Diagnostic utility of exome sequencing for kidney disease EE Groopman, M Marasa, S Cameron-Christie, S Petrovski, VS Aggarwal, ... New England Journal of Medicine 380 (2), 142-151, 2019 | 703 | 2019 |
Whole-exome sequencing in adults with chronic kidney disease: a pilot study S Lata, M Marasa, Y Li, DA Fasel, E Groopman, V Jobanputra, H Rasouly, ... Annals of internal medicine 168 (2), 100-109, 2018 | 209 | 2018 |
Genomic medicine for kidney disease EE Groopman, HM Rasouly, AG Gharavi Nature Reviews Nephrology 14 (2), 83-104, 2018 | 158 | 2018 |
Deep phenotyping on electronic health records facilitates genetic diagnosis by clinical exomes JH Son, G Xie, C Yuan, L Ena, Z Li, A Goldstein, L Huang, L Wang, ... The American Journal of Human Genetics 103 (1), 58-73, 2018 | 114 | 2018 |
The burden of candidate pathogenic variants for kidney and genitourinary disorders emerging from exome sequencing HM Rasouly, EE Groopman, R Heyman-Kantor, DA Fasel, A Mitrotti, ... Annals of internal medicine 170 (1), 11-21, 2019 | 78 | 2019 |
Cooking increases net energy gain from a lipid‐rich food EE Groopman, RN Carmody, RW Wrangham American journal of physical anthropology 156 (1), 11-18, 2015 | 69 | 2015 |
Genetic testing for kidney disease of unknown etiology T Hays, EE Groopman, AG Gharavi Kidney International 98 (3), 590-600, 2020 | 63 | 2020 |
Genetic evidence of human adaptation to a cooked diet RN Carmody, M Dannemann, AW Briggs, B Nickel, EE Groopman, ... Genome biology and evolution 8 (4), 1091-1103, 2016 | 60 | 2016 |
Exome-based rare-variant analyses in CKD S Cameron-Christie, CJ Wolock, E Groopman, S Petrovski, ... Journal of the American Society of Nephrology 30 (6), 1109-1122, 2019 | 53 | 2019 |
Type IV collagen mutations in familial IgA nephropathy Y Li, EE Groopman, V D’Agati, S Prakash, J Zhang, M Mizerska-Wasiak, ... Kidney International Reports 5 (7), 1075-1078, 2020 | 42 | 2020 |
Pilot study of return of genetic results to patients in adult nephrology JG Nestor, M Marasa, H Milo-Rasouly, EE Groopman, SA Husain, ... Clinical Journal of the American Society of Nephrology 15 (5), 651-664, 2020 | 39 | 2020 |
Rare genetic causes of complex kidney and urological diseases EE Groopman, G Povysil, DB Goldstein, AG Gharavi Nature Reviews Nephrology 16 (11), 641-656, 2020 | 35 | 2020 |
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel T Chiang, X Liu, TJ Wu, J Hu, FJ Sedlazeck, S White, D Schaid, ... Genetics in Medicine 21 (9), 2135-2144, 2019 | 27 | 2019 |
Towards precision nephrology: the opportunities and challenges of genomic medicine JG Nestor, EE Groopman, AG Gharavi Journal of nephrology 31 (1), 47-60, 2018 | 22 | 2018 |
Expanding opportunities and emerging challenges: Broadening the scope of genetic testing in nephrology EE Groopman, AG Gharavi Kidney international 95 (4), 743-746, 2019 | 9 | 2019 |
Unusual case of lipoprotein glomerulopathy first diagnosed in a protocol kidney allograft biopsy I Batal, G Fakhoury, E Groopman, VD D’Agati, H Morris Kidney international reports 4 (2), 350-354, 2019 | 8 | 2019 |
Whole-Exome Sequencing in Adults With Chronic Kidney Disease K Kiryluk, E Groopman, H Rasouly, CK Garcia, AG Gharavi Annals of internal medicine 169 (2), 132-133, 2018 | 1 | 2018 |
Refining ClinGen loss of function variant recommendations for the phenylalanine hydroxylase (PAH) gene: the PAH variant curation expert panel’s experience E Groopman, M Weaver, D Zastrow, G Enns, A Feigenbaum, ... Molecular Genetics and Metabolism 132, S231, 2021 | | 2021 |
O RIGINAL R ESEARCH The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing HM Rasouly, EE Groopman, R Heyman-kantor, DA Fasel, A Mitrotti, ... | | 2019 |
Investigating the utility of exome sequencing for kidney disease E Groopman Columbia University, 2019 | | 2019 |