| Detection and localization of surgically resectable cancers with a multi-analyte blood test JD Cohen, L Li, Y Wang, C Thoburn, B Afsari, L Danilova, C Douville, ... Science 359 (6378), 926-930, 2018 | 2334 | 2018 |
| Identifying Mendelian disease genes with the variant effect scoring tool H Carter, C Douville, PD Stenson, DN Cooper, R Karchin BMC genomics 14, 1-16, 2013 | 518 | 2013 |
| A combination of molecular markers and clinical features improve the classification of pancreatic cysts S Springer, Y Wang, M Dal Molin, DL Masica, Y Jiao, I Kinde, A Blackford, ... Gastroenterology 149 (6), 1501-1510, 2015 | 440 | 2015 |
| Feasibility of blood testing combined with PET-CT to screen for cancer and guide intervention AM Lennon, AH Buchanan, I Kinde, A Warren, A Honushefsky, AT Cohain, ... Science 369 (6499), eabb9601, 2020 | 435 | 2020 |
| Whole genome sequencing defines the genetic heterogeneity of familial pancreatic cancer NJ Roberts, AL Norris, GM Petersen, ML Bondy, R Brand, S Gallinger, ... Cancer discovery 6 (2), 166-175, 2016 | 341 | 2016 |
| Mutational signature of aristolochic acid exposure as revealed by whole-exome sequencing ML Hoang, CH Chen, VS Sidorenko, J He, KG Dickman, BH Yun, ... Science translational medicine 5 (197), 197ra102-197ra102, 2013 | 285 | 2013 |
| Evaluation of liquid from the Papanicolaou test and other liquid biopsies for the detection of endometrial and ovarian cancers Y Wang, L Li, C Douville, JD Cohen, TT Yen, I Kinde, K Sundfelt, SK Kjær, ... Science translational medicine 10 (433), eaap8793, 2018 | 211 | 2018 |
| Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy SU Springer, CH Chen, MDC Rodriguez Pena, L Li, C Douville, Y Wang, ... Elife 7, e32143, 2018 | 156 | 2018 |
| CRAVAT: cancer-related analysis of variants toolkit C Douville, H Carter, R Kim, N Niknafs, M Diekhans, PD Stenson, ... Bioinformatics 29 (5), 647-648, 2013 | 144 | 2013 |
| A multimodality test to guide the management of patients with a pancreatic cyst S Springer, DL Masica, M Dal Molin, C Douville, CJ Thoburn, B Afsari, L Li, ... Science translational medicine 11 (501), eaav4772, 2019 | 138 | 2019 |
| Assessing the pathogenicity of insertion and deletion variants with the variant effect scoring tool (VEST‐Indel) C Douville, DL Masica, PD Stenson, DN Cooper, DM Gygax, R Kim, ... Human mutation 37 (1), 28-35, 2016 | 130 | 2016 |
| Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions N Sharma, PR Sosnay, AS Ramalho, C Douville, A Franca, LB Gottschalk, ... Human mutation 35 (10), 1249-1259, 2014 | 66 | 2014 |
| CRAVAT 4: cancer-related analysis of variants toolkit DL Masica, C Douville, C Tokheim, R Bhattacharya, RG Kim, K Moad, ... Cancer research 77 (21), e35-e38, 2017 | 60 | 2017 |
| Assessing aneuploidy with repetitive element sequencing C Douville, JD Cohen, J Ptak, M Popoli, J Schaefer, N Silliman, L Dobbyn, ... Proceedings of the National Academy of Sciences 117 (9), 4858-4863, 2020 | 59 | 2020 |
| Methods and materials for assessing and treating cancer B Vogelstein, KW Kinzler, J Cohen, N Papadopoulos, AM Lennon, ... US Patent App. 16/250,703, 2019 | 59 | 2019 |
| Cleaved NOTCH1 expression pattern in head and neck squamous cell carcinoma is associated with NOTCH1 mutation, HPV status, and high-risk features EM Rettig, CH Chung, JA Bishop, JD Howard, R Sharma, RJ Li, ... Cancer prevention research 8 (4), 287-295, 2015 | 56 | 2015 |
| Detection of aneuploidy in patients with cancer through amplification of long interspersed nucleotide elements (LINEs) C Douville, S Springer, I Kinde, JD Cohen, RH Hruban, AM Lennon, ... Proceedings of the National Academy of Sciences 115 (8), 1871-1876, 2018 | 55 | 2018 |
| Detection of low-frequency DNA variants by targeted sequencing of the Watson and Crick strands JD Cohen, C Douville, JC Dudley, BJ Mog, M Popoli, J Ptak, L Dobbyn, ... Nature biotechnology 39 (10), 1220-1227, 2021 | 49 | 2021 |
| Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns TN Turner, C Douville, D Kim, PD Stenson, DN Cooper, A Chakravarti, ... Human molecular genetics 24 (21), 5995-6002, 2015 | 44 | 2015 |
| Pembrolizumab for patients with leptomeningeal metastasis from solid tumors: efficacy, safety, and cerebrospinal fluid biomarkers J Naidoo, KC Schreck, W Fu, C Hu, A Carvajal-Gonzalez, RM Connolly, ... Journal for immunotherapy of cancer 9 (8), 2021 | 43 | 2021 |
Rachel KarchinProfessor of Biomedical Engineering, Oncology and Computer Science, Johns Hopkins UniversityVerified email at jhu.edu
