Publications by authors named "Sabine Kaya"

6Publications

Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15.

Eur J Hum Genet 2020 Jun 9;28(6):835-839. Epub 2020 Mar 9.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-020-0595-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253442PMC
June 2020

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 10 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment.

Eur J Hum Genet 2019 06 18;27(6):903-908. Epub 2019 Feb 18.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-019-0365-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777634PMC
June 2019

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders.

Epigenetics 2018 19;13(8):822-828. Epub 2018 Sep 19.

a Institut für Humangenetik , Universitätsklinikum Essen, Universität Duisburg-Essen , Essen , Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/15592294.2018.1514233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224218PMC
March 2019

The origin of the RB1 imprint.

PLoS One 2013 25;8(11):e81502. Epub 2013 Nov 25.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0081502PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3839921PMC
August 2014