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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR; Baylor-Johns Hopkins Center for Mendelian Genomics; Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC. Stray-Pedersen A, et al. Among authors: chokshi ny. Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12. Am J Hum Genet. 2014. PMID: 24931394 Free PMC article.
Risk factors in pediatric shrimp allergy.
Chokshi NY, Maskatia Z, Miller S, Guffey D, Minard CG, Davis CM. Chokshi NY, et al. Allergy Asthma Proc. 2015 Jul-Aug;36(4):65-71. doi: 10.2500/aap.2015.36.3852. Allergy Asthma Proc. 2015. PMID: 26108073
Interpreting IgE sensitization tests in food allergy.
Chokshi NY, Sicherer SH. Chokshi NY, et al. Expert Rev Clin Immunol. 2016;12(4):389-403. doi: 10.1586/1744666X.2016.1124761. Epub 2015 Dec 15. Expert Rev Clin Immunol. 2016. PMID: 26666347 Review.
Molecular diagnosis of egg allergy: an update.
Chokshi NY, Sicherer SH. Chokshi NY, et al. Expert Rev Mol Diagn. 2015;15(7):895-906. doi: 10.1586/14737159.2015.1041927. Epub 2015 May 15. Expert Rev Mol Diagn. 2015. PMID: 25975845 Review.