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Page 1
Novel HIVEP2 Variants in Patients with Intellectual Disability.
Park J, Colombo R, Schäferhoff K, Janiri L, Grimmel M, Sturm M, Grasshoff U, Dufke A, Haack TB, Kehrer M. Park J, et al. Among authors: kehrer m. Mol Syndromol. 2019 Jul;10(4):195-201. doi: 10.1159/000499060. Epub 2019 Apr 3. Mol Syndromol. 2019. PMID: 31602191 Free PMC article.
Next-generation sequencing in X-linked intellectual disability.
Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, Maiwald R, Jung C, Kuechler A, Schulz S, Meinecke P, Spranger S, Kohlhase J, Seidel J, Reif S, Rieger M, Riess A, Sturm M, Bickmann J, Schroeder C, Dufke A, Riess O, Bauer P. Tzschach A, et al. Among authors: kehrer m. Eur J Hum Genet. 2015 Nov;23(11):1513-8. doi: 10.1038/ejhg.2015.5. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649377 Free PMC article.
HBOC multi-gene panel testing: comparison of two sequencing centers.
Schroeder C, Faust U, Sturm M, Hackmann K, Grundmann K, Harmuth F, Bosse K, Kehrer M, Benkert T, Klink B, Mackenroth L, Betcheva-Krajcir E, Wimberger P, Kast K, Heilig M, Nguyen HP, Riess O, Schröck E, Bauer P, Rump A. Schroeder C, et al. Among authors: kehrer m. Breast Cancer Res Treat. 2015 Jul;152(1):129-136. doi: 10.1007/s10549-015-3429-9. Epub 2015 May 29. Breast Cancer Res Treat. 2015. PMID: 26022348
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, Grundman-Hauser K, Bauer P, Ossowski S, Susak H, Varon R, Schröck E, Niederacher D, Auber B, Sutter C, Arnold N, Hahnen E, Dworniczak B, Wang-Gorke S, Gehrig A, Weber BHF, Engel C, Lemke JR, Hartkopf A, Nguyen HP, Riess O, Schroeder C. Sepahi I, et al. Among authors: kehrer m. BMC Cancer. 2019 Aug 8;19(1):787. doi: 10.1186/s12885-019-5946-0. BMC Cancer. 2019. PMID: 31395037 Free PMC article.
Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.
Habhab W, Mau-Holzmann U, Singer S, Rieß A, Kagan KO, Gerbig I, Schäferhoff K, Dufke A, Kehrer M. Habhab W, et al. Among authors: kehrer m. Am J Med Genet A. 2020 Nov;182(11):2680-2684. doi: 10.1002/ajmg.a.61804. Epub 2020 Aug 16. Am J Med Genet A. 2020. PMID: 32803851 Review.
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
Falb RJ, Müller AJ, Klein W, Grimmel M, Grasshoff U, Spranger S, Stöbe P, Gauck D, Kuechler A, Dikow N, Schwaibold EMC, Schmidt C, Averdunk L, Buchert R, Heinrich T, Prodan N, Park J, Kehrer M, Sturm M, Kelemen O, Hartmann S, Horn D, Emmerich D, Hirt N, Neumann A, Kristiansen G, Gembruch U, Haen S, Siebert R, Hentze S, Hoopmann M, Ossowski S, Waldmüller S, Beck-Wödl S, Gläser D, Tekesin I, Distelmaier F, Riess O, Kagan KO, Dufke A, Haack TB. Falb RJ, et al. Among authors: kehrer m. J Med Genet. 2023 Jan;60(1):48-56. doi: 10.1136/jmedgenet-2021-108064. Epub 2021 Nov 5. J Med Genet. 2023. PMID: 34740919 Free PMC article.
70 results