Selected Publications

Discovery of Lung Disease Genes

  • Graham RB, Nolasco M, Peterlin B, Garcia CK. Nonsense mutations in folliculin presenting as isolated spontaneous pneumothorax in adults. Am J Resp Crit Care Med. 2005 Jul 1; 172(1):39-44. PubMed PMID: 15805188.
  • Tsakiri KD, Cronkhite JT, Kuan PJ, Xing C, Raghu G, Weissler JC, Rosenblatt RL, Shay JW, Garcia CK. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci U S A. 2007 May 1; 104(18):7552-7. PubMed PMID: 17460043.
  • Wang Y, Kuan PJ, Chao X, Cronkhite JT, Torres F, Rosenblatt RL, DiMaio JM, Kinch LN, Grishin NV, Garcia CK. Genetic defects in surfactant protein A2 associated with pulmonary fibrosis and lung cancer. Am J Hum Genet. 2009 Jan; 84(1):52-9. PubMed PMID: 19100526.
  • Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, and Garcia CK. Exome Sequencing Links Mutations in PARN and RTEL1 with Familial Pulmonary Fibrosis and Telomere Shortening. Nat. Genet., 2015, 47(5): 512-7. PMID: 25848748. Commentary: Lancet Respir. Med. 3:428 (2015).
  • Zhang D, Povysil G, Kobeissy PH, Li Q, Wang B, Amelotte M, Jaouadi H, Newton CA, Maher TM, Molyneaux PL, Noth I, Todd JL, Palmer SM, Haefliger C, Platt A, Petrovski S, Garcia JA, Goldstein DB, Garcia CK. Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis. Am J Resp Crit Care Med. 2022, April 13. doi: 10.1164/rccm.202110-2439OC. Online ahead of print. PMID: 35417304.

Using Human Kindreds and Cohorts with Interstitial Lung Disease to Translate Genetic Discoveries

  • Diaz de Leon A, Cronkhite JT, Yilmaz C, Brewington C, Wang R, Xing C, Hsia CCW and Garcia CK. Subclinical Lung Disease, Macrocytosis and Premature Graying in Kindreds with Telomerase (TERT) Mutations. Chest 2011 Sep; 140(3):753-63. PMID: 21349926.
  • Newton CA, Batra K, Torrealba J, Kozlitina J, Glazer CS, Aravena C, Meyer K, Raghu G, Collard HR and Garcia CK. Telomere-Related Lung Fibrosis is Diagnostically Heterogeneous but Uniformly Progressive, Eur Respir J. 2016 Dec; 48(6): 1710-1720; PMID: 27540018.
  • Stuart BD, Lee JS, Kozlitina J, Noth I, Devine MS, Glazer CS, Torres F, Kaza V, Girod CE, Jones KD, Elicker BM, Ma S-F, Vij R, Collard HR, Wolters PJ and Garcia CK. Effect of telomere length on survival in idiopathic pulmonary fibrosis: an observational study with independent validation. Lancet Respir Med. 2014 Jul; 2(7): 557-65. PMID: 24948432. Commentaries: Lancet Respir. Med. 2:513-4 (2014) and Lancet Respir. Med. 2:507 (2014).
  • Maryoung L, Yue Y, Young A, Newton CA, Barba C, van Oers NSC, Wang RC and Garcia CK. Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations. J Clin Invest. 2017 Mar 1; 127(3):982-6; PMID: 28192371.
  • Newton CA, Zhang D, Oldham JM, Kozlitina J, Ma S-F, Martinez JF, Raghu G, Noth I and Garcia CK. Telomere Length and Use of Immunosuppressive Medications in Idiopathic Pulmonary Fibrosis. Am. J. Respir Crit Care Med. 2019 Aug 1; 200(3):336-347. PMID: 30566847. Commentary: Am. J. Respir Crit Care Med. 2019 Aug 1; 200(3):274-275. PMID: 30624965.

Identification of COVID-19-Associated Phenotypes

  • McGroder CF, Zhang D, Choudhury MA, Salvatore MM, D’Souza BM, Hoffman EA, Wei Y, Baldwin MR, and Garcia CK. Pulmonary Fibrosis Four Months after COVID-19 is Associated with Severity of Illness and Blood Leukocyte Telomere Length. Thorax. 2021 Apr29. PMID:33927016.
  • Nalbandian A, Gupta A, Madhavan M, McGroder C, Stevens J, Cook J, Nordvig A, Shalev D, Sehrawat T, Ahluwalia N, Bikdeli B, Dietz D, Der-Nigoghossian C, Liyanage-Don N, Rosner G, Bernstein E, Mohan S, Beckley A, Seres D, Choueiri T, Uriel N, Ausiello J, Accili D, Freedberg D, Baldwin M, Schwartz A, Brodie D, Garcia CK, Elkind M, Connors J, Bilezikian JP, Landry D, Wan E. Post-acute COVID Syndrome, Nat. Med., 2021 Apr: 27(4): 601-15. PMID: 33753937.
  • De Michele S, Sun Y, Yilmaz MM, Katsyv I, Salvatore M, Dzierba AL, Marboe CC, Brodie D, Patel NM, Garcia CK, and Saqi, A. Forty Post-Mortem Examinations in Covid-19 Patients: Two Distinct Pathologic Phenotypes and Correlation with Clinical and Radiographic Findings. Am J Clin Path. 2020 Sep 2:aqaa156. PMID: 32876680.
  • Capaccione KM, McGroder C, Garcia CK, Fedyna S, Saqi A, Salvatore MM. COVID-10 Induced Pulmonary Sarcoid: A Case Report and Review of the Literature. Clinical Imaging 2022 Mar;83:152-158. doi: 10.1016/j.clinimag.2021.12.021. Epub 2022 Jan 13. PMID: 35051738.

Explore a Complete List of Publications From the Garcia Lab