Publications by authors named "Kent Shefchek"

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Development of self-phenotyping tools to empower patients and improve diagnostics.
Kent Shefchek, Sonja I Ziniel, Julie A McMurry, Catherine A Brownstein, John S Brownstein

EBioMedicine· November 2025

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The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species.
Tim E Putman, Kevin Schaper, Nicolas Matentzoglu, Vincent P Rubinetti, Faisal S Alquaddoomi, Kent A Shefchek

Nucleic Acids Res· January 2024

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KG-Hub-building and exchanging biological knowledge graphs.
J Harry Caufield, Tim Putman, Kevin Schaper, Deepak R Unni, Harshad Hegde, Kent A Shefchek

Bioinformatics· July 2023

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Biolink Model: A universal schema for knowledge graphs in clinical, biomedical, and translational science.
Deepak R Unni, Sierra A T Moxon, Michael Bada, Matthew Brush, Richard Bruskiewich, Kent A Shefchek

Clin Transl Sci· August 2022

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The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.
Hui-Lin Chin, Nour Gazzaz, Stephanie Huynh, Iulia Handra, Lynn Warnock, Kent Shefchek

Genet Med· July 2022

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A Simple Standard for Sharing Ontological Mappings (SSSOM).
Nicolas Matentzoglu, James P Balhoff, Susan M Bello, Chris Bizon, Matthew Brush, Kent Shefchek

Database (Oxford)· May 2022

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Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.
Jianqiao Li, Margaret A Hojlo, Sampath Chennuri, Nitin Gujral, Heather L Paterson, Kent A Shefchek

J Med Internet Res· March 2021

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KG-COVID-19: A Framework to Produce Customized Knowledge Graphs for COVID-19 Response.
Justin T Reese, Deepak Unni, Tiffany J Callahan, Luca Cappelletti, Vida Ravanmehr, Kent A Shefchek

Patterns (N Y)· January 2021

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The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Kent A Shefchek, Nomi L Harris, Michael Gargano, Nicolas Matentzoglu, Deepak Unni

Nucleic Acids Res· January 2020

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Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery.
Jean-Philippe F Gourdine, Matthew H Brush, Nicole A Vasilevsky, Kent Shefchek, Sebastian Köhler

Database (Oxford)· January 2019

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Plain-language medical vocabulary for precision diagnosis.
Nicole A Vasilevsky, Erin D Foster, Mark E Engelstad, Leigh Carmody, Matt Might, Kent Shefchek

Nat Genet· April 2018

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The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Christopher J Mungall, Julie A McMurry, Sebastian Köhler, James P Balhoff, Charles Borromeo, Kent Shefchek

Nucleic Acids Res· January 2017

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Navigating the Phenotype Frontier: The Monarch Initiative.
Julie A McMurry, Sebastian Köhler, Nicole L Washington, James P Balhoff, Charles Borromeo, Kent Shefchek

Genetics· August 2016

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Use of model organism and disease databases to support matchmaking for human disease gene discovery.
Christopher J Mungall, Nicole L Washington, Jeremy Nguyen-Xuan, Christopher Condit, Damian Smedley, Kent Shefchek

Hum Mutat· October 2015

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Genome sequences of 65 Helicobacter pylori strains isolated from asymptomatic individuals and patients with gastric cancer, peptic ulcer disease, or gastritis.
Thomas G Blanchard, Steven J Czinn, Pelayo Correa, Teruko Nakazawa, Monika Keelan, Kent Shefchek

Pathog Dis· July 2013

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Genomic insights into the emerging human pathogen Mycobacterium massiliense.
Hervé Tettelin, Elizabeth P Sampaio, Sean C Daugherty, Erin Hine, David R Riley, Kent Shefchek

J Bacteriol· October 2012

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Genome sequence of Enterobacter radicincitans DSM16656(T), a plant growth-promoting endophyte.
Katja Witzel, Michelle Gwinn-Giglio, Suvarna Nadendla, Kent Shefchek, Silke Ruppel

J Bacteriol· October 2012

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