Last Updated: 09/26/2026
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Found 18 publications
Case Report: Overwhelming Babesia Parasitemia Successfully Treated Promptly With RBC Apheresis and Triple Therapy With Clindamycin, Azithromycin, and Atovaquone.
Journal: Open forum infectious diseases
Published: August 05, 2020
ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.
Journal: Genes & development
Published: April 19, 2019
Diagnostic utility of telomere length testing in a hospital-based setting.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: February 22, 2018
Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma.
Journal: Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer
Published: July 14, 2017
Telomerase and the Genetics of Emphysema Susceptibility. Implications for Pathogenesis Paradigms and Patient Care.
Journal: Annals of the American Thoracic Society
Published: December 23, 2016
Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
Journal: American journal of human genetics
Published: November 15, 2016
Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema.
Journal: Science translational medicine
Published: April 03, 2016
Erratum. Radiation sensitivity and radiation necrosis in the short telomere syndromes.
Journal: International journal of radiation oncology, biology, physics
Published: February 09, 2016
Radiation Sensitivity and Radiation Necrosis in the Short Telomere Syndromes.
Journal: International journal of radiation oncology, biology, physics
Published: July 10, 2015
Last Updated: 09/26/2026