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Page 1
Rare heterozygous GDF6 variants in patients with renal anomalies.
Martens H, Hennies I, Getwan M, Christians A, Weiss AC, Brand F, Gjerstad AC, Christians A, Gucev Z, Geffers R, Seeman T, Kispert A, Tasic V, Bjerre A, Lienkamp SS, Haffner D, Weber RG. Martens H, et al. Among authors: weber rg. Eur J Hum Genet. 2020 Dec;28(12):1681-1693. doi: 10.1038/s41431-020-0678-9. Epub 2020 Jul 31. Eur J Hum Genet. 2020. PMID: 32737436 Free PMC article.
CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT).
Brockschmidt A, Chung B, Weber S, Fischer DC, Kolatsi-Joannou M, Christ L, Heimbach A, Shtiza D, Klaus G, Simonetti GD, Konrad M, Winyard P, Haffner D, Schaefer F, Weber RG. Brockschmidt A, et al. Among authors: weber s, weber rg. Nephrol Dial Transplant. 2012 Jun;27(6):2355-64. doi: 10.1093/ndt/gfr649. Epub 2011 Dec 6. Nephrol Dial Transplant. 2012. PMID: 22146311 Free article.
Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.
Classen CF, Riehmer V, Landwehr C, Kosfeld A, Heilmann S, Scholz C, Kabisch S, Engels H, Tierling S, Zivicnjak M, Schacherer F, Haffner D, Weber RG. Classen CF, et al. Among authors: weber rg. Hum Genet. 2013 Jul;132(7):825-41. doi: 10.1007/s00439-013-1296-1. Epub 2013 Apr 4. Hum Genet. 2013. PMID: 23552953 Clinical Trial.
Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).
Kosfeld A, Kreuzer M, Daniel C, Brand F, Schäfer AK, Chadt A, Weiss AC, Riehmer V, Jeanpierre C, Klintschar M, Bräsen JH, Amann K, Pape L, Kispert A, Al-Hasani H, Haffner D, Weber RG. Kosfeld A, et al. Among authors: weber rg. Hum Genet. 2016 Jan;135(1):69-87. doi: 10.1007/s00439-015-1610-1. Epub 2015 Nov 16. Hum Genet. 2016. PMID: 26572137
Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.
Kosfeld A, Brand F, Weiss AC, Kreuzer M, Goerk M, Martens H, Schubert S, Schäfer AK, Riehmer V, Hennies I, Bräsen JH, Pape L, Amann K, Krogvold L, Bjerre A, Daniel C, Kispert A, Haffner D, Weber RG. Kosfeld A, et al. Among authors: weber rg. Hum Mol Genet. 2017 May 1;26(9):1716-1731. doi: 10.1093/hmg/ddx086. Hum Mol Genet. 2017. PMID: 28334964
Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis.
Beyer U, Brand F, Martens H, Weder J, Christians A, Elyan N, Hentschel B, Westphal M, Schackert G, Pietsch T, Hong B, Krauss JK, Samii A, Raab P, Das A, Dumitru CA, Sandalcioglu IE, Hakenberg OW, Erbersdobler A, Lehmann U, Reifenberger G, Weller M, Reijns MAM, Preller M, Wiese B, Hartmann C, Weber RG. Beyer U, et al. Among authors: weber rg. Acta Neuropathol. 2017 Dec;134(6):905-922. doi: 10.1007/s00401-017-1774-y. Epub 2017 Oct 13. Acta Neuropathol. 2017. PMID: 29030706 Free article.
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