| 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 | 238 | 2019 |
| Deriving genomic diagnoses without revealing patient genomes KA Jagadeesh, DJ Wu, JA Birgmeier, D Boneh, G Bejerano Science 357 (6352), 692-695, 2017 | 178 | 2017 |
| 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 | 114 | 2020 |
| 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 | 110 | 2018 |
| Counterexample to induction-guided abstraction-refinement (CTIGAR) J Birgmeier, AR Bradley, G Weissenbacher International Conference on Computer Aided Verification, 831-848, 2014 | 83 | 2014 |
| 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 | 72 | 2019 |
| 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 | 42 | 2019 |
| 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 | 40 | 2020 |
| 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 | 34 | 2019 |
| 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 | 25 | 2018 |
| AMELIE accelerates Mendelian patient diagnosis directly from the primary literature J Birgmeier, M Haeussler, CA Deisseroth, KA Jagadeesh, AJ Ratner, ... bioRxiv, 171322, 2017 | 20 | 2017 |
| 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 | 17 | 2019 |
| 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 | 16 | 2018 |
| 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 | 7 | 2021 |
| 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 | 7 | 2021 |
| 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, A57, 2019 | 1 | 2019 |
| Keeping patient phenotypes and genotypes private while seeking disease diagnoses KA Jagadeesh, DJ Wu, JA Birgmeier, D Boneh, G Bejerano bioRxiv, 746230, 2019 | 1 | 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 | 1 | 2019 |
| Using Spectral Clustering to Sample Molecular States and Pathways SH Ahn, J Birgmeier | 1 | 2015 |
| Machine Learning-based Acceleration of Monogenic Disease Diagnosis J Birgmeier Stanford University, 2019 | | 2019 |
Karthik A. JagadeeshPostdoctoral Associate, Broad InstituteVerified email at cs.stanford.edu
