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

Francesco Vetrini

Indiana University – Purdue University Indianapolis

ORCID: 0000-0003-0001-0199
Biochemistry, 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 100%percentile
0Author DataRank

Indexed papers

0in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 13 papers. Top paper: “Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies”.

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.07.010
N/A
1.4DataRank · unranked
57 citations

Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin B Currall, Kathryn O’Keefe +40 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

Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX

Journal of Molecular Diagnostics(2021)10.1016/j.jmoldx.2021.04.012
N/A
0.434DataRank · unranked
17 citations

Amy Turner, Ulrich Broeckel, D. Brian Dawson, Andrea Gaedigk, Ty C. Lynnes +6 more

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.08.12.248526
N/A
0.385DataRank · unranked
12 citations

Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin B Currall, Kathryn O’Keefe +40 more

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

Nature Communications(2024)10.1038/s41467-024-52095-x
N/A
0.345DataRank · unranked
9 citations

Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan +53 more

Macrocephaly and developmental delay caused by missense variants in RAB5C

Human Molecular Genetics(2023)10.1093/hmg/ddad130
N/A
0DataRank · unranked
4 citations

Weimin Yuan, Federico Tessadori, Wilmer R. Rodriguez-Polanco, Jeremy J. Grubbs, Bo Zhang +94 more

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome

Brain(2025)10.1093/brain/awaf035
N/A
0DataRank · unranked
9 citations

Sharayu Jangam, Martin MC Chui, Kayla Treat, Lorenzo Graziani, Alessia Soldano +24 more

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

EMBO Molecular Medicine(2025)10.1038/s44321-025-00290-8
N/A
0DataRank · unranked
8 citations

Marisa W. Friederich, Daniella H. Hock, Jessie R. Zhang, Liana Valin, Jill A. Rosenfeld +35 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

Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing

Journal of Molecular Diagnostics(2020)10.1016/j.jmoldx.2020.10.011
N/A
0DataRank · unranked
9 citations

Pınar Bayrak‐Toydemir, Ty C. Lynnes, Rong Mao, James D. Metcalf, Kasinathan Muralidharan +9 more

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

medRxiv(2025)10.1101/2025.07.08.25330848
N/A
0DataRank · unranked
1 citations

Marisa W. Friederich, Daniella H. Hock, Jessie R. Zhang, Liana Valin, Jill A. Rosenfeld +35 more

Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants

Neurology(2021)10.1212/wnl.0000000000012143
N/A
0DataRank · unranked
15 citations

Karen M. Joos, John A. Phillips, Joy D. Cogan, John H. Newman, Rizwan Hamid +10 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