E. Groopman

Most-cited papers

Diagnostic Utility of Exome Sequencing for Kidney Disease
E. Groopman, M. Marasà, Sophia R. Cameron-Christie, S. Petrovski +48 more
2018New England Journal of Medicine702 citations Open access
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Genomic medicine for kidney disease
E. Groopman, H. Rasouly, A. Gharavi
2018Nature Reviews Nephrology125 citations Open access
Semantic Scholar
Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.
Jung H. Son, Gangcai Xie, Chi Yuan, Lyudmila Ena +16 more
2018American Journal of Human Genetics119 citations Open access
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Whole-Exome Sequencing in Adults With Chronic Kidney Disease A Pilot Study
Sneh Lata, M. Marasà, Yifu Li, D. Fasel +28 more
2017Annals of Internal Medicine118 citations Open access
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The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing
H. Rasouly, E. Groopman, Reuben Heyman-Kantor, D. Fasel +11 more
2018Annals of Internal Medicine71 citations
Semantic Scholar
Scrutiny-Dependent Cancer and Self-fulfilling Risk Factors
Krzysztof Kiryluk, E. Groopman, Hila Milo Rasouly, C. Garcia +1 more
2018Annals of Internal Medicine69 citations
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Genetic Testing for Kidney Disease of Unknown Etiology
T. Hays, E. Groopman, A. Gharavi
2020Kidney International62 citations Open access
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Exome-Based Rare-Variant Analyses in CKD.
Sophia R. Cameron-Christie, Charles J. Wolock, E. Groopman, S. Petrovski +17 more
2019Journal of the American Society of Nephrology49 citations Open access
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Pilot Study of Return of Genetic Results to Patients in Adult Nephrology.
J. Nestor, M. Marasà, Hila Milo-Rasouly, E. Groopman +20 more
2020American Society of Nephrology. Clinical Journal41 citations Open access
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Type IV Collagen Mutations in Familial IgA Nephropathy
Yifu Li, E. Groopman, V. D'Agati, Sindhuri Prakash +14 more
2020Kidney International Reports39 citations Open access
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Rare genetic causes of complex kidney and urological diseases
E. Groopman, G. Povysil, D. Goldstein, A. Gharavi
2020Nature Reviews Nephrology37 citations Open access
Semantic Scholar
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
T. Chiang, Xiu-Ping Liu, Tsung-Jung Wu, Jian-Hong Hu +26 more
2018Genetics in Medicine24 citations Open access
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Towards Precision Nephrology: The Opportunities and Challenges of Genomic Medicine
J. Nestor, E. Groopman, A. Gharavi
2017JN. Journal of Nephrology (Milano. 1992)18 citations Open access
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Exome analysis links kidney malformations to developmental disorders and reveals causal genes
Hila Milo Rasouly, Sarath Babu Krishna Murthy, N. Vena, G. Povysil +104 more
2025Nature Communications13 citations Open access
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Expanding opportunities and emerging challenges: broadening the scope of genetic testing in nephrology
E. Groopman, A. Gharavi
2019Kidney International9 citations Open access
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The diagnostic yield of exome sequencing in liver diseases from a curated gene panel
Xiao-Fei Kong, K. Bogyo, Sheena Kapoor, Patrick R. Shea +17 more
2023Scientific Reports8 citations Open access
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Exome-wide analysis of congenital kidney anomalies reveals new genes and shared architecture with developmental disorders
H. Milo Rasouly, Sarath Babu Krishna Murthy, N. Vena, G. Povysil +41 more
2024medRxiv1 citations Open access
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Investigating the utility of exome sequencing for kidney disease
E. Groopman
20191 citations
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Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes
Hila Milo Rasouly, Sarath Krishna Murthy, N. Vena, G. Povysil +104 more
2025Nature Communications0 citations Open access
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Whole exome sequencing in the diagnosis of liver diseases
Xinyu Kong, K. Bogyo, S. Kapoor, E. Groopman +15 more
2022medRxiv0 citations Open access
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Genetic Testing for Glomerular Diseases
E. Groopman, A. Gharavi
2022Nephrology Self-Assessment Program0 citations
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