| M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity KA Jagadeesh, AM Wenger, MJ Berger, H Guturu, PD Stenson, ... Nature genetics 48 (12), 1581, 2016 | 687 | 2016 |
| Intra-and Inter-cellular Rewiring of the Human Colon during Ulcerative Colitis CS Smillie, M Biton, J Ordovas-Montanes, KM Sullivan, G Burgin, ... Cell 178 (3), 714-730. e22, 2019 | 662 | 2019 |
| Single-cell meta-analysis of SARS-CoV-2 entry genes across tissues and demographics C Muus, MD Luecken, G Eraslan, L Sikkema, A Waghray, G Heimberg, ... Nature medicine, 1-14, 2021 | 468* | 2021 |
| COVID-19 tissue atlases reveal SARS-CoV-2 pathology and cellular targets TM Delorey, CGK Ziegler, G Heimberg, R Normand, Y Yang, ... Nature, 1-8, 2021 | 438 | 2021 |
| Deriving genomic diagnoses without revealing patient genomes KA Jagadeesh, DJ Wu, JA Birgmeier, D Boneh, G Bejerano Science 357 (6352), 692-695, 2017 | 141 | 2017 |
| 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 | 124 | 2019 |
| Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1β inhibition Y Gernez, AA de Jesus, H Alsaleem, C Macaubas, A Roy, D Lovell, ... Journal of Allergy and Clinical Immunology 144 (4), 1122, 2019 | 76 | 2019 |
| AMELIE accelerates Mendelian patient diagnosis directly from the primary literature J Birgmeier, M Haeussler, CA Deisseroth, KA Jagadeesh, AJ Ratner, ... BioRxiv, 171322, 2017 | 60* | 2017 |
| S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing KA Jagadeesh, JM Paggi, SY James, PD Stenson, DN Cooper, ... Nature genetics 51 (4), 755-763, 2019 | 57 | 2019 |
| Single-nucleus and spatial transcriptome profiling of pancreatic cancer identifies multicellular dynamics associated with neoadjuvant treatment WL Hwang, KA Jagadeesh, JA Guo, HI Hoffman, P Yadollahpour, ... Nature Genetics 54 (8), 1178-1191, 2022 | 46 | 2022 |
| Convolutional neural networks for fashion classification and object detection B Lao, K Jagadeesh CCCV 2015: Computer Vision, 120-129, 2015 | 43 | 2015 |
| 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, 2018 | 39 | 2018 |
| Single-nucleus and spatial transcriptomics of archival pancreatic cancer reveals multi-compartment reprogramming after neoadjuvant treatment WL Hwang, KA Jagadeesh, JA Guo, HI Hoffman, P Yadollahpour, ... bioRxiv, 2020 | 35 | 2020 |
| Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity S Gazal, O Weissbrod, F Hormozdiari, KK Dey, J Nasser, KA Jagadeesh, ... Nature Genetics, 1-10, 2022 | 33 | 2022 |
| 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 | 26 | 2019 |
| Identifying disease-critical cell types and cellular processes across the human body by integration of single-cell profiles and human genetics KA Jagadeesh, KK Dey, DT Montoro, S Gazal, JM Engreitz, RJ Xavier, ... bioRxiv, 2021 | 24 | 2021 |
| Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics KA Jagadeesh, KK Dey, DT Montoro, R Mohan, S Gazal, JM Engreitz, ... Nature Genetics 54 (10), 1479-1492, 2022 | 23 | 2022 |
| 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 22 (2), 362-370, 2020 | 19 | 2020 |
| 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 | 17 | 2018 |
| 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 26 (12), 1810-1818, 2018 | 16 | 2018 |
Johannes BirgmeierDepartment of Computer Science, Stanford UniversityGeverifieerd e-mailadres voor cs.stanford.edu
