Publications by authors named "Jonathan Shortt"

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Expanding the genetic landscape of endometriosis: Integrative -omics analyses implicate key genes and pathways in a multi-ancestry study of over one million women.
Shefali Verma, Lindsay Guare, Jagyashila Das, Lannawill Caruth, Ananya Rajagopalan, Jonathan Shortt

Res Sq· December 2025

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Dysregulated Fatty Acid Metabolism in Preeclampsia Among Highland Andeans: Insights Into Adaptive and Maladaptive Placental Metabolic Phenotypes.
Katie A O'Brien, Lilian Toledo-Jaldin, Wanjun Gu, Julie A Houck, Litzi Lazo-Vega, Jonathan Shortt

FASEB J· November 2025

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Polygenic risk score for type 2 diabetes shows context-dependent effects across populations.
Boya Guo, Yanwei Cai, Daeeun Kim, Roelof A J Smit, Zhe Wang, Jonathan Shortt

Nat Commun· October 2025

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Enabling reproducible type 1 diabetes polygenic risk scoring for clinical and translational applications.
Maizy S Brasher, Matthew J Fisher, Carolina Sanchez Wild, Jonathan A Shortt, Krista Miller

medRxiv· July 2025

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Ancestry Calibration of Polygenic Risk Scores Improves Risk Stratification and Effect Estimation in African American Adults.
Luciana B Vargas, Mariah C Meyer, Iain R Konigsberg, Aastha Kakar, Patrick M Carry, Jonathan A Shortt

medRxiv· June 2025

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Global multi-ancestry genetic study elucidates genes and biological pathways associated with thyroid cancer and benign thyroid diseases.
Samantha L White, Maizy S Brasher, Jack Pattee, Wei Zhou, Sinéad Chapman, Jonathan Shortt

medRxiv· May 2025

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Pharmacogenomics of chemotherapy induced peripheral neuropathy using an electronic health record-derived definition: a genome-wide association study.
Michael K Jones, Andrew Nicklawsky, Jonathan Shortt, Jack Pattee, Victoria Kennerley

Support Care Cancer· April 2025

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Prevalence of Pathogenic Transthyretin Gene Variants in the Rocky Mountain Region.
Ellie Jacoby, Dianna Quan, Emily Todd, Jonathan Shortt, Harry Smith

Muscle Nerve· February 2025

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Type 2 diabetes polygenic risk score demonstrates context-dependent effects and associations with type 2 diabetes-related risk factors and complications across diverse populations.
Boya Guo, Yanwei Cai, Daeeun Kim, Roelof A J Smit, Zhe Wang, Jonathan Shortt

medRxiv· February 2025

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Pharmacogenomics of the Etonogestrel Contraceptive Implant: A Genome-Wide Association Study of Steady-State Etonogestrel Concentrations.
Aaron Lazorwitz, Christina L Aquilante, Jonathan A Shortt, Christopher R Gignoux, Stephanie Teal

O G Open· February 2025

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GenoSiS: A Biobank-Scale Genotype Similarity Search Architecture for Creating Dynamic Patient-Match Cohorts.
Kristen Schneider, Murad Chowdhury, Mariano Tepper, Jawad Khan, , Jonathan A Shortt

bioRxiv· November 2024

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Expanding the genetic landscape of endometriosis: Integrative -omics analyses uncover key pathways from a multi-ancestry study of over 900,000 women.
Lindsay A Guare, Jagyashila Das, Lannawill Caruth, Ananya Rajagopalan, Alexis T Akerele, Jonathan Shortt

medRxiv· November 2024

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Admix-kit: an integrated toolkit and pipeline for genetic analyses of admixed populations.
Kangcheng Hou, Stephanie Gogarten, Joohyun Kim, Xing Hua, Julie-Alexia Dias, Jonathan Shortt

Bioinformatics· March 2024

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Genomic Selection Signals in Andean Highlanders Reveal Adaptive Placental Metabolic Phenotypes That Are Disrupted in Preeclampsia.
Katie A O'Brien, Wanjun Gu, Julie A Houck, Lorenz M W Holzner, Hong Wa Yung, Jonathan A Shortt

Hypertension· February 2024

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Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.
Valeria Lo Faro, Arjun Bhattacharya, Wei Zhou, Dan Zhou, Ying Wang, Jonathan Shortt

Cell Rep Med· February 2024

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Thyroid Cancer Polygenic Risk Score Improves Classification of Thyroid Nodules as Benign or Malignant.
Nikita Pozdeyev, Manjiri Dighe, Martin Barrio, Christopher Raeburn, Harry Smith, Jonathan A Shortt

J Clin Endocrinol Metab· January 2024

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Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine.
Laura K Wiley, Jonathan A Shortt, Emily R Roberts, Jan Lowery, Elizabeth Kudron

Am J Hum Genet· January 2024

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Admix-kit: An Integrated Toolkit and Pipeline for Genetic Analyses of Admixed Populations.
Kangcheng Hou, Stephanie Gogarten, Joohyun Kim, Xing Hua, Julie-Alexia Dias, Jonathan Shortt

bioRxiv· October 2023

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Altered placental ion channel gene expression in preeclamptic high-altitude pregnancies.
Colleen G Julian, Julie A Houck, Sahand Fallahi, Litzi Lazo-Vega, Christopher J Matarazzo, Jonathan A Shortt

Physiol Genomics· September 2023

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Disease risk and healthcare utilization among ancestrally diverse groups in the Los Angeles region.
Christa Caggiano, Arya Boudaie, Ruhollah Shemirani, Joel Mefford, Ella Petter, Jonathan A Shortt

Nat Med· July 2023

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COVID-19 Mortality in the Colorado Center for Personalized Medicine Biobank.
Amanda N Brice, Lauren A Vanderlinden, Katie M Marker, David Mayer, Meng Lin, Jonathan A Shortt

Int J Environ Res Public Health· January 2023

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Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.
Wei Zhou, Masahiro Kanai, Kuan-Han H Wu, Humaira Rasheed, Kristin Tsuo, Jonathan A Shortt

Cell Genom· October 2022

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COVID-19 Surveillance in the Biobank at the Colorado Center for Personalized Medicine: Observational Study.
Randi K Johnson, Katie M Marker, David Mayer, Jonathan Shortt, David Kao

JMIR Public Health Surveill· June 2022

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Allele imputation for the killer cell immunoglobulin-like receptor KIR3DL1/S1.
Genelle F Harrison, Laura Ann Leaton, Erica A Harrison, Katherine M Kichula, Marte K Viken, Jonathan Shortt

PLoS Comput Biol· February 2022

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Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
Emily Mira Warshauer, Adam Brown, Ignacia Fuentes, Jonathan Shortt, Chris Gignoux

Am J Med Genet A· November 2021

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