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COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C; Baylor-Hopkins Center for Mendelian Genomics; Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK. Watkin LB, et al. Nat Genet. 2015 Jun;47(6):654-60. doi: 10.1038/ng.3279. Epub 2015 Apr 20. Nat Genet. 2015. PMID: 25894502 Free PMC article.
Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease.
Vece TJ, Watkin LB, Nicholas S, Canter D, Braun MC, Guillerman RP, Eldin KW, Bertolet G, McKinley S, de Guzman M, Forbes L, Chinn I, Orange JS. Vece TJ, et al. Among authors: watkin lb. J Clin Immunol. 2016 May;36(4):377-387. doi: 10.1007/s10875-016-0271-8. Epub 2016 Apr 5. J Clin Immunol. 2016. PMID: 27048656 Free PMC article. Review.
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Lalani SR, et al. Among authors: watkin lb. Am J Hum Genet. 2016 Feb 4;98(2):347-57. doi: 10.1016/j.ajhg.2015.12.008. Epub 2016 Jan 21. Am J Hum Genet. 2016. PMID: 26805781 Free PMC article.
Cell biological steps and checkpoints in accessing NK cell cytotoxicity.
Mace EM, Dongre P, Hsu HT, Sinha P, James AM, Mann SS, Forbes LR, Watkin LB, Orange JS. Mace EM, et al. Among authors: watkin lb. Immunol Cell Biol. 2014 Mar;92(3):245-55. doi: 10.1038/icb.2013.96. Epub 2014 Jan 21. Immunol Cell Biol. 2014. PMID: 24445602 Free PMC article. Review.
Biallelic mutations in IRF8 impair human NK cell maturation and function.
Mace EM, Bigley V, Gunesch JT, Chinn IK, Angelo LS, Care MA, Maisuria S, Keller MD, Togi S, Watkin LB, LaRosa DF, Jhangiani SN, Muzny DM, Stray-Pedersen A, Coban Akdemir Z, Smith JB, Hernández-Sanabria M, Le DT, Hogg GD, Cao TN, Freud AG, Szymanski EP, Savic S, Collin M, Cant AJ, Gibbs RA, Holland SM, Caligiuri MA, Ozato K, Paust S, Doody GM, Lupski JR, Orange JS. Mace EM, et al. Among authors: watkin lb. J Clin Invest. 2017 Jan 3;127(1):306-320. doi: 10.1172/JCI86276. Epub 2016 Nov 28. J Clin Invest. 2017. PMID: 27893462 Free PMC article.
Maximum Dose Food Challenges Reveal Transient Sustained Unresponsiveness in Peanut Oral Immunotherapy (POIMD Study).
Davis CM, Anagnostou A, Devaraj S, Vita DT, Rivera F, Pitts K, Hearrell M, Minard C, Guffey D, Gupta M, Watkin L, Orange JS, Anvari S. Davis CM, et al. J Allergy Clin Immunol Pract. 2022 Feb;10(2):566-576.e6. doi: 10.1016/j.jaip.2021.10.074. Epub 2021 Dec 7. J Allergy Clin Immunol Pract. 2022. PMID: 34890827 Free PMC article. Clinical Trial.
Persistent Unexplained Transaminitis in COPA Syndrome.
Thaivalappil SS, Garrod AS, Borowitz SM, Watkin LB, Lawrence MG. Thaivalappil SS, et al. Among authors: watkin lb. J Clin Immunol. 2021 Jan;41(1):205-208. doi: 10.1007/s10875-020-00832-4. Epub 2020 Sep 24. J Clin Immunol. 2021. PMID: 32970305 No abstract available.
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