PMC Links for Books (Select 1497302) - PMC

Margaret L. Salisbury, Justin C. Hewlett, Guixiao Ding, Cheryl R. Markin, Katrina Douglas, Wendi Mason, Adam Guttentag, John A. Phillips, III, Joy D. Cogan, Sara Reiss, Daphne B. Mitchell, Pingsheng Wu, Lisa R. Young, Lisa H. Lancaster, James E. Loyd, Stephen M. Humphries, David A. Lynch, Jonathan A. Kropski, Timothy S. Blackwell

Am J Respir Crit Care Med. 2020 May 15; 201(10): 1230–1239. Published online 2020 May 15. doi: 10.1164/rccm.201909-1834OC

PMCID:: PMC7233345

Article PDF–884K

Select item 65557004.

Pathogenic TERT promoter variants in telomere diseases

Fernanda Gutierrez-Rodrigues, Flávia S. Donaires, André Pinto, Alana Vicente, Laura W. Dillon, Diego V. Clé, Barbara A. Santana, Mehdi Pirooznia, Maria del Pilar F. Ibanez, Danielle M. Townsley, Sachiko Kajigaya, Christopher S. Hourigan, James N. Cooper, Rodrigo T. Calado, Neal S. Young

Genet Med. 2019; 21(7): 1594–1602. Published online 2018 Dec 7. doi: 10.1038/s41436-018-0385-x

PMCID:: PMC6555700

Article PDF–827K

Select item 64878505.

Analysis of protein-altering variants in telomerase genes and their association with MUC5B common variant status in patients with idiopathic pulmonary fibrosis: a candidate gene sequencing study.

Amy Dressen, Alexander R. Abbas, Christopher Cabanski, Janina Reeder, Thirumalai R. Ramalingam, Margaret Neighbors, Tushar R. Bhangale, Matthew J. Brauer, Julie Hunkapiller, Jens Reeder, Kiran Mukhyala, Karen Cuenco, Jennifer Tom, Amy Cowgill, Jan Vogel, William F. Forrest, Harold R. Collard, Paul J. Wolters, Jonathan A. Kropski, Lisa H. Lancaster, Timothy S. Blackwell, Joseph R. Arron, Brian L. Yaspan

Lancet Respir Med. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: Lancet Respir Med. 2018 Aug; 6(8): 603–614. Published online 2018 Jun 18. doi: 10.1016/S2213-2600(18)30135-8

PMCID:: PMC6487850

Article PDF–1.5M

Select item 64231036.

Homozygous Rare PARN Missense Mutation in Familial Pulmonary Fibrosis

David Zhang, Zhengyang Zhou, Muhanned Abu-Hijleh, Kiran Batra, Chao Xing, Christine Kim Garcia

Am J Respir Crit Care Med. 2019 Mar 15; 199(6): 797–799. Published online 2019 Mar 15. doi: 10.1164/rccm.201809-1632LE

PMCID:: PMC6423103

Article PDF–619K

Select item 63639707.

Impaired Cytomegalovirus Immunity in Idiopathic Pulmonary Fibrosis Lung Transplant Recipients with Short Telomeres

Iulia Popescu, Hannah Mannem, Spencer A. Winters, Aki Hoji, Fernanda Silveira, Emily McNally, Matthew R. Pipeling, Elizabeth A. Lendermon, Matthew R. Morrell, Joseph M. Pilewski, Vidya Sagar Hanumanthu, Yingze Zhang, Swati Gulati, Pali D. Shah, Carlo J. Iasella, Christopher R. Ensor, Mary Armanios, John F. McDyer

Am J Respir Crit Care Med. 2019 Feb 1; 199(3): 362–376. Published online 2019 Feb 1. doi: 10.1164/rccm.201805-0825OC

PMCID:: PMC6363970

Article PDF–1.2M

Select item 61711468.

Characteristics of lung cancer among patients with idiopathic pulmonary fibrosis and interstitial lung disease – analysis of institutional and population data

Joo Heung Yoon, Mehdi Nouraie, Xiaoping Chen, Richard H Zou, Jacobo Sellares, Kristen L Veraldi, Jared Chiarchiaro, Kathleen Lindell, David O Wilson, Naftali Kaminski, Timothy Burns, Humberto Trejo Bittar, Samuel Yousem, Kevin Gibson, Daniel J Kass

Respir Res. 2018; 19: 195. Published online 2018 Oct 3. doi: 10.1186/s12931-018-0899-4

PMCID:: PMC6171146

Article PDF–814K

Select item 54707519.

Genetic Evaluation and Testing of Patients and Families with Idiopathic Pulmonary Fibrosis

Jonathan A. Kropski, Lisa R. Young, Joy D. Cogan, Daphne B. Mitchell, Lisa H. Lancaster, John A. Worrell, Cheryl Markin, Na Liu, Wendi R. Mason, Tasha E. Fingerlin, David A. Schwartz, William E. Lawson, Timothy S. Blackwell, John A. Phillips, III, James E. Loyd

Am J Respir Crit Care Med. 2017 Jun 1; 195(11): 1423–1428. Published online 2017 Jun 1. doi: 10.1164/rccm.201609-1820PP

PMCID:: PMC5470751

Article PDF–532K

Select item 543334810.

Chad A. Newton, Kiran Batra, Jose Torrealba, Julia Kozlitina, Craig S. Glazer, Carlos Aravena, Keith Meyer, Ganesh Raghu, Harold R. Collard, Christine Kim Garcia

Eur Respir J. Author manuscript; available in PMC 2017 May 16.

Published in final edited form as: Eur Respir J. 2016 Dec; 48(6): 1710–1720. Published online 2016 Aug 18. doi: 10.1183/13993003.00308-2016

PMCID:: PMC5433348

Article PDF–1.1M

Select item 538279811.

Clinical Outcomes of Lung Transplantation in Patients with Telomerase Mutations

Sofya Tokman, Jonathan P. Singer, Megan S. Devine, Glen P. Westall, John-David Aubert, Michael Tamm, Gregory I. Snell, Joyce S. Lee, Hilary J. Goldberg, Jasleen Kukreja, Jeffrey A. Golden, Lorriana E. Leard, Christine K. Garcia, Steven R. Hays

J Heart Lung Transplant. Author manuscript; available in PMC 2017 Apr 6.

Published in final edited form as: J Heart Lung Transplant. 2015 Oct; 34(10): 1318–1324. Published online 2015 May 11. doi: 10.1016/j.healun.2015.05.002

PMCID:: PMC5382798

Article PDF–330K

Select item 535181112.

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis–emphysema

Susan E. Stanley, Dustin L. Gable, Christa L. Wagner, Thomas M. Carlile, Vidya Sagar Hanumanthu, Joshua D. Podlevsky, Sara E. Khalil, Amy E. DeZern, Maria F. Rojas-Duran, Carolyn D. Applegate, Jonathan K. Alder, Erin M. Parry, Wendy V. Gilbert, Mary Armanios

Sci Transl Med. Author manuscript; available in PMC 2017 Aug 10.

Published in final edited form as: Sci Transl Med. 2016 Aug 10; 8(351): 351ra107. doi: 10.1126/scitranslmed.aaf7837

PMCID:: PMC5351811

Article PDF–1.9M

Select item 533073513.

Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations

Lindley Maryoung, Yangbo Yue, Ashley Young, Chad A. Newton, Cindy Barba, Nicolai S.C. van Oers, Richard C. Wang, Christine Kim Garcia

J Clin Invest. 2017 Mar 1; 127(3): 982–986. Published online 2017 Feb 13. doi: 10.1172/JCI91161

PMCID:: PMC5330735

Article PDF–711K

Select item 473192514.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Article PDF–1.6M

Select item 459462115.

Hepatopulmonary Syndrome Is a Frequent Cause of Dyspnea in the Short Telomere Disorders

Amany I. Gorgy, Naudia L. Jonassaint, Susan E. Stanley, Ayman Koteish, Amy E. DeZern, Jolan E. Walter, Sabrina C. Sopha, James P. Hamilton, Julie Hoover-Fong, Allen R. Chen, Robert A. Anders, Ihab R. Kamel, Mary Armanios

Chest. 2015 Oct; 148(4): 1019–1026. Published online 2015 Jul 9. doi: 10.1378/chest.15-0825

PMCID:: PMC4594621

Article PDF–1.6M

Select item 454475316.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 445170917.

Short Telomeres, Telomeropathy, and Subclinical Extrapulmonary Organ Damage in Patients With Interstitial Lung Disease

Gautam George, Ivan O. Rosas, Ye Cui, Caitlin McKane, Gary M. Hunninghake, Phillip C. Camp, Benjamin A. Raby, Hilary J. Goldberg, Souheil El-Chemaly

Chest. 2015 Jun; 147(6): 1549–1557. Published online 2014 Nov 13. doi: 10.1378/chest.14-0631

PMCID:: PMC4451709

Article PDF–749K

Select item 442018418.

Exome Sequencing Identifies Mutant TINF2 in a Family With Pulmonary Fibrosis

Jonathan K. Alder, Susan E. Stanley, Christa L. Wagner, Makenzie Hamilton, Vidya Sagar Hanumanthu, Mary Armanios

Chest. 2015 May; 147(5): 1361–1368. Published online 2014 Dec 24. doi: 10.1378/chest.14-1947

PMCID:: PMC4420184

Article PDF–1.5M

Select item 431941719.

Telomerase mutations in smokers with severe emphysema

Susan E. Stanley, Julian J.L. Chen, Joshua D. Podlevsky, Jonathan K. Alder, Nadia N. Hansel, Rasika A. Mathias, Xiaodong Qi, Nicholas M. Rafaels, Robert A. Wise, Edwin K. Silverman, Kathleen C. Barnes, Mary Armanios

J Clin Invest. 2015 Feb 2; 125(2): 563–570. Published online 2014 Dec 22. doi: 10.1172/JCI78554

PMCID:: PMC4319417

Article PDF–4.3M

Select item 407741420.

A Novel Dyskerin (DKC1) Mutation Is Associated With Familial Interstitial Pneumonia

Jonathan A. Kropski, Daphne B. Mitchell, Cheryl Markin, Vasiliy V. Polosukhin, Leena Choi, Joyce E. Johnson, William E. Lawson, John A. Phillips, III, Joy D. Cogan, Timothy S. Blackwell, James E. Loyd

Chest. 2014 Jul; 146(1): e1–e7. Published online 2014 Feb 6. doi: 10.1378/chest.13-2224

PMCID:: PMC4077414

Article PDF–1.1M

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