1. Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. Issue 9 (25th July 2017) Authors: Horn, Denise; Siebert, Eberhard; Seidel, Ulrich; Rost, Imma; Mayer, Karin; Abou Jamra, Rami; Mitter, Diana; Kornak, Uwe Journal: American journal of medical genetics Issue: Volume 173:Issue 9(2017) Page Start: 2534 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center. (January 2020) Authors: Hoelz, Hannes; Herdl, Christian; Gerstl, Lucia; Tacke, Moritz; Vill, Katharina; von Stuelpnagel, Celina; Rost, Imma; Hoertnagel, Konstanze; Abicht, Angela; Hollizeck, Sebastian; Larsen, Line H. G.; Borggraefe, Ingo Journal: Clinical EEG and neuroscience Issue: Volume 51:Number 1(2020) Page Start: 61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Limited sensitivity of NGS-based detection of unbalanced products from reciprocal translocations inpolar bodies and blastocysts. (April 2019) Authors: Osetek, Katarzyna; Kotanidou, Alexandra; Harasim, Thomas; Wagner, Annett; Rost, Imma; Klein, Hanns-Georg Journal: Reproductive biomedicine online Issue: Volume 38(2019)Supplement 1 Page Start: e33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms. (22nd March 2020) Authors: Moscu‐Gregor, Alexander; Marschall, Christoph; Müntjes, Carsten; Schönecker, Anne; Schuessler‐Hahn, Franziska; Hohendanner, Felix; Parwani, Abdul Shokor; Boldt, Leif‐Hendrik; Ott, Claus‐Eric; Bennewiz, Anja; Paul, Thomas; Krause, Ulrich; Rost, Imma Journal: Journal of cardiovascular electrophysiology Issue: Volume 31:Number 6(2020) Page Start: 1527 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. (13th September 2016) Authors: Johannesen, Katrine; Marini, Carla; Pfeffer, Siona; Møller, Rikke S.; Dorn, Thomas; Niturad, Christina; Gardella, Elena; Weber, Yvonne; Søndergård, Marianne; Hjalgrim, Helle; Nikanorova, Mariana; Becker, Felicitas; Larsen, Line H.G.; Dahl, Hans A.; Maier, Oliver; Mei, Davide; Biskup, Saskia; Klei... Journal: Neurology Issue: Volume 87:Number 11(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Prenatalis® NIPT: accredited high resolution non-invasive prenatal testing by using massive parallel ultra- deep sequencing. (March 2018) Authors: Harasim, Thomas; Wagner, Annett; Rath, Sabine; Benhaqi, Petra; Kotanidou, Alexandra; Rost, Imma; Klein, Hanns-Georg Journal: Reproductive biomedicine online Issue: Volume 36(2018)Supplement 1 Page Start: e40 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗