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The role of epigenetics in rare diseases.
Horsthemke B. Horsthemke B. Med Genet. 2024 Jun 6;36(2):111-120. doi: 10.1515/medgen-2024-2014. eCollection 2024 Jun. Med Genet. 2024. PMID: 38854642 Free PMC article.
A critical appraisal of clinical epigenetics.
Horsthemke B. Horsthemke B. Clin Epigenetics. 2022 Jul 28;14(1):95. doi: 10.1186/s13148-022-01315-6. Clin Epigenetics. 2022. PMID: 35902960 Free PMC article.
Angelman syndrome - insights into a rare neurogenetic disorder.
Buiting K, Williams C, Horsthemke B. Buiting K, et al. Among authors: horsthemke b. Nat Rev Neurol. 2016 Oct;12(10):584-93. doi: 10.1038/nrneurol.2016.133. Epub 2016 Sep 12. Nat Rev Neurol. 2016. PMID: 27615419 Review.
Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.
Bens S, Kolarova J, Beygo J, Buiting K, Caliebe A, Eggermann T, Gillessen-Kaesbach G, Prawitt D, Thiele-Schmitz S, Begemann M, Enklaar T, Gutwein J, Haake A, Paul U, Richter J, Soellner L, Vater I, Monk D, Horsthemke B, Ammerpohl O, Siebert R. Bens S, et al. Among authors: horsthemke b. Epigenomics. 2016 Jun;8(6):801-16. doi: 10.2217/epi-2016-0007. Epub 2016 Jun 20. Epigenomics. 2016. PMID: 27323310
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.
Docherty LE, Rezwan FI, Poole RL, Turner CL, Kivuva E, Maher ER, Smithson SF, Hamilton-Shield JP, Patalan M, Gizewska M, Peregud-Pogorzelski J, Beygo J, Buiting K, Horsthemke B, Soellner L, Begemann M, Eggermann T, Baple E, Mansour S, Temple IK, Mackay DJ. Docherty LE, et al. Among authors: horsthemke b. Nat Commun. 2015 Sep 1;6:8086. doi: 10.1038/ncomms9086. Nat Commun. 2015. PMID: 26323243 Free PMC article.
A familial disorder of altered DNA-methylation.
Caliebe A, Richter J, Ammerpohl O, Kanber D, Beygo J, Bens S, Haake A, Jüttner E, Korn B, Mackay DJ, Martin-Subero JI, Nagel I, Sebire NJ, Seidmann L, Vater I, von Kaisenberg CS, Temple IK, Horsthemke B, Buiting K, Siebert R. Caliebe A, et al. Among authors: horsthemke b. J Med Genet. 2014 Jun;51(6):407-12. doi: 10.1136/jmedgenet-2013-102149. Epub 2014 Apr 10. J Med Genet. 2014. PMID: 24721835
Regions of common inter-individual DNA methylation differences in human monocytes: genetic basis and potential function.
Schröder C, Leitão E, Wallner S, Schmitz G, Klein-Hitpass L, Sinha A, Jöckel KH, Heilmann-Heimbach S, Hoffmann P, Nöthen MM, Steffens M, Ebert P, Rahmann S, Horsthemke B. Schröder C, et al. Among authors: horsthemke b. Epigenetics Chromatin. 2017 Jul 26;10(1):37. doi: 10.1186/s13072-017-0144-2. Epigenetics Chromatin. 2017. PMID: 28747224 Free PMC article.
294 results