1.
Cummings BB, Marshall JL, Tukiainen T, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017;9(386). doi:10.1126/scitranslmed.aal5209.
1.
Di Gioia SA, Connors S, Matsunami N, et al. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun. 2017;8:16077. doi:10.1038/ncomms16077.
1.
Kong X, Yao T, Zhou P, et al. Brown Adipose Tissue Controls Skeletal Muscle Function via the Secretion of Myostatin. Cell Metab. 2018;28(4):631-643.e3. doi:10.1016/j.cmet.2018.07.004.
1.
Johnson K, De Ridder W, Topf A, et al. Extending the clinical and mutational spectrum of -related myopathies in a non-Hutterite population. J Neurol Neurosurg Psychiatry. 2019;90(4):490-493. doi:10.1136/jnnp-2018-318288.
1.
Fox IJ, Daley GQ, Goldman SA, Huard J, Kamp TJ, Trucco M. Stem cell therapy. Use of differentiated pluripotent stem cells as replacement therapy for treating disease. Science. 2014;345(6199):1247391. doi:10.1126/science.1247391.
1.
Agrawal PB, Joshi M, Marinakis NS, et al. Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings. JAMA Neurol. 2014;71(11):1413-20. doi:10.1001/jamaneurol.2014.1432.
1.
Ivansson EL, Megquier K, Kozyrev SV, et al. Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy. Proc Natl Acad Sci U S A. 2016;113(22):E3091-100. doi:10.1073/pnas.1600084113.
1.
Wagner BK, Gilbert TJ, Hanai J- ichi, et al. A small-molecule screening strategy to identify suppressors of statin myopathy. ACS Chem Biol. 2011;6(9):900-4. doi:10.1021/cb200206w.