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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Among authors: mcpheron m. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.
Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders.
Wangler MF, Lesko B, Dahal R, Jangam S, Bhadane P, Wilson TE, McPheron M, Miller MJ. Wangler MF, et al. Among authors: mcpheron m. Mol Genet Metab. 2023 Nov;140(3):107680. doi: 10.1016/j.ymgme.2023.107680. Epub 2023 Aug 7. Mol Genet Metab. 2023. PMID: 37567036
Palynziq clinic: One year and 43 patients later.
Lah M, McPheron M. Lah M, et al. Among authors: mcpheron m. Mol Genet Metab. 2021 Jul;133(3):250-256. doi: 10.1016/j.ymgme.2021.05.006. Epub 2021 May 19. Mol Genet Metab. 2021. PMID: 34074593
Energy calibration of high-resolution X-Ray TES microcalorimeters with 3 eV optical photons.
Jaeckel FT, Ambarish CV, Christensen N, Gruenke R, Hu L, McCammon D, McPheron M, Meyer M, Nelms KL, Roy A, Wulf D, Zhang S, Zhou Y, Adams JS, Bandler SR, Chervenak JA, Datesman AM, Eckart ME, Ewin AJ, Finkbeiner FM, Kelley R, Kilbourne CA, Miniussi AR, Porter FS, Sadleir JE, Sakai K, Smith SJ, Wakeham N, Wassell E, Yoon W, Morgan KM, Schmidt DR, Swetz DS, Ullom JN. Jaeckel FT, et al. Among authors: mcpheron m. IEEE Trans Appl Supercond. 2019 Aug;29(5):2100104. doi: 10.1109/TASC.2019.2899856. Epub 2019 Feb 18. IEEE Trans Appl Supercond. 2019. PMID: 31186605 Free PMC article.