Emily Groopman
Broad Institute(US)Children's National(US)Columbia University Irving Medical Center(US)Broad Center(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Renal Diseases and Glomerulopathies, Genomic variations and chromosomal abnormalities, Renal and related cancers, Lysosomal Storage Disorders Research
Most-Cited Works
- → Diagnostic Utility of Exome Sequencing for Kidney Disease(2018)736 cited
- → Whole-Exome Sequencing in Adults With Chronic Kidney Disease(2018)197 cited
- → Genome Sequencing for Diagnosing Rare Diseases(2024)159 cited
- → Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes(2018)145 cited
- → Genomic medicine for kidney disease(2018)128 cited
- → Beyond the exome: What’s next in diagnostic testing for Mendelian conditions(2023)111 cited
- → The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing(2018)80 cited