Peter N. Robinson

University of Connecticut

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 1%percentile

44.3Author DataRank

Indexed papers

28in 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 28 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 →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

Journal of General Internal Medicine(2014)10.1007/s11606-014-2908-8

Top 1%

11.5DataRank

Top 1%199 citations

Louise Johnston, Domenica Taruscio, Lucia Monaco, Christophe Béroud, Manaswi Gupta +18 more

Papers

Driven by 123 papers — median percentile 61. Top paper: “RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research”.

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

Journal of General Internal Medicine(2014)10.1007/s11606-014-2908-8

Top 1%

11.5DataRank

Top 1%199 citations

Louise Johnston, Domenica Taruscio, Lucia Monaco, Christophe Béroud, Manaswi Gupta +18 more

The National COVID Cohort Collaborative (N3C): Rationale, design, infrastructure, and deployment

Journal of the American Medical Informatics Association(2020)10.1093/jamia/ocaa196

Top 1%

9.5DataRank

Top 1%592 citations

Christopher G. Chute, Tellen D. Bennett, David Eichmann, Justin Guinney, Warren A. Kibbe +51 more

The Human Phenotype Ontology in 2021

Nucleic Acids Research(2020)10.1093/nar/gkaa1043

Top 3%

7.0DataRank

Top 3%1255 citations

Michael Gargano, Nicolas Matentzoglu, Leigh C Carmody, David Lewis‐Smith, Nicole A. Vasilevsky +46 more

KG-COVID-19: A Framework to Produce Customized Knowledge Graphs for COVID-19 Response

Patterns(2020)10.1016/j.patter.2020.100155

Top 7%

3.3DataRank

Top 7%95 citations

Deepak R Unni, Tiffany J. Callahan, Luca Cappelletti, Vida Ravanmehr, Seth Carbon +13 more

Mondo: Unifying diseases for the world, by the world

medRxiv(2022)10.1101/2022.04.13.22273750

Top 8%

2.7DataRank

Top 8%104 citations

Nicolas A Matentzoglu, Sabrina Toro, Joseph E Flack, Harshad Hegde, Deepak R Unni +83 more

The GA4GH Phenopacket schema defines a computable representation of clinical data

Nature Biotechnology(2022)10.1038/s41587-022-01357-4

N/A

2.4DataRank · unranked

111 citations

Michael Baudis, Gareth Baynam, J. Beckmann, Sergi Beltrán, Orion J. Buske +62 more

The case for open science: rare diseases

JAMIA Open(2020)10.1093/jamiaopen/ooaa030

N/A

2.2DataRank · unranked

63 citations

Peter N. Robinson, William A. Gahl, Paul Avillach, Gareth Baynam, Helene Cederroth +20 more

The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species

Nucleic Acids Research(2023)10.1093/nar/gkad1082

Top 14%

1.5DataRank

Top 14%106 citations

Kevin Schaper, Nicolas A Matentzoglu, Vincent Rubinetti, Faisal Alquaddoomi, Corey Cox +39 more

An open source knowledge graph ecosystem for the life sciences

Scientific Data(2024)10.1038/s41597-024-03171-w

Top 15%

1.4DataRank

Top 15%63 citations

Ignacio J. Tripodi, Adrianne L. Stefanski, Luca Cappelletti, Sanya B. Taneja, Jordan M Wyrwa +27 more

A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family

Experimental Eye Research(2012)10.1016/j.exer.2012.09.010

N/A

1.4DataRank · unranked

20 citations

Peter N. Robinson, Jai Rup Singh, Vanita Vanita, Seema Saini

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Human Mutation(2022)10.1002/humu.24353

N/A

1.3DataRank · unranked

63 citations

Davide Piscia, Leslie Matalonga, Alberto Corvò, Carles García, Marcos Fernández-Callejo +46 more

Characterizing Long COVID: Deep Phenotype of a Complex Condition

eBioMedicine(2021)10.1016/j.ebiom.2021.103722

N/A

0.802DataRank · unranked

209 citations

Nicole A. Vasilevsky, Leigh C Carmody, Diane N. Rafizadeh, Alfred J Anzalone, Marc D. Basson +53 more

Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable

Epilepsia(2021)10.1111/epi.16908

Top 25%

0.794DataRank

Top 25%25 citations

Peter D. Galer, Ganna Balagura, Hugh Kearney, Shiva Ganesan, Mahgenn Cosico +8 more

Metformin is associated with reduced COVID-19 severity in patients with prediabetes

Diabetes Research and Clinical Practice(2022)10.1016/j.diabres.2022.110157

Top 30%

0.662DataRank

Top 30%21 citations

Elena Casiraghi, Bryan Laraway, Ben D Coleman, Hannah Blau, Adnin Zaman +11 more

The Environmental Conditions, Treatments, and Exposures Ontology (ECTO): connecting toxicology and exposure to human health and beyond

Journal of Biomedical Semantics(2023)10.1186/s13326-023-00283-x

Top 31%

0.648DataRank

Top 31%17 citations

Anne E. Thessen, William D. Duncan, Nicolas A Matentzoglu, Charles Schmitt, Cynthia Grondin +6 more

Modelling kidney disease using ontology: insights from the Kidney Precision Medicine Project

Nature Reviews Nephrology(2020)10.1038/s41581-020-00335-w

N/A

0.641DataRank · unranked

71 citations

Lucy Lu Wang, Jennifer A. Schaub, John F. O’Toole, Becky Steck, Avi Z. Rosenberg +24 more

The Ontology of Biological Attributes (OBA)—computational traits for the life sciences

Mammalian Genome(2023)10.1007/s00335-023-09992-1

Top 33%

0.596DataRank

Top 33%21 citations

James P. Balhoff, Meghan A. Balk, Robyn L. Ball, Susan M. Bello, Anita R. Caron +21 more

Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients

Journal of Human Immunity(2025)10.70962/jhi.20250007

Top 35%

0.557DataRank

Top 35%22 citations

Mickaël Alligon, Michael H. Albert, Matthew Buckland, David Edgar, Benjamin Gathmann +94 more

An evaluation of GPT models for phenotype concept recognition

BMC Medical Informatics and Decision Making(2024)10.1186/s12911-024-02439-w

N/A

0.550DataRank · unranked

38 citations

Harry Caufield, Dylan Gration, Gareth Baynam, Melissa A Haendel, Peter N. Robinson +3 more

Phenopacket-tools: Building and validating GA4GH Phenopackets

PLoS ONE(2023)10.1371/journal.pone.0285433

Top 36%

0.534DataRank

Top 36%12 citations

Julius O.B. Jacobsen, Alex H. Wagner, Tudor Groza, Martha A. Beckwith, Lauren Rekerle +13 more

Rare disease gene association discovery in the 100,000 GenomesProject

Nature(2025)10.1038/s41586-025-08623-w

N/A

0.515DataRank · unranked

18 citations

Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah R. Behr +56 more

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100371

Top 39%

0.489DataRank

Top 39%12 citations

Michael J Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh C Carmody +30 more

PhenoRerank: A re-ranking model for phenotypic concept recognition pre-trained on human phenotype ontology

Journal of Biomedical Informatics(2022)10.1016/j.jbi.2022.104059

Top 41%

0.469DataRank

Top 41%6 citations

Ling Luo, Po‐Ting Lai, Daniel Veltri, Andrew J. Oler, Sandhya Xirasagar +5 more

The Unified Phenotype Ontology : a framework for cross-species integrative phenomics

Genetics(2025)10.1093/genetics/iyaf027

Top 45%

0.406DataRank

Top 45%10 citations

Susan M. Bello, Ray Stefancsik, Sarah M. Alghamdi, Anna V. Anagnostopoulos, James P. Balhoff +41 more

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

medRxiv(2024)10.1101/2024.05.29.24308104

Top 51%

0.345DataRank

Top 51%9 citations

Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh C Carmody, Jessica X. Chong +27 more

Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learning

Bioinformatics Advances(2024)10.1093/bioadv/vbae036

N/A

0.330DataRank · unranked

8 citations

Lauren Rekerle, Tommaso Fontana, Peter Hansen, Elena Casiraghi, Vida Ravanmehr +12 more

An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets

Scientific Data(2025)10.1038/s41597-025-04558-z

Top 52%

0.330DataRank

Top 52%8 citations

Miriam Hübner, Filip Rehburg, Steffen Sander, Sophie Anne Inès Klopfenstein, Samer Alkarkoukly +11 more

Lethal phenotypes in Mendelian disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101141

Top 56%

0.287DataRank

Top 56%5 citations

Samantha Lawson, Ignatia B. Van den Veyver, Gabriel Marengo, David Zocche, Stephen A. Murray +4 more

Risk of severe acute respiratory syndrome coronavirus 2 infection among women with polycystic ovary syndrome

Fertility and Sterility(2023)10.1016/j.fertnstert.2023.01.025

N/A

0.269DataRank · unranked

5 citations

Mary Regina Boland, Anuja Dokras, Melissa A Haendel, Christopher G. Chute, Anita Walden +67 more

Ontology-based modeling, integration, and analysis of heterogeneous clinical, pathological, and molecular kidney data for precision medicine

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.04.01.587658

Top 59%

0.255DataRank

Top 59%4 citations

Laura Barisoni, Avi Z. Rosenberg, Peter N. Robinson, Alexander D. Diehl, Yichao Chen +19 more

The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.26.525742

Top 59%

0.254DataRank

Top 59%3 citations

James P. Balhoff, Meghan A. Balk, Robyn L. Ball, Susan M. Bello, Anita R. Caron +21 more

The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease

medRxiv(2023)10.1101/2023.07.13.23292612

Top 60%

0.246DataRank

Top 60%3 citations

Michael Gargano, Sabrina Toro, Nicole A. Vasilevsky, Margaret P Adam, Hannah Blau +21 more

A Pan-Cancer Patient-Derived Xenograft Histology Image Repository with Genomic and Pathologic Annotations Enables Deep Learning Analysis

Cancer Research(2024)10.1158/0008-5472.can-23-1349

Top 62%

0.222DataRank

Top 62%3 citations

Xing Yi Woo, Soner Koc, Todd Sheridan, Steven B. Neuhauser, Shidan Wang +49 more

Leveraging Generative AI to Accelerate Biocuration of Medical Actions for Rare Disease

medRxiv(2024)10.1101/2024.08.22.24310814

N/A

0.208DataRank · unranked

3 citations

J. Harry Caufield, Leigh C Carmody, Michael Gargano, Sabrina Toro, Trish Whetzel +10 more

Characterizing Long COVID: Deep Phenotype of a Complex Condition

medRxiv(2021)10.1101/2021.06.23.21259416

N/A

0.165DataRank · unranked

2 citations

Madeline A Rock, Nicole A. Vasilevsky, Leigh C Carmody, Diane N. Rafizadeh, Alfred J Anzalone +53 more

Development of self-phenotyping tools to empower patients and improve diagnostics

EBioMedicine(2025)10.1016/j.ebiom.2025.105965

Top 71%

0.124DataRank

Top 71%1 citations

Sonja I. Ziniel, Julie A. McMurry, Catherine A. Brownstein, John S. Brownstein, Erin Rooney Riggs +10 more

PDXNet Portal: Patient-Derived Xenograft model, data, workflow, and tool discovery

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.10.15.464537

Top 72%

0.110DataRank

Top 72%1 citations

Michael W. Lloyd, Jeffrey Grover, Sara Seepo, Sai Lakshmi Subramanian, Manisha Ray +34 more

An Open-Source Knowledge Graph Ecosystem for the Life Sciences

Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)(2023)10.48550/arxiv.2307.05727

Top 78%

0.104DataRank

Top 78%1 citations

Ignacio J. Tripodi, Adrianne L. Stefanski, Luca Cappelletti, Sanya B. Taneja, Jordan M Wyrwa +27 more

GRAPE for fast and scalable graph processing and random-walk-based embedding

Nature Computational Science(2023)10.1038/s43588-023-00465-8

N/A

0DataRank · unranked

32 citations

Tommaso Fontana, Elena Casiraghi, Vida Ravanmehr, Tiffany J. Callahan, Carlos Cano +6 more

A method for comparing multiple imputation techniques: A case study on the U.S. national COVID cohort collaborative

Journal of Biomedical Informatics(2023)10.1016/j.jbi.2023.104295

N/A

0DataRank · unranked

23 citations

Rachel Wong, Margaret Hall, Ben D Coleman, Marco Notaro, Michael D. Evans +18 more

Ontologizing health systems data at scale: making translational discovery a reality

npj Digital Medicine(2023)10.1038/s41746-023-00830-x

N/A

0DataRank · unranked

21 citations

Adrianne L. Stefanski, Jordan M Wyrwa, Chenjie Zeng, Anna Ostropolets, Juan M. Banda +27 more

Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms

Genetics in Medicine(2023)10.1016/j.gim.2023.101029

N/A

0DataRank · unranked

17 citations

Marina T. DiStefano, Erin Rooney Riggs, Katherine Josephs, Fowzan S. Alkuraya, Joanna Amberger +21 more

Diffuse alveolar hemorrhage in children with interstitial lung disease: Determine etiologies!

Pediatric Pulmonology(2023)10.1002/ppul.26301

N/A

0DataRank · unranked

16 citations

Christina Rapp, Nicolaus Schwerk, Julia Carlens, Martin Wetzke, Nagehan Emiralioğlu +14 more

The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease

Med(2023)10.1016/j.medj.2023.10.003

N/A

0DataRank · unranked

10 citations

Michael Gargano, Sabrina Toro, Nicole A. Vasilevsky, Margaret P Adam, Hannah Blau +21 more

Inherited deletion of 9p22.3‐p24.3 and duplication of 18p11.31‐p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes

Journal of Cellular and Molecular Medicine(2023)10.1111/jcmm.17662

N/A

0DataRank · unranked

6 citations

Mohammad Amin Kerachian, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Susan Hosseini, Peter N. Robinson +2 more

Term-BLAST-like alignment tool for concept recognition in noisy clinical texts

Bioinformatics(2023)10.1093/bioinformatics/btad716

N/A

0DataRank · unranked

3 citations

Honghan Wu, Marcel E. Dinger, Daniel Daniš, Coleman Hilton, Anita Bagley +5 more

De novoTRPM3missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy

Molecular Case Studies(2023)10.1101/mcs.a006293

N/A

0DataRank · unranked

8 citations

Anita Bagley, Hannah Blau, Leigh C Carmody, Amy Crandall, Daniel Daniš +7 more

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms

medRxiv(2023)10.1101/2023.03.30.23287948

N/A

0DataRank · unranked

7 citations

Marina T. DiStefano, Erin Rooney Riggs, Katherine Josephs, Fowzan S. Alkuraya, Joanna Amberger +21 more

Alternative splicing is coupled to gene expression in a subset of variably expressed genes

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.06.13.544742

N/A

0DataRank · unranked

1 citations

Robin Steinhaus, Daniel Daniš, Maëva Devoucoux, Olga Anczuków, Gloria Sheynkman +3 more

Predicting nutrition and environmental factors associated with female reproductive disorders using a knowledge graph and random forests

medRxiv(2023)10.1101/2023.07.14.23292679

N/A

0DataRank · unranked

1 citations

Elena Casiraghi, Tim Putman, Justin T Reese, Quaker E. Harmon, Kevin Schaper +9 more

An evaluation of GPT models for phenotype concept recognition

arXiv (Cornell University)(2023)10.48550/arxiv.2309.17169

N/A

0DataRank · unranked

1 citations

Harry Caufield, Dylan Gration, Gareth Baynam, Melissa A Haendel, Peter N. Robinson +3 more

KG-Hub -- Building and Exchanging Biological Knowledge Graphs

arXiv (Cornell University)(2023)10.48550/arxiv.2302.10800

N/A

0DataRank · unranked

0 citations

Tim Putman, Kevin Schaper, Deepak R Unni, Harshad Hegde, Tiffany J. Callahan +21 more

Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning

Bioinformatics(2024)10.1093/bioinformatics/btae104

N/A

0DataRank · unranked

105 citations

Harshad Hegde, Vincent Emonet, Nomi L. Harris, Marcin P. Joachimiak, Nicolas A Matentzoglu +7 more

FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontology

Bioinformatics(2024)10.1093/bioinformatics/btae406

N/A

0DataRank · unranked

12 citations

Dylan Gration, Gareth Baynam, Peter N. Robinson, Tudor Groza

From transcriptomics to digital twins of organ function

Frontiers in Cell and Developmental Biology(2024)10.3389/fcell.2024.1240384

N/A

0DataRank · unranked

12 citations

Abhinav R. Jain, Philip Nenov, Peter N. Robinson, Ravi Iyengar, Jens Hansen

Alternative splicing is coupled to gene expression in a subset of variably expressed genes

npj Genomic Medicine(2024)10.1038/s41525-024-00432-w

N/A

0DataRank · unranked

12 citations

Robin Steinhaus, Daniel Daniš, Maëva Devoucoux, Olga Anczuków, Gloria Sheynkman +3 more

Improving prenatal diagnosis through standards and aggregation

Prenatal Diagnosis(2024)10.1002/pd.6522

N/A

0DataRank · unranked

10 citations

Pilar Cacheiro, Julius O.B. Jacobsen, Jessica L. Giordano, Harrison Brand, Ronald J. Wapner +4 more

Speech and language classification in the human phenotype ontology

European Journal of Human Genetics(2024)10.1038/s41431-024-01635-6

N/A

0DataRank · unranked

6 citations

Ben D Coleman, Adam P. Vogel, Alisdair McNeill, Peter N. Robinson, Angela Morgan

Leveraging generative AI to assist biocuration of medical actions for rare disease

Bioinformatics Advances(2024)10.1093/bioadv/vbaf141

N/A

0DataRank · unranked

3 citations

J. Harry Caufield, Leigh C Carmody, Michael Gargano, Sabrina Toro, Patricia L. Whetzel +10 more

Association of post-COVID phenotypic manifestations with new-onset psychiatric disease

Translational Psychiatry(2024)10.1038/s41398-024-02967-z

N/A

0DataRank · unranked

5 citations

Elena Casiraghi, Tiffany J. Callahan, Hannah Blau, Lauren E Chan, Bryan Laraway +10 more

Predicting nutrition and environmental factors associated with female reproductive disorders using a knowledge graph and random forests

International Journal of Medical Informatics(2024)10.1016/j.ijmedinf.2024.105461

N/A

0DataRank · unranked

5 citations

Elena Casiraghi, Justin T Reese, Quaker E. Harmon, Kevin Schaper, Harshad Hegde +8 more

Associations of County-Level Social Determinants of Health with COVID-19 Related Hospitalization Among People with HIV: A Retrospective Analysis of the U.S. National COVID Cohort Collaborative (N3C)

AIDS and Behavior(2024)10.1007/s10461-024-04466-0

N/A

0DataRank · unranked

5 citations

Eric Hurwitz, Dongmei Li, Marlene Camacho‐Rivera, Jing Sun, Sandra E. Safo +79 more

Advances in risk predictive performance of pre-symptomatic type 1 diabetes via the multiplex Antibody-Detection-by-Agglutination-PCR assay

Frontiers in Endocrinology(2024)10.3389/fendo.2024.1340436

N/A

0DataRank · unranked

4 citations

Brigette Hinton, Felipe de Jesus Cortez, David Seftel, Peter N. Robinson, Cheng‐ting Tsai +1 more

Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization

Genetics in Medicine(2024)10.1016/j.gim.2024.101292

N/A

0DataRank · unranked

2 citations

Daniel Daniš, Yasemin Bridges, Julius O.B. Jacobsen, Damian Smedley, Peter N. Robinson +1 more

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools

medRxiv(2024)10.1101/2024.07.22.24310816

N/A

0DataRank · unranked

9 citations

Leonardo Chimirri, Yasemin Bridges, Daniel Daniš, J. Harry Caufield, Michael Gargano +16 more

CurateGPT: A flexible language-model assisted biocuration tool

arXiv (Cornell University)(2024)10.48550/arxiv.2411.00046

N/A

0DataRank · unranked

8 citations

Carlo Kroll, Shawn T. O’Neil, Justin T Reese, Marcin P. Joachimiak, Harshad Hegde +8 more

Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.06.13.598672

N/A

0DataRank · unranked

5 citations

Vinícius de Souza, Katherina G Cortes, Melissa A Haendel, Nomi L. Harris, Daniel Korn +10 more

Lethal phenotypes in Mendelian disorders

medRxiv(2024)10.1101/2024.01.12.24301168

N/A

0DataRank · unranked

2 citations

Samantha Lawson, Ignatia B. Van den Veyver, Gabriel Marengo, David Zocche, Stephen A. Murray +4 more

A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.04.18.590108

N/A

0DataRank · unranked

2 citations

Louisa Kalsner, Jessica Ewald, Michael Peracchio, Cameron King, Purva Vats +6 more

Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery

UNC Libraries(2024)10.17615/1tsk-ff12

N/A

0DataRank · unranked

0 citations

Amy Yates, Leigh C Carmody, Emily Pfaff, Christopher G. Chute, Hao Xu +25 more

Clinical Data: Sources and Types, Regulatory Constraints, Applications

UNC Libraries(2024)10.17615/a2ht-zp91

N/A

0DataRank · unranked

0 citations

Stanley C. Ahalt, Gustavo Glusman, Emily Pfaff, Peter N. Robinson, The Biomedical Data Translator Consortium +8 more

Replacing non-biomedical concepts improves embedding of biomedical concepts

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.07.01.601556

N/A

0DataRank · unranked

0 citations

Mauricio Soto, Elena Casiraghi, Stephan Antogiovanni, Hannah Blau, Justin T Reese +3 more

Mondo: integrating disease terminology across communities

Genetics(2025)10.1093/genetics/iyaf215

N/A

0DataRank · unranked

16 citations

Sabrina Toro, Nicolas A Matentzoglu, Joseph E Flack, Kathleen R. Mullen, Harshad Hegde +95 more

Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases

EBioMedicine(2025)10.1016/j.ebiom.2025.105957

N/A

0DataRank · unranked

8 citations

J. Harry Caufield, Yasemin Bridges, Nicolas A Matentzoglu, Michael Gargano, Mario Cazalla +25 more

Comparative Analysis of the Sensitivity, Specificity, Concordance, and 5-Year Predictive Power of Diabetes-Related Autoantibody Assays

Diabetes(2025)10.2337/db24-0814

N/A

0DataRank · unranked

7 citations

Sarah Müller, Lu You, Peter Achenbach, Elena Bazzigaluppi, Cristina Brigatti +10 more

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64006

N/A

0DataRank · unranked

4 citations

Louisa Kalsner, Jessica M. Ewald, Michael Peracchio, Cameron King, Purva Vats +6 more

Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework

BMC Bioinformatics(2025)10.1186/s12859-025-06105-4

N/A

0DataRank · unranked

5 citations

Vinícius de Souza, Katherina G Cortes, Melissa A Haendel, Nomi L. Harris, Daniel Korn +10 more

Integrating Knowledge: The Power of Ontologies in Psychiatric Research and Clinical Informatics

Biological Psychiatry(2025)10.1016/j.biopsych.2025.05.014

N/A

0DataRank · unranked

5 citations

Ben D Coleman, Eric Hurwitz, Peter N. Robinson, Andrew E. Williams, Melissa A Haendel +2 more

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis(2025)10.1002/pd.70039

N/A

0DataRank · unranked

2 citations

W. John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. Avram, Kristen A. Miller +13 more

The National COVID Cohort Collaborative (N3C): Rationale, design, infrastructure, and deployment

UNC Libraries(2025)10.17615/py27-pf96

Top 100%

0DataRank

Top 100%0 citations

Heidi Spratt, John Wilbanks, Amin Manna, Christopher P. Austin, Stephanie Hong +52 more

Replacing non-biomedical concepts improves embedding of biomedical concepts

PLoS ONE(2025)10.1371/journal.pone.0322498

N/A

0DataRank · unranked

0 citations

Mauricio Soto, Elena Casiraghi, Stephan Antogiovanni, Hannah Blau, Justin T Reese +3 more

An ITPR1 Variant in the IP3 ‐ ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64263

N/A

0DataRank · unranked

0 citations

Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita Bagley, Michael Gargano, Jeremy Bauer +8 more

Oncopacket: integration of cancer research data using GA4GH phenopackets

Bioinformatics(2025)10.1093/bioinformatics/btaf546

N/A

0DataRank · unranked

0 citations

Daniel Danis, Sagar Patil, Nobal Kishor, Rajdeep Mondal, Abhishek Jha +7 more

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npj Genomic Medicine(2025)10.1038/s41525-025-00534-z

N/A

0DataRank · unranked

0 citations

Filip Rehburg, Samer Alkarkoukly, Daniel Daniš, Ana Grönke, Miriam Hübner +23 more

Performance of Information Theory Derived Semantic Similarity Algorithms for Differential Diagnosis and Clustering

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.11.17.688933

N/A

0DataRank · unranked

0 citations

Daniel Daniš, Justin T Reese, Peter N. Robinson, Ben D Coleman

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npj Genomic Medicine(2024)10.1038/s41525-024-00456-2

N/A

0DataRank · unranked

20 citations

Julius O.B. Jacobsen, Susan Walker, Valentina Cipriani, Nomi L. Harris, Melissa A Haendel +4 more

The digital revolution in phenotyping

UNC Libraries(2020)10.17615/x6be-m741

N/A

0DataRank · unranked

0 citations

Nigel Collier, Tudor Groza, Dietrich Rebholz‐Schuhmann, Richard H. Scheuermann, Olivier Bodenreider +14 more

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.021

N/A

0DataRank · unranked

113 citations

Vida Ravanmehr, Julius O.B. Jacobsen, Daniel Daniš, Xingmin Aaron Zhang, Leigh C Carmody +10 more

parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants

GigaScience(2020)10.1093/gigascience/giaa052

N/A

0DataRank · unranked

15 citations

Marco Mesiti, Max Schubach, Marco Frasca, Daniel Daniš, Matteo Ré +6 more

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

Orphanet Journal of Rare Diseases(2020)10.1186/s13023-020-1313-0

N/A

0DataRank · unranked

34 citations

Hannah Blau, Daniel Daniš, Xingman A. Zhang, Jean-Philippe F. Gourdine, Nicole A. Vasilevsky +4 more

Ontologies, Knowledge Representation, and Machine Learning for Translational Research: Recent Contributions

Yearbook of Medical Informatics(2020)10.1055/s-0040-1701991

N/A

0DataRank · unranked

31 citations

Melissa A Haendel, Peter N. Robinson

A serological assay to detect SARS-CoV-2 antibodies in at-home collected finger-prick dried blood spots

medRxiv(2020)10.1101/2020.05.29.20116004

N/A

0DataRank · unranked

17 citations

Kenneth Danh, David Seftel, Peter N. Robinson, Cheng‐ting Tsai, Donna Grace Karp

parSMURF , a High Performance Computing tool for the genome-wide detection of pathogenic variants

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.03.18.994079

N/A

0DataRank · unranked

1 citations

Marco Mesiti, Max Schubach, Marco Frasca, Daniel Daniš, Matteo Ré +6 more

PhenoTagger: a hybrid method for phenotype concept recognition using human phenotype ontology

Bioinformatics(2021)10.1093/bioinformatics/btab019

N/A

0DataRank · unranked

78 citations

Shankai Yan, Po‐Ting Lai, Daniel Veltri, Andrew J. Oler, Sandhya Xirasagar +5 more

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.014

N/A

0DataRank · unranked

67 citations

Julius O.B. Jacobsen, Leigh C Carmody, Michael Gargano, Julie A. McMurry, Ayushi Hegde +5 more

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Cell Genomics(2021)10.1016/j.xgen.2021.100027

N/A

0DataRank · unranked

56 citations

Lawrence Babb, Gil Alterovitz, Michael Baudis, Matthew Brush, Daniel Cameron +23 more

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The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.09.014

N/A

0DataRank · unranked

15 citations

Julius O.B. Jacobsen, Leigh C Carmody, Michael Gargano, Julie A. McMurry, Ayushi Hegde +5 more

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BMJ Health & Care Informatics(2021)10.1136/bmjhci-2021-100331

N/A

0DataRank · unranked

15 citations

Nephi Walton, Lynn Feldman, Conner Jenkins, Troy Jenkins, Thomas N. Person +7 more

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NAR Genomics and Bioinformatics(2021)10.1093/nargab/lqab113

N/A

0DataRank · unranked

7 citations

Hannah Blau, Luca Cappelletti, Tommaso Fontana, Leigh C Carmody, Ben D Coleman +13 more

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medRxiv(2021)10.1101/2021.03.20.21253896

N/A

0DataRank · unranked

142 citations

Tellen D. Bennett, James Brian Byrd, Carolyn T. Bramante, Tiffany J. Callahan, Christopher G. Chute +17 more

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medRxiv(2021)10.1101/2021.04.13.21255438

N/A

0DataRank · unranked

18 citations

Ben D Coleman, Lauren E Chan, Hannah Blau, Tiffany J. Callahan, Luca Cappelletti +18 more

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medRxiv(2021)10.1101/2021.11.27.21266944

N/A

0DataRank · unranked

14 citations

Michael Baudis, Gareth Baynam, J. Beckmann, Sergi Beltrán, Tiffany J. Callahan +42 more

The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.01.15.426843

N/A

0DataRank · unranked

11 citations

Lawrence Babb, Gil Alterovitz, Michael Baudis, Matthew Brush, Daniel Cameron +22 more

SvAnna: efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.07.14.452267

N/A

0DataRank · unranked

2 citations

Julius O.B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin T Reese +9 more

Supervised learning with word embeddings derived from PubMed captures latent knowledge about protein kinases and cancer

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.06.11.447943

N/A

0DataRank · unranked

1 citations

Hannah Blau, Luca Cappelletti, Tommaso Fontana, Leigh C Carmody, Ben D Coleman +12 more

Betacoronavirus-specific alternate splicing

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.07.02.450920

N/A

0DataRank · unranked

0 citations

Bruce J. Aronow, Stephen B. Baylin, Daniel Butler, Jonathan Foox, Shawn Levy +9 more

Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmes

EBioMedicine(2022)10.1016/j.ebiom.2022.104413

N/A

0DataRank · unranked

180 citations

Hannah Blau, Elena Casiraghi, Timothy Bergquist, Johanna J. Loomba, Tiffany J. Callahan +39 more

Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease

Human Mutation(2022)10.1002/humu.24380

N/A

0DataRank · unranked

75 citations

Catherine Kelly, Valentina Cipriani, Christopher J. Mungall, Justin T Reese, Daniel Daniš +3 more

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2022)10.1002/ajmg.c.31989

N/A

0DataRank · unranked

52 citations

Patricia Morgan, Bimal P. Chaudhari, Isabel Filges, Teresa N. Sparks, Pablo Lapunzina +31 more

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Genome Medicine(2022)10.1186/s13073-022-01046-6

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0DataRank · unranked

42 citations

Julius O.B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin T Reese +9 more

Phenotype-aware prioritisation of rare Mendelian disease variants

Trends in Genetics(2022)10.1016/j.tig.2022.07.002

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0DataRank · unranked

33 citations

Anita Szabó, Nikolas Pontikos, Gavin Arno, Peter N. Robinson, Julius O.B. Jacobsen +3 more

NSAID use and clinical outcomes in COVID-19 patients: a 38-center retrospective cohort study

Virology Journal(2022)10.1186/s12985-022-01813-2

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0DataRank · unranked

31 citations

Ben D Coleman, Lauren E Chan, Hannah Blau, Tiffany J. Callahan, Luca Cappelletti +18 more

GA4GH Phenopackets: A Practical Introduction

Advanced Genetics(2022)10.1002/ggn2.202200016

N/A

0DataRank · unranked

20 citations

Julius O.B. Jacobsen, Alex H. Wagner, Daniel Daniš, Bahá El Kassaby, Michael Gargano +14 more

Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases

Briefings in Bioinformatics(2022)10.1093/bib/bbac188

N/A

0DataRank · unranked

15 citations

Catherine Kelly, Valentina Cipriani, Peter N. Robinson, Damian Smedley, Julius O.B. Jacobsen

Deep phenotyping: symptom annotation made simple with SAMS

Nucleic Acids Research(2022)10.1093/nar/gkac329

N/A

0DataRank · unranked

14 citations

Sebastian Proft, Evelyn Seelow, Tobias Schalau, Peter N. Robinson, Dominik Seelow +1 more

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice

Genetics in Medicine(2022)10.1016/j.gim.2022.03.013

N/A

0DataRank · unranked

7 citations

Nour Gazzaz, Stephanie Huynh, Julia Handra, Lynn Warnock, Ashley Moller‐Hansen +15 more

Generalizable Long COVID Subtypes: Findings from the NIH N3C and RECOVER Programs

medRxiv(2022)10.1101/2022.05.24.22275398

N/A

0DataRank · unranked

32 citations

Hannah Blau, Timothy Bergquist, Johanna J. Loomba, Tiffany J. Callahan, Bryan Laraway +25 more

GraPE: fast and scalable Graph Processing and Embedding

Research Square(2022)10.21203/rs.3.rs-967145/v1

N/A

0DataRank · unranked

5 citations

Tommaso Fontana, Elena Casiraghi, Vida Ravanmehr, Tiffany J. Callahan, Marcin P. Joachimiak +5 more

Metformin is Associated with Reduced COVID-19 Severity in Patients with Prediabetes

medRxiv(2022)10.1101/2022.08.29.22279355

N/A

0DataRank · unranked

1 citations

Elena Casiraghi, Bryan Laraway, Ben D Coleman, Hannah Blau, Adnin Zaman +10 more

Node-degree aware edge sampling mitigates inflated classification performance in biomedical graph representation learning

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.11.21.517376

N/A

0DataRank · unranked

1 citations

Lauren Rekerle, Tommaso Fontana, Peter Hansen, Elena Casiraghi, Vida Ravanmehr +12 more

Building Population Phenotypic Journeys from Laboratory Tests in Electronic Health Records for Translational Research

medRxiv(2022)10.1101/2022.10.10.22280880

N/A

0DataRank · unranked

0 citations

Kyeryoung Lee, Lan Jin, Zongzhi Liu, Lei Ai, Tomi Jun +8 more

Predictive models of long COVID

EBioMedicine(2023)10.1016/j.ebiom.2023.104777

N/A

0DataRank · unranked

37 citations

Hannah Blau, Elena Casiraghi, Johanna J. Loomba, Tiffany J. Callahan, Bryan Laraway +9 more

KG-Hub—building and exchanging biological knowledge graphs

Bioinformatics(2023)10.1093/bioinformatics/btad418

N/A

0DataRank · unranked

35 citations

Tim Putman, Kevin Schaper, Deepak R Unni, Harshad Hegde, Tiffany J. Callahan +21 more

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