Emily Groopman

Diagnostic Utility of Exome Sequencing for Kidney Disease

Emily Groopman, Maddalena Marasà, Sophia Cameron‐Christie et al. · New England Journal of Medicine · 2018 · 773 citations · Full text

Medicine, Genetics, Nephrology +15

Whole-Exome Sequencing in Adults With Chronic Kidney Disease

Sneh Lata, Maddalena Marasà, Yifu Li et al. · Annals of Internal Medicine · 2018 · 205 citations

Medicine, Genetics, Molecular Genetics +17

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes

Jung Hoon Son, Gangcai Xie, Chi Yuan et al. · The American Journal of Human Genetics · 2018 · 148 citations · Full text

Medicine, Biomedical Informatics, Genetics +12

The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing

Hila Milo Rasouly, Emily Groopman, Reuben Heyman-Kantor et al. · Annals of Internal Medicine · 2018 · 82 citations

Life Sciences, Genetics, Molecular Genetics +17