Publications by authors named "Andrew Oler"

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Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets.
Sebastian Ochoa, Andrew J Oler, Ivan K Chinn, Michail S Lionakis

J Allergy Clin Immunol· December 2025

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Basic Science and Pathogenesis.
Mari J Tokita, Justin Y Kwan, Andrew J Oler, Laura E Danielian, Jody Crook

Alzheimers Dement· December 2025

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IL12RB1 deficiency appearing in North America: expanding the clinical phenotypes.
Chen Wang, Beatriz E Marciano, Annalie J Harris, Alicia M Johnston, Evsen Apaydin Arikan, Andrew J Oler

Clin Infect Dis· November 2025

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Interferon-γ therapy in patients with refractory disseminated coccidioidomycosis.
Chen Wang, Brenna A LaBere, Michell M Lozano Chinga, Annalie J Harris, Lindsey B Rosen, Andrew J Oler

Clin Infect Dis· May 2025

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Splice site and de novo variants can cause PLCG2-associated immune dysregulation with cold urticaria.
Sophia R Chou, Alexis C Bailey, Kathleen Baysac, Andrew J Oler, Joshua D Milner

J Allergy Clin Immunol· March 2025

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Deep Screening for X Chromosome Parent-of-Origin Effects on Neurobehavioral and Neuroanatomical Phenotypes in 47,XXY Klinefelter Syndrome.
Isabella G Larsen, Rachel Gore Moses, Bryce A Seifert, Siyuan Liu, Samuel Li, Andrew J Oler

Biol Psychiatry Glob Open Sci· November 2024

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A deep intronic splice-altering variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.
Sebastian Ochoa, Amy P Hsu, Andrew J Oler, Dhaneshwar Kumar, Daniel Chauss

Sci Transl Med· September 2024

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Germline mutations in a G protein identify signaling cross-talk in T cells.
Hyoungjun Ham, Huie Jing, Ian T Lamborn, Megan M Kober, Alexey Koval, Andrew J Oler

Science· September 2024

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Perturbations of the T-cell receptor repertoire in response to SARS-CoV-2 in immunocompetent and immunocompromised individuals.
Ottavia M Delmonte, Cihan Oguz, Kerry Dobbs, Katherine Myint-Hpu, Boaz Palterer, Andrew J Oler

J Allergy Clin Immunol· June 2024

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Splice site and mutations can cause mixed dominant negative/gain of function -associated immune dysregulation with cold urticaria (CU-PLAID).
Sophia R Chou, Alexis C Bailey, Kathleen Baysac, Andrew J Oler, Joshua D Milner

medRxiv· March 2024

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Norovirus evolves as one or more distinct clonal populations in immunocompromised hosts.
Natthawan Chaimongkol, Nathânia Dábilla, Kentaro Tohma, Yuki Matsushima, Allison Behrle Yardley, Andrew J Oler

mBio· December 2023

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Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
Jonas Johannes Papendorf, Frédéric Ebstein, Sara Alehashemi, Daniela Gerent Petry Piotto, Anna Kozlova, Andrew J Oler

Front Immunol· August 2023

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Genomics of PDGFR-rearranged hypereosinophilic syndrome.
Esther Rheinbay, Meifang Qi, Juliette M Bouyssou, Andrew J Oler, Lauren Thumm

Blood Adv· June 2023

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Lack of Evidence for a Role of ACE-2 Polymorphisms as a Bedside Clinical Prognostic Marker of COVID-19.
Josè R Fiore, Mariantonietta Di Stefano, Andrew Oler, Yu Zhang, Jingwen Gu

Viruses· June 2023

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Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.
Breanna J Beers, Morgan N Similuk, Rajarshi Ghosh, Bryce A Seifert, Leila Jamal, Andrew J Oler

Front Immunol· May 2023

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Immunogenetics associated with severe coccidioidomycosis.
Amy P Hsu, Agnieszka Korzeniowska, Cynthia C Aguilar, Jingwen Gu, Eric Karlins, Andrew J Oler

JCI Insight· November 2022

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Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis.
Rebecca A Drummond, Jigar V Desai, Amy P Hsu, Vasileios Oikonomou, Donald C Vinh, Andrew J Oler

J Clin Invest· November 2022

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Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
Morgan N Similuk, Jia Yan, Rajarshi Ghosh, Andrew J Oler, Luis M Franco

J Allergy Clin Immunol· October 2022

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Susceptibility to kidney fibrosis in mice is associated with early growth response-2 protein and tissue inhibitor of metalloproteinase-1 expression.
Gábor Kökény, Ágnes Németh, Jeffrey B Kopp, Weiping Chen, Andrew J Oler

Kidney Int· August 2022

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Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19.
Carmelo Carmona-Rivera, Yu Zhang, Kerry Dobbs, Tovah E Markowitz, Clifton L Dalgard, Andrew J Oler

JCI Insight· August 2022

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PhenoRerank: A re-ranking model for phenotypic concept recognition pre-trained on human phenotype ontology.
Shankai Yan, Ling Luo, Po-Ting Lai, Daniel Veltri, Andrew J Oler

J Biomed Inform· May 2022

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Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19.
Carmelo Carmona-Rivera, Yu Zhang, Kerry Dobbs, Tovah E Markowitz, Clifton L Dalgard, Andrew J Oler

medRxiv· March 2022

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Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.
Satoshi Kubo, Jill M Fritz, Hayley M Raquer-McKay, Rhea Kataria, Ivan Vujkovic-Cvijin, Andrew J Oler

Nat Immunol· January 2022

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Patterns of Coevolutionary Adaptations across Time and Space in Mouse Gammaretroviruses and Three Restrictive Host Factors.
Guney Boso, Oscar Lam, Devinka Bamunusinghe, Andrew J Oler, Kurt Wollenberg

Viruses· September 2021

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Genome-wide association study in patients with pulmonary complex disease.
Ho Namkoong, Yosuke Omae, Takanori Asakura, Makoto Ishii, Shoji Suzuki, Andrew J Oler

Eur Respir J· August 2021

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