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

Marina T. DiStefano

Broad Institute

ORCID: 0000-0002-8218-5111
Biochemistry, Genetics and Molecular BiologyNeuroscience

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 2%percentile
1.9Author DataRank

Indexed papers

5in 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 5 indexed papers 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.

The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation

Genetics in Medicine(2024)10.1016/j.gim.2024.101228
Top 17%
1.2DataRank
Top 17%59 citations

Danielle R. Azzariti, Larry Babb, Jonathan S. Berg, Leslie G. Biesecker, Zo Bly +28 more

Papers

Driven by 18 papers — median percentile 22. Top paper: “ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines”.

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Genome Medicine(2022)10.1186/s13073-021-01004-8
N/A
2.6DataRank · unranked
85 citations

Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer L Goldstein, Xi Luo +30 more

The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation

Genetics in Medicine(2024)10.1016/j.gim.2024.101228
Top 17%
1.2DataRank
Top 17%59 citations

Danielle R. Azzariti, Larry Babb, Jonathan S. Berg, Leslie G. Biesecker, Zo Bly +28 more

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

medRxiv(2022)10.1101/2022.01.03.21268593
Top 34%
0.575DataRank
Top 34%17 citations

Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin +41 more

Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms

Annual Review of Biomedical Data Science(2024)10.1146/annurev-biodatasci-102423-112456
N/A
0.502DataRank · unranked
16 citations

Courtney L Thaxton, Tristan H Nelson, Marina T. DiStefano, Juliann M. Savatt, Matthew Brush +25 more

Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms

Genetics in Medicine(2023)10.1016/j.gim.2023.101029
N/A
0.434DataRank · unranked
17 citations

Marina T. DiStefano, Erin Rooney Riggs, Katherine Josephs, Fowzan S. Alkuraya, Joanna Amberger +21 more

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

medRxiv(2024)10.1101/2024.11.19.24317561
Top 78%
0.104DataRank
Top 78%1 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 more

Implementation of a dyadic nomenclature for monogenic diseases

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.019
N/A
0DataRank · unranked
23 citations

Leslie G. Biesecker, Marina T. DiStefano, Melissa A Haendel, Ada Hamosh, Emma Owens +4 more

Interpreting the functional impact of genetic variants: The need for context qualifiers

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.11.007
N/A
0DataRank · unranked
3 citations

Hélène Cavé, Alessandro De Luca, Marina T. DiStefano, Rachel Karchin, Ana Clara Lugones +8 more

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time

Genetics in Medicine(2025)10.1016/j.gim.2025.101392
N/A
0DataRank · unranked
1 citations

Marina T. DiStefano, Andrea M. Oza, Pamela Ajuyah, Ryan Webb, Enyonam Edoh +76 more

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.09.06.673538
N/A
0DataRank · unranked
3 citations

Anna Přistoupilová, Kendrah Kidd, Václav Janoušek, Martin Radina, Petr Vyleťal +38 more

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103429
Top 100%
0DataRank
Top 100%0 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 more

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

UNC Libraries(2020)10.17615/dtq0-px12
Top 100%
0DataRank
Top 100%0 citations

Ozge Ceyhan‐Birsoy, Bryce A. Seifert, Tam P. Sneddon, Natasha T. Strande, Erin M. Ramos +18 more

Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework

Journal of Bone and Mineral Research(2025)10.1093/jbmr/zjaf183
N/A
0DataRank · unranked
0 citations

Hannah McCurry, Amanda Girod, Madeline Hughes, Emma H. Wilcox, Mayher Patel +23 more

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

medRxiv(2021)10.1101/2021.01.27.21250652
N/A
0DataRank · unranked
8 citations

Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill +18 more

ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines

medRxiv(2021)10.1101/2021.02.12.21251663
N/A
0DataRank · unranked
5 citations

Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer L Goldstein, Xi Luo +30 more

Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation

Cell Genomics(2022)10.1016/j.xgen.2022.100131
N/A
0DataRank · unranked
56 citations

Jennifer L Goldstein, Marina T. DiStefano, Kathleen Wallace, P. Dane Witmer, Melissa A Haendel +4 more

Assessment of autonomic symptom scales in patients with neurodevelopmental diagnoses using electronic health record data

Research in autism spectrum disorders(2023)10.1016/j.rasd.2023.102234
N/A
0DataRank · unranked
2 citations

D Beiler, Joshua D. Smith, Patrick B. Asdell, Sarah Dickey, Marina T. DiStefano +2 more

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms

medRxiv(2023)10.1101/2023.03.30.23287948
N/A
0DataRank · unranked
7 citations

Marina T. DiStefano, Erin Rooney Riggs, Katherine Josephs, Fowzan S. Alkuraya, Joanna Amberger +21 more