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Cell Genomics|February 13, 2023
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomesKonrad J Karczewski, Matthew Solomonson, Katherine R Chao, et al.Nature|May 29, 2020
A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.Cancer|May 13, 2022
Histologic type predicts disparate outcomes in pediatric hepatocellular neoplasms: A Pediatric Surgical Oncology Research Collaborative studyScott S Short, Zachary J Kastenberg, Guo Wei, et al.Medrxiv : the Preprint Server for Health Sciences|June 9, 2020
Characterization and clinical course of 1000 patients with COVID-19 in New York: retrospective case seriesMichael G Argenziano, Samuel L Bruce, Cody L Slater, et al.BMJ (Clinical Research Ed.)|May 31, 2020
Characterization and clinical course of 1000 patients with coronavirus disease 2019 in New York: retrospective case seriesMichael G Argenziano, Samuel L Bruce, Cody L Slater, et al.Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Integrating 730,947 exome sequences with clinical literature improves gene discoveryJeremy Guez, Julia K Goodrich, Mikhail A Moldovan, et al.Nature|May 29, 2020
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.Nature|August 19, 2016
Analysis of protein-coding genetic variation in 60,706 humansMonkol Lek, Konrad J Karczewski, Eric V Minikel, et al.Nature|February 7, 2020
Analyses of non-coding somatic drivers in 2,658 cancer whole genomesEsther Rheinbay, Morten Muhlig Nielsen, Federico Abascal, et al.Hepatology (Baltimore, Md.)|September 7, 2022
Serum biomarkers correlated with liver stiffness assessed in a multicenter study of pediatric cholestatic liver diseaseDaniel H Leung, Sridevi Devaraj, Nathan P Goodrich, et al.Pageof 93