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The genetics of Wilson disease.
Chang IJ, Hahn SH. Chang IJ, et al. Handb Clin Neurol. 2017;142:19-34. doi: 10.1016/B978-0-444-63625-6.00003-3. Handb Clin Neurol. 2017. PMID: 28433102 Free PMC article. Review.
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Zhang T, Duong P, Dayuha R, Collins CJ, Beckman E, Thies J, Chang I, Lam C, Sun A, Scott AI, Thompson J, Singh A, Khaledi H, Gelb MH, Hahn SH. Zhang T, et al. Mol Genet Metab. 2022 Aug;136(4):296-305. doi: 10.1016/j.ymgme.2022.06.006. Epub 2022 Jun 28. Mol Genet Metab. 2022. PMID: 35787971 Free PMC article.
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ; Undiagnosed Diseases Network; Sunyaev SR, Kohane IS. Kobren SN, et al. Genet Med. 2021 Jun;23(6):1075-1085. doi: 10.1038/s41436-020-01084-8. Epub 2021 Feb 12. Genet Med. 2021. PMID: 33580225 Free PMC article.
2,926 results