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Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations.
Chen K, Wu W, Mathew D, Zhang Y, Browne SK, Rosen LB, McManus MP, Pulsipher MA, Yandell M, Bohnsack JF, Jorde LB, Notarangelo LD, Walter JE. Chen K, et al. Among authors: bohnsack jf. J Allergy Clin Immunol. 2014 Mar;133(3):880-2.e10. doi: 10.1016/j.jaci.2013.11.038. Epub 2014 Jan 25. J Allergy Clin Immunol. 2014. PMID: 24472623 Free PMC article. No abstract available.
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: bohnsack jf. 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.
Distal arthrogryposis type 1: clinical analysis of a large kindred.
Bamshad M, Bohnsack JF, Jorde LB, Carey JC. Bamshad M, et al. Among authors: bohnsack jf. Am J Med Genet. 1996 Nov 11;65(4):282-5. doi: 10.1002/(SICI)1096-8628(19961111)65:4<282::AID-AJMG7>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8923936
Lymphoma in Partial DiGeorge Syndrome: Report of 2 Cases.
Lozano-Chinga M, Diaz-Cabrera N, Khimani F, Chen K, Bohnsack J, Walter JE, Tabatabaian F, Afify Z. Lozano-Chinga M, et al. J Pediatr Hematol Oncol. 2022 Apr 1;44(3):e819-e822. doi: 10.1097/MPH.0000000000002388. J Pediatr Hematol Oncol. 2022. PMID: 34966099
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter.
Krakowiak PA, O'Quinn JR, Bohnsack JF, Watkins WS, Carey JC, Jorde LB, Bamshad M. Krakowiak PA, et al. Among authors: bohnsack jf. Am J Hum Genet. 1997 Feb;60(2):426-32. Am J Hum Genet. 1997. PMID: 9012416 Free PMC article.
160 results