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Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Münch J, Engesser M, Schönauer R, Hamm JA, Hartig C, Hantmann E, Akay G, Pehlivan D, Mitani T, Coban Akdemir Z, Tüysüz B, Shirakawa T, Dateki S, Claus LR, van Eerde AM; Genomics England Research Consortium; Smol T, Devisme L, Franquet H, Attié-Bitach T, Wagner T, Bergmann C, Höhn AK, Shril S, Pollack A, Wenger T, Scott AA, Paolucci S, Buchan J, Gabriel GC, Posey JE, Lupski JR, Petit F, McCarthy AA, Pazour GJ, Lo CW, Popp B, Halbritter J. Münch J, et al. Among authors: hantmann e. Kidney Int. 2022 May;101(5):1039-1053. doi: 10.1016/j.kint.2022.01.028. Epub 2022 Feb 26. Kidney Int. 2022. PMID: 35227688 Free PMC article.
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: hantmann e. 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.
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: hantmann e. 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
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Schönauer R, Jin W, Findeisen C, Valenzuela I, Devlin LA, Murrell J, Bedoukian EC, Pöschla L, Hantmann E, Riedhammer KM, Hoefele J, Platzer K, Biemann R, Campeau PM, Münch J, Heyne H, Hoffmann A, Ghosh A, Sun W, Dong H, Noé F, Wolfrum C, Woods E, Parker MJ, Neatu R, Le Guyader G, Bruel AL, Perrin L, Spiewak H; Genomics England Research Consortium; Missotte I, Fourgeaud M, Michaud V, Lacombe D, Paolucci SA, Buchan JG, Glissmeyer M, Popp B, Blüher M, Sayer JA, Halbritter J. Schönauer R, et al. Among authors: hantmann e. Am J Hum Genet. 2023 Jun 1;110(6):998-1007. doi: 10.1016/j.ajhg.2023.04.010. Epub 2023 May 18. Am J Hum Genet. 2023. PMID: 37207645 Free PMC article.