🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Emily Groopman

Broad Institute

ORCID: 0000-0001-8688-7551
Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 7%percentile
0.104Author DataRank

Indexed papers

1in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology
Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Top data-sharing exemplar

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Challenges associated with diagnostic exome sequencing in liver diseases

medRxiv(2022)10.1101/2022.06.21.22276400
Top 78%
0.104DataRank
Top 78%1 citations

Kelsie Bogyo, Sheena Kapoor, Emily Groopman, Amanda Thomas‐Wilson, Enrico Cocchi +15 more

Papers

Driven by 20 papers — median percentile 22. Top paper: “Beyond the exome: What’s next in diagnostic testing for Mendelian conditions”.

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.009
N/A
2.2DataRank · unranked
123 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +91 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761
N/A
0.789DataRank · unranked
192 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Genetics in Medicine(2023)10.1016/j.gim.2023.101036
N/A
0.641DataRank · unranked
71 citations

Marcie Steeves, Pınar Bayrak‐Toydemir, Katherine A. Benson, Bradley P. Coe, Laura K. Conlin +42 more

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.008
N/A
0.489DataRank · unranked
25 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Exome analysis links kidney malformations to developmental disorders and reveals causal genes

Nature Communications(2025)10.1038/s41467-025-62319-3
N/A
0.345DataRank · unranked
9 citations

Sarath Babu Krishna Murthy, Natalie Vena, Gundula Povysil, Andrew Beenken, Miguel Verbitsky +95 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829
N/A
0.330DataRank · unranked
8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

Beyond the exome: what's next in diagnostic testing for Mendelian conditions

arXiv (Cornell University)(2023)10.48550/arxiv.2301.07363
N/A
0.269DataRank · unranked
5 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +19 more

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

medRxiv(2023)10.1101/2023.10.05.23296595
N/A
0.104DataRank · unranked
1 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Challenges associated with diagnostic exome sequencing in liver diseases

medRxiv(2022)10.1101/2022.06.21.22276400
Top 78%
0.104DataRank
Top 78%1 citations

Kelsie Bogyo, Sheena Kapoor, Emily Groopman, Amanda Thomas‐Wilson, Enrico Cocchi +15 more

Developing a scoring system for gene curation prioritization in lysosomal diseases

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108572
N/A
0.104DataRank · unranked
1 citations

Jennifer L Goldstein, Emily Groopman, Shruthi Mohan, Amber Waddell, Raquel Fernandez +10 more

Genetic testing for kidney disease of unknown etiology

Kidney International(2020)10.1016/j.kint.2020.03.031
N/A
0DataRank · unranked
74 citations

Emily Groopman, Ali G. Gharavi, Thomas Hays

DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling

Science Immunology(2022)10.1126/sciimmunol.abi4611
N/A
0DataRank · unranked
51 citations

Kim S. Robinson, Kenneth Lay, Jasmine C. Wong, Ricardo Moreno Traspas, Nasrin Nabavizadeh +24 more

Pilot Study of Return of Genetic Results to Patients in Adult Nephrology

Clinical Journal of the American Society of Nephrology(2020)10.2215/cjn.12481019
N/A
0DataRank · unranked
47 citations

Maddalena Marasà, Hila Milo Rasouly, Emily Groopman, S. Ali Husain, Sumit Mohan +19 more

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

Genetics in Medicine(2024)10.1016/j.gim.2024.101199
N/A
0DataRank · unranked
14 citations

Seth Berger, Samantha Baxter, Erica D. Smith, Changrui Xiao, Daniel G. Calame +89 more

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108362
N/A
0DataRank · unranked
10 citations

Amanda Thomas‐Wilson, Emily Groopman, Vimla S. Aggarwal, Simona Bianconi, Raquel Fernandez +9 more

Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies

Kidney International Reports(2024)10.1016/j.ekir.2024.12.020
N/A
0DataRank · unranked
8 citations

Hila Milo Rasouly, Emily Groopman

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100273
N/A
0DataRank · unranked
3 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +51 more

Type IV Collagen Mutations in Familial IgA Nephropathy

Kidney International Reports(2020)10.1016/j.ekir.2020.04.011
N/A
0DataRank · unranked
43 citations

Emily Groopman, Vivette D. D’Agati, Sindhuri Prakash, Junying Zhang, Małgorzata Mizerska-Wasiak +13 more

Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108593
N/A
0DataRank · unranked
1 citations

Shruthi Mohan, Amber Waddell, Matheus Vernet Machado Bressan Wilke, Raquel Fernández, Meredith Weaver +13 more

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

medRxiv(2023)10.1101/2023.09.27.23294269
N/A
0DataRank · unranked
1 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +50 more