Development of a clinical polygenic risk score assay and reporting workflow L Hao, P Kraft, GF Berriz, ED Hynes, C Koch, P Korategere V Kumar, ... Nature medicine 28 (5), 1006-1013, 2022 | 92 | 2022 |
Association of rare pathogenic DNA variants for familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, and lynch syndrome with disease risk in adults … AP Patel, M Wang, AC Fahed, H Mason-Suares, D Brockman, R Pelletier, ... JAMA network open 3 (4), e203959-e203959, 2020 | 84 | 2020 |
Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization CLB Zawatsky, N Shah, K Machini, E Perez, KD Christensen, H Zouk, ... The American Journal of Human Genetics 108 (12), 2224-2237, 2021 | 42 | 2021 |
Automated typing of red blood cell and platelet antigens from whole exome sequences WJ Lane, S Vege, HH Mah, C Lomas‐Francis, M Aguad, ... Transfusion 59 (10), 3253-3263, 2019 | 38 | 2019 |
Inference and evolutionary analysis of genome-scale regulatory networks in large phylogenies C Koch, J Konieczka, T Delorey, A Lyons, A Socha, K Davis, SA Knaack, ... Cell systems 4 (5), 543-558. e8, 2017 | 35 | 2017 |
Evolution of regulatory networks associated with traits under selection in cichlids TK Mehta, C Koch, W Nash, SA Knaack, P Sudhakar, M Olbei, ... Genome biology 22, 1-28, 2021 | 25 | 2021 |
Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates H Zouk, W Yu, A Oza, M Hawley, PKV Kumar, C Koch, LM Mahanta, ... Genetics in Medicine 24 (2), 454-462, 2022 | 6 | 2022 |
Automated pharmacogenomic reports for clinical genome sequencing BJ Klanderman, C Koch, K Machini, SS Parpattedar, S Bandyadka, CF Lin, ... The Journal of Molecular Diagnostics 24 (3), 205-218, 2022 | 5 | 2022 |
Evolution of regulatory networks controlling adaptive traits in cichlids TK Mehta, C Koch, W Nash, SA Knaack, P Sudhakar, M Olbei, ... BioRxiv, 496034, 2018 | 5 | 2018 |
A framework for integrated clinical risk assessment using population sequencing data JD Fife, T Tran, JR Bernatchez, KE Shepard, C Koch, AP Patel, AC Fahed, ... medRxiv, 2021.08. 12.21261563, 2021 | 4 | 2021 |
Clinical validation, implementation, and reporting of polygenic risk scores for common diseases J Vassy, L Hao, P Kraft, G Berriz, E Hynes, C Koch, P Kumar, ... | 2 | 2021 |
Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis J Dominy, C Koch, L Lamarche, D Denning, A Gurtan, MZ Khan, ... The New England journal of medicine 390 (16), 1537-1538, 2024 | | 2024 |
Complete loss of SLC30A8 in humans improves glucose metabolism and beta cell function LB Lamarche, C Koch, S Khalid, M Zaman, R Zessis, ME Clement, ... medRxiv, 2024.04. 05.24305397, 2024 | | 2024 |
Identification and characterization of human GDF15 knockouts AM Gurtan, S Khalid, C Koch, MZ Khan, LB Lamarche, E Dolan, ... medRxiv, 2024.03. 14.24303793, 2024 | | 2024 |
Development of a clinical assay for reporting polygenic risk scores M Lebo, L Hao, G Berriz, M Danowski, C Koch, PK Kumar, A Lewis, ... Molecular Genetics and Metabolism 132, S217, 2021 | | 2021 |