1. 12q24.33 deletion: Report of a patient with intellectual disability and review of the literature. Issue 6 (23rd April 2013) Authors: Kehrer, Martin; Singer, Sylke; Grasshoff, Ute; Schäferhoff, Karin; Bonin, Michael; Riess, Olaf; Schöning, Martin; Tzschach, Andreas Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1409 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Interstitial duplication of chromosome region 1q25.1q25.3: Report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms. (March 2015) Authors: Kehrer, Martin; Liehr, Thomas; Benkert, Tanja; Singer, Sylke; Grasshoff, Ute; Schaeferhoff, Karin; Bonin, Michael; Weichselbaum, Annette; Tzschach, Andreas Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 653 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing. Issue 10 (27th May 2021) Authors: Singer, Sylke; Gazou, Anastasia; Sturm, Marc; Demidov, German; Mazzola, Pascale; Riess, Olaf; Ossowski, Stephan; Dufke, Andreas Journal: American journal of medical genetics Issue: Volume 185:Issue 10(2021) Page Start: 3053 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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. Issue 11 (16th August 2020) Authors: Habhab, Wisam; Mau‐Holzmann, Ulrike; Singer, Sylke; Rieß, Angelika; Kagan, Karl‐Oliver; Gerbig, Ines; Schäferhoff, Karin; Dufke, Andreas; Kehrer, Martin Journal: American journal of medical genetics Issue: Volume 182:Issue 11(2020) Page Start: 2680 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗