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Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.
Chen K, Coonrod EM, Kumánovics A, Franks ZF, Durtschi JD, Margraf RL, Wu W, Heikal NM, Augustine NH, Ridge PG, Hill HR, Jorde LB, Weyrich AS, Zimmerman GA, Gundlapalli AV, Bohnsack JF, Voelkerding KV. Chen K, et al. Among authors: voelkerding kv. Am J Hum Genet. 2013 Nov 7;93(5):812-24. doi: 10.1016/j.ajhg.2013.09.009. Epub 2013 Oct 17. Am J Hum Genet. 2013. PMID: 24140114 Free PMC article.
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtschi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM. Swoboda KJ, et al. Among authors: voelkerding kv. Am J Med Genet A. 2014 Jan;164A(1):17-28. doi: 10.1002/ajmg.a.36189. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259288 Free PMC article.
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.
Singleton MV, Guthery SL, Voelkerding KV, Chen K, Kennedy B, Margraf RL, Durtschi J, Eilbeck K, Reese MG, Jorde LB, Huff CD, Yandell M. Singleton MV, et al. Among authors: voelkerding kv. Am J Hum Genet. 2014 Apr 3;94(4):599-610. doi: 10.1016/j.ajhg.2014.03.010. Am J Hum Genet. 2014. PMID: 24702956 Free PMC article.
Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.
Buchbinder D, Baker R, Lee YN, Ravell J, Zhang Y, McElwee J, Nugent D, Coonrod EM, Durtschi JD, Augustine NH, Voelkerding KV, Csomos K, Rosen L, Browne S, Walter JE, Notarangelo LD, Hill HR, Kumánovics A. Buchbinder D, et al. Among authors: voelkerding kv. J Clin Immunol. 2015 Feb;35(2):119-24. doi: 10.1007/s10875-014-0121-5. Epub 2014 Dec 17. J Clin Immunol. 2015. PMID: 25516070 Free PMC article.
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.
Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, Orange JS, Calvo KR, Niemela JE, Casanova JL, Fleisher TA, Hill HR, Kumánovics A, Conley ME, Rosenzweig SD. Kuehn HS, et al. Among authors: voelkerding kv. N Engl J Med. 2016 Mar 17;374(11):1032-1043. doi: 10.1056/NEJMoa1512234. N Engl J Med. 2016. PMID: 26981933 Free PMC article.
96 results