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Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.
Monk D, Morales J, den Dunnen JT, Russo S, Court F, Prawitt D, Eggermann T, Beygo J, Buiting K, Tümer Z; Nomenclature group of the European Network for Human Congenital Imprinting Disorders. Monk D, et al. Among authors: buiting k. Epigenetics. 2018;13(2):117-121. doi: 10.1080/15592294.2016.1264561. Epub 2018 Jan 25. Epigenetics. 2018. PMID: 27911167 Free PMC article. Review.
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.
Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, Prawitt D, Maher ER, Mannens M, Riccio A, Weksberg R, Lapunzina P, Grønskov K, Mackay DJ, Eggermann T. Eggermann K, et al. Among authors: buiting k. Eur J Hum Genet. 2016 Oct;24(10):1377-87. doi: 10.1038/ejhg.2016.45. Epub 2016 May 11. Eur J Hum Genet. 2016. PMID: 27165005 Free PMC article.
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: buiting k. Epigenomics. 2016 Jun;8(6):801-16. doi: 10.2217/epi-2016-0007. Epub 2016 Jun 20. Epigenomics. 2016. PMID: 27323310
Frequency and characterization of DNA methylation defects in children born SGA.
Bens S, Haake A, Richter J, Leohold J, Kolarova J, Vater I, Riepe FG, Buiting K, Eggermann T, Gillessen-Kaesbach G, Platzer K, Prawitt D, Caliebe A, Siebert R. Bens S, et al. Among authors: buiting k. Eur J Hum Genet. 2013 Aug;21(8):838-43. doi: 10.1038/ejhg.2012.262. Epub 2012 Dec 12. Eur J Hum Genet. 2013. PMID: 23232699 Free PMC article.
Epigenetic germline mosaicism in infertile men.
Laurentino S, Beygo J, Nordhoff V, Kliesch S, Wistuba J, Borgmann J, Buiting K, Horsthemke B, Gromoll J. Laurentino S, et al. Among authors: buiting k. Hum Mol Genet. 2015 Mar 1;24(5):1295-304. doi: 10.1093/hmg/ddu540. Epub 2014 Oct 21. Hum Mol Genet. 2015. PMID: 25336341
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.
Beygo J, Küchler A, Gillessen-Kaesbach G, Albrecht B, Eckle J, Eggermann T, Gellhaus A, Kanber D, Kordaß U, Lüdecke HJ, Purmann S, Rossier E, van de Nes J, van der Werf IM, Wenzel M, Wieczorek D, Horsthemke B, Buiting K. Beygo J, et al. Among authors: buiting k. Eur J Hum Genet. 2017 Aug;25(8):935-945. doi: 10.1038/ejhg.2017.91. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635951 Free PMC article.
141 results