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

Rory J. Tinker

Mount Sinai Medical Center

ORCID: 0000-0001-7093-8844

Also affiliated with Icahn School of Medicine at Mount Sinai

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 3%percentile
1.8Author DataRank

Indexed papers

3in 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 3 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.

Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics

Bioinformatics(2023)10.1093/bioinformatics/btad655
Top 19%
1.1DataRank
Top 19%59 citations

William W. Stead, Ida Aka, April Barnado, Julie A. Bastarache, Elly Brokamp +22 more

Papers

Driven by 17 papers — median percentile 49. Top paper: “Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics”.

Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics

Bioinformatics(2023)10.1093/bioinformatics/btad655
Top 19%
1.1DataRank
Top 19%59 citations

William W. Stead, Ida Aka, April Barnado, Julie A. Bastarache, Elly Brokamp +22 more

Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.02.006
N/A
0.385DataRank · unranked
12 citations

Marni J. Falk, Amy Goldstein, Ibrahim George‐Sankoh, Rui Xiao, Laura Adang +2 more

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

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63888
Top 52%
0.338DataRank
Top 52%7 citations

Rory J. Tinker, Yutaka Furuta, Undiagnosed Diseases Network, John A. Phillips, Alex F. Gimeno

The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas

American Journal of Ophthalmology(2025)10.1016/j.ajo.2025.07.028
N/A
0.165DataRank · unranked
2 citations

Logan Smith, Lisa Bastarache, Kimberly Ezell, Yutaka Furuta, Rizwan Hamid +4 more

Diagnostic delay in monogenic disease: A scoping review

Genetics in Medicine(2024)10.1016/j.gim.2024.101074
N/A
0DataRank · unranked
18 citations

Miles Fisher, Alex F. Gimeno, Kayce Gill, Camille Ivey, Josh F. Peterson +2 more

A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases

Orphanet Journal of Rare Diseases(2024)10.1186/s13023-024-03423-3
N/A
0DataRank · unranked
8 citations

Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Kimberly Ezell, Devin Oglesbee +4 more

The contribution of mosaicism to genetic diseases and de novo pathogenic variants

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63309
N/A
0DataRank · unranked
19 citations

Lisa Bastarache, Kimberly Ezell, Shilpa N. Kobren, Cecilia Esteves, Jill A. Rosenfeld +10 more

Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63597
N/A
0DataRank · unranked
5 citations

Rory J. Tinker, Yutaka Furuta, Alican Gulsevin, Lisa Bastarache, Rizwan Hamid +8 more

Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition

Molecular Genetics and Metabolism Reports(2024)10.1016/j.ymgmr.2024.101145
N/A
0DataRank · unranked
0 citations

Yutaka Furuta, Devin Oglesbee, Enikö K. Pivnick, David C. Rinker, Jonathan H. Sheehan +9 more

Genetic evidence informs the direction of therapeutic modulation in drug development

npj Drug Discovery.(2025)10.1038/s44386-025-00027-0
N/A
0DataRank · unranked
2 citations

Áine Duffy, Joshua K. Park, David Stein, Avner Schlessinger, Yuval Itan +6 more

A statistical framework for evaluating the repeatability and reproducibility of large language models

medRxiv(2025)10.1101/2025.08.06.25333170
N/A
0DataRank · unranked
14 citations

Boyu Ren, Chih-Yuan Hsu, Chao Yan, Rory J. Tinker, Thomas A. Cassini +7 more

First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene

Neurogenetics(2025)10.1007/s10048-025-00835-6
N/A
0DataRank · unranked
0 citations

Russell J. Stewart, Yutaka Furuta, Kimberly Ezell, Lynette Rives, Bethany Nunley +12 more

Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features

medRxiv(2025)10.1101/2025.10.09.25337582
N/A
0DataRank · unranked
0 citations

Neil Jacob, Mohammad Ghouse Syed, Janhawi Kelkar, Colleen Donnelly, Ibrahim Elsharkawi +6 more

A medical odyssey of a 72‐year‐old man with Charcot–Marie–Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63383
N/A
0DataRank · unranked
5 citations

Erica T. Nelson, Serena Neumann, John A. Phillips, Rizwan Hamid, Rory J. Tinker +5 more

Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses

Molecular Genetics & Genomic Medicine(2025)10.1002/mgg3.70165
N/A
0DataRank · unranked
0 citations

Kimberly Ezell, Rizwan Hamid, Joy D. Cogan, Thomas Cassini, Lynette Rives +23 more

Probable digenic inheritance of Diamond–Blackfan anemia

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63454
N/A
0DataRank · unranked
4 citations

Rory J. Tinker, Alican Gulsevin, Serena Neumann, Rizwan Hamid, Joy D. Cogan +7 more