Papers

All Papers on PubMed

Discovery of lung disease genes:

  • 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.
  • 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.
  • 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.

Using rare human families to study telomere-related phenotypes:

  • 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, 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.
  • 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.

Using cohorts to translate genetic discoveries:

  • 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.
  • 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.
  • Newton CA, Oldham JM, Ley B, Anand V, Adegunsoye A, Liu G, Batra K, Torrealba J, Kozlitina J, Glazer C, Strek ME, Wolters PJ, Noth I and Garcia CK. Telomere Length and Genetic Variant Associations with Interstitial Lung Disease Progression and Survival. Eur Respir J. 2019. 53(4). PMID: 30635297.