Publications by authors named "Susanne Motameny"

32Publications

Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.

Am J Med Genet A 2020 Oct 13. Epub 2020 Oct 13.

Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61917DOI Listing
October 2020

Novel mutations in with benign course in hyperekplexia.

Cold Spring Harb Mol Case Stud 2019 12 13;5(6). Epub 2019 Dec 13.

Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/mcs.a004465DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913151PMC
December 2019

Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice.

Nucleus 2018 ;9(1):503-515

a Institute of Biochemistry I, Medical Faculty , University Hospital Cologne; Center for Molecular Medicine Cologne (CMMC) and Cologne Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) , Koeln , Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/19491034.2018.1523664DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244730PMC
September 2019

Deciphering the genetic basis of microcystin tolerance.

BMC Genomics 2014 Sep 9;15:776. Epub 2014 Sep 9.

University of Cologne, Cologne Biocenter, Aquatic Chemical Ecology, Zuelpicher Str, 47b, 50674 Cologne, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2164-15-776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168211PMC
September 2014

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.

PLoS One 2013 4;8(10):e76414. Epub 2013 Oct 4.

Institute of Human Genetics, University of Cologne, Cologne, Germany ; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany ; Center of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0076414PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3790679PMC
May 2014

Assessing the enrichment performance in targeted resequencing experiments.

Hum Mutat 2012 Apr 28;33(4):635-41. Epub 2012 Feb 28.

Cologne Cluster of Excellence on Cellular Stress Responses in Aging-Associated Diseases, Universität zu Köln, Cologne, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22036DOI Listing
April 2012

Polymorphic integrations of an endogenous gammaretrovirus in the mule deer genome.

J Virol 2012 Mar 21;86(5):2787-96. Epub 2011 Dec 21.

Department of Biology, The Pennsylvania State University, University Park, Pennsylvania, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1128/JVI.06859-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3302240PMC
March 2012

Next Generation Sequencing of miRNAs - Strategies, Resources and Methods.

Genes (Basel) 2010 Jun 3;1(1):70-84. Epub 2010 Jun 3.

Cologne Excellence Cluster for Cellular Stress Responses in Aging Associated Diseases (CECAD), University of Cologne, 50674 Cologne, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes1010070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960865PMC
June 2010

Identifying genes of gene regulatory networks using formal concept analysis.

J Comput Biol 2008 Mar;15(2):185-94

Center for Applied Computer Science, University of Cologne, Cologne, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/cmb.2007.0107DOI Listing
March 2008