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

Joel B. Krier

Brigham and Women's Hospital

ORCID: 0000-0001-7981-3618
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 2%percentile
2.2Author DataRank

Indexed papers

2in 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 2 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.

Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.10.005
Top 11%
1.9DataRank
Top 11%73 citations

Nidhi Shah, Kalotina Machini, Emma Perez, Kurt D. Christensen, Hana Zouk +15 more

Papers

Driven by 19 papers — median percentile 68. Top paper: “Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization”.

Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.10.005
Top 11%
1.9DataRank
Top 11%73 citations

Nidhi Shah, Kalotina Machini, Emma Perez, Kurt D. Christensen, Hana Zouk +15 more

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

Human Molecular Genetics(2020)10.1093/hmg/ddaa081
N/A
1.1DataRank · unranked
41 citations

Lauren C. Briere, Oguz Kanca, Paul C. Marcogliese, Melissa Walker, Frances A. High +13 more

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460
N/A
0.992DataRank · unranked
35 citations

Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa +93 more

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z
N/A
0.564DataRank · unranked
42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8
N/A
0.533DataRank · unranked
34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 more

Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing

Value in Health(2020)10.1016/j.jval.2020.01.017
N/A
0.416DataRank · unranked
15 citations

Dmitry Dukhovny, Kathryn A. Phillips, Alan H. Beggs, Robert C. Green, Richard B. Parad +27 more

Returning Actionable Genomic Results in a Research Biobank: Analytic Validity, Clinical Implementation and Resource Utilization

medRxiv(2021)10.1101/2021.08.03.21261489
Top 53%
0.319DataRank
Top 53%4 citations

Nidhi Shah, Kalotina Machini, Emma Perez, Kurt D. Christensen, Hana Zouk +15 more

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121
N/A
0.292DataRank · unranked
6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 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

AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease

Journal of Biomedical Informatics(2022)10.1016/j.jbi.2022.104174
N/A
0.165DataRank · unranked
2 citations

D. Etin, S I Trifonov, Viktoria Evdokimova, V. Ulitin, Jun Shen +15 more

Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia

Molecular Genetics and Metabolism Reports(2021)10.1016/j.ymgmr.2021.100742
N/A
0.165DataRank · unranked
2 citations

Joel B. Krier, Sai Merugumala, Gerard T. Berry, Alexander Lin, Andrew B. Stergachis

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.07.021
N/A
0DataRank · unranked
4 citations

Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg +15 more

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.03.014
N/A
0DataRank · unranked
16 citations

Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg +95 more

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3
N/A
0DataRank · unranked
49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 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

High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases

Journal of Clinical Investigation(2023)10.1172/jci169619
N/A
0DataRank · unranked
3 citations

Takanori Sasaki, Joshua Keegan, Jennifer P. Nguyen, Alec Griffith, Alice Horisberger +21 more

Family genetic risk communication and reverse cascade testing in the BabySeq project

Genetics in Medicine(2024)10.1016/j.gim.2024.101350
N/A
0DataRank · unranked
3 citations

Hadley Stevens Smith, Stacey Pereira, Casie A. Genetti, Amy L. McGuire, Alan H. Beggs +38 more

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

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.13.580158
N/A
0DataRank · unranked
3 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +14 more

Hypermobile Ehlers-Danlos Syndrome: Cerebrovascular, Autonomic and Neuropathic Features

American Journal of Medicine Open(2025)10.1016/j.ajmo.2025.100111
N/A
0DataRank · unranked
7 citations

David M. Systrom, Sadie P. Marciano, A. Veronica Witte, Arabella Warren, Donna Felsenstein +12 more