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Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment.
Schönauer R, Jin W, Ertel A, Nemitz-Kliemchen M, Panitz N, Hantmann E, Seidel A, Braun DA, Shril S, Hansen M, Shahzad K, Sandford R, Saunier S, Benmerah A, Bergmann C, Hildebrandt F, Halbritter J. Schönauer R, et al. Among authors: nemitz kliemchen m. Kidney Int. 2020 Oct;98(4):958-969. doi: 10.1016/j.kint.2020.05.027. Epub 2020 Jun 4. Kidney Int. 2020. PMID: 32505465 Free PMC article.
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Schönauer R, Baatz S, Nemitz-Kliemchen M, Frank V, Petzold F, Sewerin S, Popp B, Münch J, Neuber S, Bergmann C, Halbritter J. Schönauer R, et al. Among authors: nemitz kliemchen m. Genet Med. 2020 Aug;22(8):1374-1383. doi: 10.1038/s41436-020-0816-3. Epub 2020 May 13. Genet Med. 2020. PMID: 32398770 Free PMC article.
Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability.
Schönauer R, Scherer L, Nemitz-Kliemchen M, Hagemann T, Hantmann E, Seidel A, Müller L, Kehr S, Voigt C, Stolzenburg JU, Halbritter J. Schönauer R, et al. Among authors: nemitz kliemchen m. Am J Med Genet C Semin Med Genet. 2022 Sep;190(3):279-288. doi: 10.1002/ajmg.c.31991. Epub 2022 Aug 3. Am J Med Genet C Semin Med Genet. 2022. PMID: 35923129