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Psychiatric and behavioral manifestations of lysosomal storage disorders.
Staretz-Chacham O, Choi JH, Wakabayashi K, Lopez G, Sidransky E. Staretz-Chacham O, et al. Among authors: choi jh. Am J Med Genet B Neuropsychiatr Genet. 2010 Oct 5;153B(7):1253-65. doi: 10.1002/ajmg.b.31097. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20872765 Review.
False-positive results using a Gaucher diagnostic kit--RecTL and N370S.
Choi JH, Velayati A, Stubblefield BK, Orr-Urtreger A, Gan-Or Z, Tayebi N, Sidransky E. Choi JH, et al. Mol Genet Metab. 2010 May;100(1):100-2. doi: 10.1016/j.ymgme.2009.12.017. Epub 2010 Jan 4. Mol Genet Metab. 2010. PMID: 20096616 Free PMC article.
A mutation in SCARB2 is a modifier in Gaucher disease.
Velayati A, DePaolo J, Gupta N, Choi JH, Moaven N, Westbroek W, Goker-Alpan O, Goldin E, Stubblefield BK, Kolodny E, Tayebi N, Sidransky E. Velayati A, et al. Among authors: choi jh. Hum Mutat. 2011 Nov;32(11):1232-8. doi: 10.1002/humu.21566. Epub 2011 Sep 15. Hum Mutat. 2011. PMID: 21796727 Free PMC article.
Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma.
Mohsin N, Hunt D, Yan J, Jabbour AJ, Nghiem P, Choi J, Zhang Y, Freeman AF, Bergerson JRE, Dell'Orso S, Lachance K, Kulikauskas R, Collado L, Cao W, Lack J, Similuk M, Seifert BA, Ghosh R, Walkiewicz MA, Brownell I. Mohsin N, et al. JAMA Dermatol. 2024 Feb 1;160(2):172-178. doi: 10.1001/jamadermatol.2023.5362. JAMA Dermatol. 2024. PMID: 38170500
6,827 results