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

Bo Yuan

ORCID: 0000-0001-7278-5116

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 3%percentile
1.7Author 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.

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

Communications Biology(2024)10.1038/s42003-023-05708-y
Top 12%
1.7DataRank
Top 12%52 citations

Karynne Patterson, Divya Kalra, Marsha M. Wheeler, Yi–Ju Chen, Sara E. Kalla +95 more

Papers

Driven by 21 papers — median percentile 88. 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

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

Communications Biology(2024)10.1038/s42003-023-05708-y
Top 12%
1.7DataRank
Top 12%52 citations

Karynne Patterson, Divya Kalra, Marsha M. Wheeler, Yi–Ju Chen, Sara E. Kalla +95 more

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

Genetics in Medicine(2020)10.1038/s41436-020-0864-8
N/A
0.641DataRank · unranked
71 citations

Lei Wang, Pengfei Liu, Chad A. Shaw, Hongzheng Dai, Lance Cooper +25 more

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

Blood(2020)10.1182/blood.2020006441
N/A
0.578DataRank · unranked
46 citations

M. Cecilia Poli, Jaime Vengoechea, Sonia Bonanomi, Julio César Orellana, Grazia Fazio +29 more

Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.05.014
N/A
0.330DataRank · unranked
8 citations

Jonathan Klonowski, Bo Yuan, Karen J. Coveler, Zain Dardas, Iman Egab +15 more

A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay

Human Mutation(2022)10.1002/humu.24497
N/A
0.292DataRank · unranked
6 citations

Wenmiao Zhu, Bo Yuan, Nicole Walley, Kelly Schoch, Yong‐hui Jiang +10 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

AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders

NEJM AI(2024)10.1056/aioa2300009
N/A
0DataRank · unranked
45 citations

Chaozhong Liu, Linhua Wang, Rami AI-Ouran, Cole A. Deisseroth, Sasidhar Pasupuleti +18 more

The common HAQ STING allele prevents clinical penetrance of COPA syndrome

The Journal of Experimental Medicine(2024)10.1084/jem.20242179
N/A
0DataRank · unranked
16 citations

Shogo Koide, Maryel Likhite, Yoshihiko Kuchitsu, Senkottuvelan Kadirvel, Christopher S. Law +13 more

Tracking updates in clinical databases increases efficiency for variant reanalysis

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101841
N/A
0DataRank · unranked
3 citations

Xia Tian, Vaughan Woodzell, Richard A. Gibbs, Bo Yuan, Eric Venner +1 more

Author Correction: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

Communications Biology(2024)10.1038/s42003-024-06408-x
N/A
0DataRank · unranked
0 citations

Karynne Patterson, Divya Kalra, Marsha M. Wheeler, Yi–Ju Chen, Sara E. Kalla +93 more

Case Report: p40phox deficiency underlying pediatric-onset systemic lupus erythematosus

Frontiers in Pediatrics(2024)10.3389/fped.2024.1425874
N/A
0DataRank · unranked
0 citations

Natalia Davila, Yuqing Wang, Michelle Zelnick, Eyal Muscal, Martha Curry +7 more

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2

Genetics in Medicine(2025)10.1016/j.gim.2025.101613
N/A
0DataRank · unranked
5 citations

Michelle Zelnick, Shannon McNulty, Justyne E Ross, Namrata Khurana, Xueyang Pan +38 more

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.09.011
N/A
0DataRank · unranked
112 citations

Kathleen Muenzen, Leslie G. Biesecker, Kevin M. Bowling, Gregory M. Cooper, Michael O. Dorschner +25 more

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA , DCLRE1C , IL2RG , IL7R , JAK3 , RAG1 , and RAG2

medRxiv(2025)10.1101/2025.02.11.25322033
N/A
0DataRank · unranked
2 citations

Michelle Zelnick, Shannon McNulty, Justyne E Ross, Namrata Khurana, Xueyang Pan +19 more

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.003
N/A
0DataRank · unranked
48 citations

Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia +48 more

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

European Journal of Human Genetics(2020)10.1038/s41431-020-0632-x
N/A
0DataRank · unranked
40 citations

Gözde Yeşil, Harikiran Nistala, Alper Gezdirici, Yavuz Bayram, Kalyan C. Nannuru +32 more

Deforming Polyarthritis in a North Indian Family—Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI)

Journal of Clinical Immunology(2020)10.1007/s10875-020-00872-w
N/A
0DataRank · unranked
5 citations

Ankur Kumar Jindal, Ashwini Prithvi, Anit Kaur, Amit Rawat, Madhubala Sharma +4 more

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

Frontiers in Pediatrics(2021)10.3389/fped.2021.673957
N/A
0DataRank · unranked
26 citations

Mabel Ladino, Katherine Aránguiz, Gonzalo P. Méndez, Zeynep Coban‐Akdemir, Bo Yuan +8 more

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

medRxiv(2023)10.1101/2023.05.22.23289895
N/A
0DataRank · unranked
18 citations

Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene +18 more

Empowering personalized pharmacogenomics with generative AI solutions

Journal of the American Medical Informatics Association(2024)10.1093/jamia/ocae039
N/A
0DataRank · unranked
58 citations

Bo Yuan, Eric Venner, Christie M. Ballantyne, Katherine M. Robinson, James C. Coons +4 more