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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: brand f. 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.
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: brand f. 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: brand f. 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: brand f. 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.
Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin.
Förster A, Brand F, Banan R, Hüneburg R, Weber CAM, Ewert W, Kronenberg J, Previti C, Elyan N, Beyer U, Martens H, Hong B, Bräsen JH, Erbersdobler A, Krauss JK, Stangel M, Samii A, Wolf S, Preller M, Aretz S, Wiese B, Hartmann C, Weber RG. Förster A, et al. Among authors: brand f. Acta Neuropathol. 2021 Jul;142(1):191-210. doi: 10.1007/s00401-021-02307-1. Epub 2021 Apr 30. Acta Neuropathol. 2021. PMID: 33929593 Free PMC article.
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.
Christians A, Kesdiren E, Hennies I, Hofmann A, Trowe MO, Brand F, Martens H, Gjerstad AC, Gucev Z, Zirngibl M, Geffers R, Seeman T, Billing H, Bjerre A, Tasic V, Kispert A, Ure B, Haffner D, Dingemann J, Weber RG. Christians A, et al. Among authors: brand f. Hum Genet. 2023 Jan;142(1):73-88. doi: 10.1007/s00439-022-02481-6. Epub 2022 Sep 6. Hum Genet. 2023. PMID: 36066768 Free PMC article.
Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.
Weber CAM, Krönke N, Volk V, Auber B, Förster A, Trost D, Geffers R, Esmaeilzadeh M, Lalk M, Nabavi A, Samii A, Krauss JK, Feuerhake F, Hartmann C, Wiese B, Brand F, Weber RG. Weber CAM, et al. Among authors: brand f. Acta Neuropathol Commun. 2023 Nov 21;11(1):184. doi: 10.1186/s40478-023-01689-5. Acta Neuropathol Commun. 2023. PMID: 37990341 Free PMC article.
163 results