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

Nicholas A. Borja

University of Miami

ORCID: 0000-0002-9199-9096

Also affiliated with Dr. John T. Macdonald Foundation

MedicineBiochemistry, Genetics and Molecular Biology

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 6%percentile
0.340Author 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.

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63904
Top 51%
0.340DataRank
Top 51%7 citations

Rory J. Tinker, Stephanie Bivona, Carson Smith, Theodore Krijnse Locker, Samuela A. Fernandes +7 more

Papers

Driven by 9 papers — median percentile 49. Top paper: “Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network”.

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63904
Top 51%
0.340DataRank
Top 51%7 citations

Rory J. Tinker, Stephanie Bivona, Carson Smith, Theodore Krijnse Locker, Samuela A. Fernandes +7 more

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Nature Communications(2025)10.1038/s41467-025-61712-2
N/A
0.269DataRank · unranked
5 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +95 more

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.51963
N/A
0.208DataRank · unranked
3 citations

Güney Bademci, Stephan Züchner, Médéric Jeanne, Nicholas A. Borja, Danique Beijer +8 more

KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3

Journal of Medical Genetics(2024)10.1136/jmg-2024-109908
N/A
0DataRank · unranked
2 citations

Mohammad Faraz Zafeer, Stephanie Bivona, LéShon Peart, Sakir H. Gultekin, Undiagnosed Diseases Network +3 more

De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.02.019
N/A
0DataRank · unranked
7 citations

Jonathan C. Andrews, Daniel F. Eberl, Güney Bademci, Nicholas A. Borja, Stephanie Bivona +8 more

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63193
N/A
0DataRank · unranked
4 citations

Paulo Borjas‐Mendoza, Stephanie Bivona, LéShon Peart, Joanna Gonzalez, Brittney Keira Johnson +6 more

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

BioData Mining(2025)10.1186/s13040-024-00418-5
N/A
0DataRank · unranked
1 citations

Undiagnosed Diseases Network, Maria T. Acosta, David R. Adams, Ben Afzali, Ali Al-Beshri +95 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174
N/A
0DataRank · unranked
4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 more

Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings

Journal of Human Genetics(2024)10.1038/s10038-024-01312-y
N/A
0DataRank · unranked
1 citations

William McGonigle, Rena Pressman, Willa Thorson, Deborah Barbouth, Nicholas A. Borja +1 more