Genetics in Medicine, 1-9, 2019
162019
Biallelic loss‐of‐function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome
J Birgmeier, ED Esplin, KA Jagadeesh, H Guturu, AM Wenger, H Chaib, ...
American Journal of Medical Genetics Part A 176 (4), 1030-1036, 2018
152018
Childhood Arthritis and Rheumatology Research Alliance Registry Investigators. Emergent high fatality lung disease in systemic juvenile arthritis
VE Saper, G Chen, GH Deutsch, RP Guillerman, J Birgmeier, ...
Ann Rheum Dis 78 (12), 1722-1731, 2019
142019
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease
HI Chen, KA Jagadeesh, J Birgmeier, AM Wenger, H Guturu, S Schelley, ...
European Journal of Human Genetics, 1, 2018
132018
AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year
J Birgmeier, E Steinberg, EE Bodle, CA Deisseroth, KA Jagadeesh, ...
medRxiv, 2020.12. 29.20248974, 2021
32021
InpherNet accelerates monogenic disease diagnosis using patients’ candidate genes’ neighbors
B Yoo, J Birgmeier, JA Bernstein, G Bejerano
Genetics in Medicine 23 (10), 1984-1992, 2021
12021
P127 Lung disease in systemic JIA: an emerging problem linked with young age and anti-IL-1/IL-6
G Chen, V Saper, G Deutsch, RP Guillerman, K Jagadeesh, G Schulert, ...
Annals of the Rheumatic Diseases 78 (Suppl 1), A57-A57, 2019
12019
Keeping patient phenotypes and genotypes private while seeking disease diagnoses
KA Jagadeesh, DJ Wu, JA Birgmeier, D Boneh, G Bejerano
bioRxiv, 746230, 2019
12019
Using Spectral Clustering to Sample Molecular States and Pathways
SH Ahn, J Birgmeier
12015
Machine Learning-based Acceleration of Monogenic Disease Diagnosis
J Birgmeier
Stanford University, 2019
2019
Differential chromatin accessibility in developing projection neurons is correlated with transcriptional regulation of cell fate
WE Heavner, S Ji, JH Notwell, ES Dyer, AM Tseng, J Birgmeier, B Yoo, ...
bioRxiv, 645572, 2019
2019
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