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Emily Groopman
Emily Groopman
Post-doctoral research fellow, O'Donnell-Luria laboratory, Broad Institute of MIT and Harvard/Boston
Verified email at cumc.columbia.edu - Homepage
Title
Cited by
Cited by
Year
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
6272019
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
1922018
Genomic medicine for kidney disease
EE Groopman, HM Rasouly, AG Gharavi
Nature Reviews Nephrology 14 (2), 83-104, 2018
1412018
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
1092018
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
672019
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
652015
Genetic testing for kidney disease of unknown etiology
T Hays, EE Groopman, AG Gharavi
Kidney International 98 (3), 590-600, 2020
582020
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
562016
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
482019
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
402020
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
332020
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
322020
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
222019
Towards precision nephrology: the opportunities and challenges of genomic medicine
JG Nestor, EE Groopman, AG Gharavi
Journal of nephrology 31 (1), 47-60, 2018
212018
Expanding opportunities and emerging challenges: Broadening the scope of genetic testing in nephrology
EE Groopman, AG Gharavi
Kidney international 95 (4), 743-746, 2019
102019
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
72019
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
12018
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
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