The short and long telomere syndromes: paired paradigms for molecular medicine
Stanley, Susan E, Armanios, Mary
Published in Current opinion in genetics & development (01.08.2015)
Published in Current opinion in genetics & development (01.08.2015)
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Journal Article
Synonymous Mutation in DKC1 Causes Telomerase RNA Insufficiency Manifesting as Familial Pulmonary Fibrosis
Gaysinskaya, Valeriya, Stanley, Susan E., Adam, Soheir, Armanios, Mary
Published in Chest (01.12.2020)
Published in Chest (01.12.2020)
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Journal Article
Telomere dysfunction causes alveolar stem cell failure
Alder, Jonathan K., Barkauskas, Christina E., Limjunyawong, Nathachit, Stanley, Susan E., Kembou, Frant, Tuder, Rubin M., Hogan, Brigid L. M., Mitzner, Wayne, Armanios, Mary
Published in Proceedings of the National Academy of Sciences - PNAS (21.04.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (21.04.2015)
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Journal Article
Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis
Alder, Jonathan K, Stanley, Susan E, Wagner, Christa L, Hamilton, Makenzie, Hanumanthu, Vidya Sagar, Armanios, Mary
Published in Chest (01.05.2015)
Published in Chest (01.05.2015)
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Journal Article
Diagnostic utility of telomere length testing in a hospital-based setting
Alder, Jonathan K., Hanumanthu, Vidya Sagar, Strong, Margaret A., DeZern, Amy E., Stanley, Susan E., Takemoto, Clifford M., Danilova, Ludmila, Applegate, Carolyn D., Bolton, Stephen G., Mohr, David W., Brodsky, Robert A., Casella, James F., Greider, Carol W., Jackson, J. Brooks, Armanios, Mary
Published in Proceedings of the National Academy of Sciences - PNAS (06.03.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (06.03.2018)
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Journal Article
ZCCHC8 , the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation
Gable, Dustin L, Gaysinskaya, Valeriya, Atik, Christine C, Talbot, Jr, C Conover, Kang, Byunghak, Stanley, Susan E, Pugh, Elizabeth W, Amat-Codina, Nuria, Schenk, Kara M, Arcasoy, Murat O, Brayton, Cory, Florea, Liliana, Armanios, Mary
Published in Genes & development (01.10.2019)
Published in Genes & development (01.10.2019)
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Journal Article
Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema
Stanley, Susan E, Gable, Dustin L, Wagner, Christa L, Carlile, Thomas M, Hanumanthu, Vidya Sagar, Podlevsky, Joshua D, Khalil, Sara E, DeZern, Amy E, Rojas-Duran, Maria F, Applegate, Carolyn D, Alder, Jonathan K, Parry, Erin M, Gilbert, Wendy V, Armanios, Mary
Published in Science translational medicine (10.08.2016)
Published in Science translational medicine (10.08.2016)
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Journal Article
Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma
Parry, Erin M., Gable, Dustin L., Stanley, Susan E., Khalil, Sara E., Antonescu, Valentin, Florea, Liliana, Armanios, Mary
Published in Journal of thoracic oncology (01.11.2017)
Published in Journal of thoracic oncology (01.11.2017)
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Journal Article
Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders
Gorgy, Amany I, Jonassaint, Naudia L, Stanley, Susan E, Koteish, Ayman, DeZern, Amy E, Walter, Jolan E, Sopha, Sabrina C, Hamilton, James P, Hoover-Fong, Julie, Chen, Allen R, Anders, Robert A, Kamel, Ihab R, Armanios, Mary
Published in Chest (01.10.2015)
Published in Chest (01.10.2015)
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Journal Article
Telomerase mutations in smokers with severe emphysema
Stanley, Susan E, Chen, Julian J L, Podlevsky, Joshua D, Alder, Jonathan K, Hansel, Nadia N, Mathias, Rasika A, Qi, Xiaodong, Rafaels, Nicholas M, Wise, Robert A, Silverman, Edwin K, Barnes, Kathleen C, Armanios, Mary
Published in The Journal of clinical investigation (01.02.2015)
Published in The Journal of clinical investigation (01.02.2015)
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Journal Article
Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites
Lee, Melissa, Roos, Patrick, Sharma, Neeraj, Atalar, Melis, Evans, Taylor A., Pellicore, Matthew J., Davis, Emily, Lam, Anh-Thu N., Stanley, Susan E., Khalil, Sara E., Solomon, George M., Walker, Doug, Raraigh, Karen S., Vecchio-Pagan, Briana, Armanios, Mary, Cutting, Garry R.
Published in American journal of human genetics (04.05.2017)
Published in American journal of human genetics (04.05.2017)
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Journal Article
Spontaneous intramedullary abscesses caused by Streptococcus anginosus: two case reports and review of the literature
Cerecedo-Lopez, Christian D, Bernstock, Joshua D, Dmytriw, Adam A, Chen, Jason A, Chalif, Joshua I, Gupta, Saksham, Driver, Joseph, Huang, Kevin, Stanley, Susan E, Li, Jonathan Z, Chi, John, Lu, Yi
Published in BMC infectious diseases (10.02.2022)
Published in BMC infectious diseases (10.02.2022)
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Journal Article
Radiation Sensitivity and Radiation Necrosis in the Short Telomere Syndromes
Stanley, Susan E., BS, Rao, Avani Dholakia, MD, Gable, Dustin L., BS, McGrath-Morrow, Sharon, MD, Armanios, Mary, MD
Published in International journal of radiation oncology, biology, physics (01.12.2015)
Published in International journal of radiation oncology, biology, physics (01.12.2015)
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Journal Article
What the genetics "RTEL"ing us about telomeres and pulmonary fibrosis
Stanley, Susan E, Noth, Imre, Armanios, Mary
Published in American journal of respiratory and critical care medicine (15.03.2015)
Published in American journal of respiratory and critical care medicine (15.03.2015)
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Journal Article
Altered hepatic triglyceride content after partial hepatectomy without impaired liver regeneration in multiple murine genetic models
Newberry, Elizabeth P., Kennedy, Susan M., Xie, Yan, Luo, Jianyang, Stanley, Susan E., Semenkovich, Clay F., Crooke, Roseanne M., Graham, Mark J., Davidson, Nicholas O.
Published in Hepatology (Baltimore, Md.) (01.10.2008)
Published in Hepatology (Baltimore, Md.) (01.10.2008)
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Journal Article
Cleome, a genus closely related to Arabidopsis, contains species spanning a developmental progression from C₃ to C₄ photosynthesis
Marshall, Diana M, Muhaidat, Riyadh, Brown, Naomi J, Liu, Zheng, Stanley, Susan, Griffiths, Howard, Sage, Rowan F, Hibberd, Julian M
Published in The Plant journal : for cell and molecular biology (01.09.2007)
Published in The Plant journal : for cell and molecular biology (01.09.2007)
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Journal Article