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Whole-Exome Sequencing in Adults With Chronic Kidney Disease.
Kiryluk K, Groopman E, Rasouly H, Garcia CK, Gharavi AG. Kiryluk K, et al. Among authors: garcia ck. Ann Intern Med. 2018 Jul 17;169(2):132-133. doi: 10.7326/L18-0207. Ann Intern Med. 2018. PMID: 30014107 No abstract available.
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
Lata S, Marasa M, Li Y, Fasel DA, Groopman E, Jobanputra V, Rasouly H, Mitrotti A, Westland R, Verbitsky M, Nestor J, Slater LM, D'Agati V, Zaniew M, Materna-Kiryluk A, Lugani F, Caridi G, Rampoldi L, Mattoo A, Newton CA, Rao MK, Radhakrishnan J, Ahn W, Canetta PA, Bomback AS, Appel GB, Antignac C, Markowitz GS, Garcia CK, Kiryluk K, Sanna-Cherchi S, Gharavi AG. Lata S, et al. Among authors: garcia ck. Ann Intern Med. 2018 Jan 16;168(2):100-109. doi: 10.7326/M17-1319. Epub 2017 Dec 5. Ann Intern Med. 2018. PMID: 29204651 Free PMC article.
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
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, Garcia CK. Stuart BD, et al. Among authors: garcia ck. Nat Genet. 2015 May;47(5):512-7. doi: 10.1038/ng.3278. Epub 2015 Apr 13. Nat Genet. 2015. PMID: 25848748 Free PMC article.
Familial spontaneous pneumothorax.
Chiu HT, Garcia CK. Chiu HT, et al. Among authors: garcia ck. Curr Opin Pulm Med. 2006 Jul;12(4):268-72. doi: 10.1097/01.mcp.0000230630.73139.f0. Curr Opin Pulm Med. 2006. PMID: 16825879 Review.
Homozygous Rare PARN Missense Mutation in Familial Pulmonary Fibrosis.
Zhang D, Zhou Z, Abu-Hijleh M, Batra K, Xing C, Garcia CK. Zhang D, et al. Among authors: garcia ck. Am J Respir Crit Care Med. 2019 Mar 15;199(6):797-799. doi: 10.1164/rccm.201809-1632LE. Am J Respir Crit Care Med. 2019. PMID: 30525901 Free PMC article. No abstract available.
Inherited interstitial lung disease.
Garcia CK, Raghu G. Garcia CK, et al. Clin Chest Med. 2004 Sep;25(3):421-33, v. doi: 10.1016/j.ccm.2004.05.001. Clin Chest Med. 2004. PMID: 15331184 Review.
Telomere shortening in familial and sporadic pulmonary fibrosis.
Cronkhite JT, Xing C, Raghu G, Chin KM, Torres F, Rosenblatt RL, Garcia CK. Cronkhite JT, et al. Among authors: garcia ck. Am J Respir Crit Care Med. 2008 Oct 1;178(7):729-37. doi: 10.1164/rccm.200804-550OC. Epub 2008 Jul 17. Am J Respir Crit Care Med. 2008. PMID: 18635888 Free PMC article.
98 results