Publications by authors named "Tyra Estwick"

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Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program.
Dee Adedipe, Audrey Thurm, Lisa Joseph, Maria T Acosta, Ellen F Macnamara, Tyra Estwick

Am J Med Genet B Neuropsychiatr Genet· December 2025

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Prime Editing for p47-Deficient Chronic Granulomatous Disease.
Jennifer L Gori, Elie Haddad, Haydar Frangoul, Donald B Kohn, Emma C Morris, Tyra Estwick

N Engl J Med· December 2025

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Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program.
Ellen F Macnamara, Amelia Loydpierson, Yvonne L Latour, Precilla D'Souza, Jennifer Murphy, Tyra Estwick

Mol Genet Metab· November 2023

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Lentivector cryptic splicing mediates increase in CD34+ clones expressing truncated HMGA2 in human X-linked severe combined immunodeficiency.
Suk See De Ravin, Siyuan Liu, Colin L Sweeney, Julie Brault, Narda Whiting-Theobald, Tyra Estwick

Nat Commun· June 2022

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Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
Ellen F Macnamara, Alanna E Koehler, Precilla D'Souza, Tyra Estwick, Paul Lee

Hum Mutat· May 2019

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Assessment of atherosclerosis in chronic granulomatous disease.
Christopher T Sibley, Tyra Estwick, Anna Zavodni, Chiung-Yu Huang, Alan C Kwan

Circulation· December 2014

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B-cell activating factor (BAFF) is elevated in chronic granulomatous disease.
Kabir Matharu, Kol A Zarember, Beatriz E Marciano, Douglas B Kuhns, Christine Spalding, Tyra Estwick

Clin Immunol· August 2013

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Skin ulcers and disseminated abscesses are characteristic of Serratia marcescens infection in older patients with chronic granulomatous disease.
Julia C Friend, Dianne M Hilligoss, Martha Marquesen, Jean Ulrick, Tyra Estwick

J Allergy Clin Immunol· July 2009

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