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One is the loneliest number: genotypic matchmaking using the electronic health record.
Brokamp E, Koziura ME, Phillips JA 3rd, Tang LA, Cogan JD, Rives LC, Robertson AK, Duncan L, Bican A, Peterson JF, Newman JH, Hamid R, Bastarache L; Undiagnosed Diseases Network. Brokamp E, et al. Genet Med. 2021 Oct;23(10):1830-1832. doi: 10.1038/s41436-021-01179-w. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230636 Free article. No abstract available.
Corrigendum to "Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9" [Stem Cell Res. 56 (2021) 102554].
Pavlinov I, Farkhondeh A, Yang S, Xu M, Cheng YS, Beers J, Zou J, Liu C, Might M, Rodems S, Baumgärtel K, Zheng W. Pavlinov I, et al. Among authors: might m. Stem Cell Res. 2021 Dec;57:102602. doi: 10.1016/j.scr.2021.102602. Epub 2021 Nov 17. Stem Cell Res. 2021. PMID: 34801429 Free PMC article. No abstract available.
Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9.
Pavlinov I, Farkhondeh A, Yang S, Xu M, Cheng YS, Beers J, Zou J, Liu C, Might M, Rodems S, Baumgärtel K, Zheng W. Pavlinov I, et al. Among authors: might m. Stem Cell Res. 2021 Oct;56:102554. doi: 10.1016/j.scr.2021.102554. Epub 2021 Sep 30. Stem Cell Res. 2021. PMID: 34619643 Free PMC article.
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.
Bhatia A, Mobley BC, Cogan J, Koziura ME, Brokamp E, Phillips J, Newman J; Undiagnosed Diseases Network (UDN); Moore SA, Hamid R; Members of the Undiagnosed Diseases Network. Bhatia A, et al. Clin Imaging. 2019 Nov-Dec;58:108-113. doi: 10.1016/j.clinimag.2019.06.010. Epub 2019 Jun 21. Clin Imaging. 2019. PMID: 31299614 Free PMC article.
IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Newman JH, Shaver A, Sheehan JH, Mallal S, Stone JH, Pillai S, Bastarache L, Riebau D, Allard-Chamard H, Stone WM, Perugino C, Pilkinton M, Smith SA, McDonnell WJ, Capra JA, Meiler J, Cogan J, Xing K, Mahajan VS, Mattoo H, Hamid R, Phillips JA 3rd; Undiagnosed Disease Network. Newman JH, et al. Mol Genet Genomic Med. 2019 Jun;7(6):e686. doi: 10.1002/mgg3.686. Epub 2019 Apr 16. Mol Genet Genomic Med. 2019. PMID: 30993913 Free PMC article.
Induced pluripotent stem cells for neural drug discovery.
Farkhondeh A, Li R, Gorshkov K, Chen KG, Might M, Rodems S, Lo DC, Zheng W. Farkhondeh A, et al. Among authors: might m. Drug Discov Today. 2019 Apr;24(4):992-999. doi: 10.1016/j.drudis.2019.01.007. Epub 2019 Jan 18. Drug Discov Today. 2019. PMID: 30664937 Free PMC article. Review.
What happens when N = 1 and you want plus 1?
Might M, Might CC. Might M, et al. Among authors: might cc. Prenat Diagn. 2017 Jan;37(1):70-72. doi: 10.1002/pd.4975. Epub 2016 Dec 30. Prenat Diagn. 2017. PMID: 27885678
128 results