1.
Živná M, Kidd K, Přistoupilová A, et al. Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease. J Am Soc Nephrol. 2018;29(9):2418-2431. doi:10.1681/ASN.2018020180.
1.
Dvela-Levitt M, Kost-Alimova M, Emani M, et al. Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy. Cell. 2019;178(3):521-535.e23. doi:10.1016/j.cell.2019.07.002.
1.
Kirby A, Gnirke A, Jaffe DB, et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013;45(3):299-303. doi:10.1038/ng.2543.
1.
Blumenstiel B, DeFelice M, Birsoy O, et al. Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease. J Mol Diagn. 2016;18(4):566-71. doi:10.1016/j.jmoldx.2016.03.003.