1. AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders. Issue 12 (14th September 2022) Authors: Lieberwirth, Johann Kaspar; Büttner, Benjamin; Klöckner, Chiara; Platzer, Konrad; Popp, Bernt; Abou Jamra, Rami Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1795 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Current practice in diagnostic genetic testing of the epilepsies. Issue 5 (3rd November 2022) Authors: Krey, Ilona; Platzer, Konrad; Esterhuizen, Alina; Berkovic, Samuel F.; Helbig, Ingo; Hildebrand, Michael S.; Lerche, Holger; Lowenstein, Daniel; Møller, Rikke S.; Poduri, Annapurna; Sadleir, Lynette; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Wilmshurst, Jo M.; Weber, Yvonne; Lemke, Johannes R. Journal: Epileptic disorders Issue: Volume 24:Issue 5(2022) Page Start: 765 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission. Issue 6 (8th September 2022) Authors: Platzer, Konrad; Sticht, Heinrich; Bupp, Caleb; Ganapathi, Mythily; Pereira, Elaine M.; Le Guyader, Gwenaël; Bilan, Frederic; Henderson, Lindsay B.; Lemke, Johannes R.; Taschenberger, Holger; Brose, Nils; Abou Jamra, Rami; Wojcik, Sonja M. Journal: Annals of neurology Issue: Volume 92:Issue 6(2022) Page Start: 958 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy. (28th October 2022) Authors: Döring, Jan H.; Saffari, Afshin; Bast, Thomas; Brockmann, Knut; Ehrhardt, Laura; Fazeli, Walid; Janzarik, Wibke G.; Klabunde-Cherwon, Annick; Kluger, Gerhard; Muhle, Hiltrud; Pendziwiat, Manuela; Møller, Rikke S.; Platzer, Konrad; Santos, Joana Larupa; Schröter, Julian; Hoffmann, Georg F.; Kölker... Journal: Neurology Issue: Volume 8:Number 5(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. Issue 8 (5th May 2014) Authors: Platzer, Konrad; Hüning, Irina; Obieglo, Carolin; Schwarzmayr, Thomas; Gabriel, Rainer; Strom, Tim M.; Gillessen‐Kaesbach, Gabriele; Kaiser, Frank J. Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 1976 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the phenotype of TAB2 variants and literature review. Issue 11 (16th August 2022) Authors: Woods, Emily; Marson, Imogen; Coci, Emanuele; Spiller, Michael; Kumar, Ajith; Brady, Angela; Homfray, Tessa; Fisher, Richard; Turnpenny, Peter; Rankin, Julia; Kanani, Farah; Platzer, Konrad; Ververi, Athina; Emmanouilidou, Eleftheria; Bourboun, Nourxan; Giannakoulas, George; Balasubramanian, Meena Journal: American journal of medical genetics Issue: Volume 188:Issue 11(2022) Page Start: 3331 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Issue 7 (4th April 2017) Authors: Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter;... Journal: Journal of medical genetics Issue: Volume 54:Issue 7(2017) Page Start: 460 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy. Issue 1 (2nd January 2014) Authors: Lemke, Johannes R.; Hendrickx, Rik; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Harvey, Robert J.; James, Victoria M.; Pepler, Alex; Steiner, Isabelle; Hörtnagel, Konstanze; Neidhardt, John; Ruf, Susanne; Wolff, Markus; Bartholdi, Deborah; Caraballo, Roberto; Platzer, Konrad; Suls, Arvid; De,... Journal: Annals of neurology Issue: Volume 75:Issue 1(2014:Jan.) Page Start: 147 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development. Issue 2 (31st August 2018) Authors: Platzer, Konrad; Cogné, Benjamin; Hague, Jennifer; Marcelis, Carlo L.; Mitter, Diana; Oberndorff, Katrin; Park, Soo‐Mi; Ploos van Amstel, Hans K.; Simonic, Ingrid; van der Smagt, Jasper J.; Stegmann, Alexander P.A.; Stevens, Servi J.C.; Stumpel, Constance T.R.M.; Vincent, Marie; Lemke, Johannes R... Journal: Annals of neurology Issue: Volume 84:Issue 2(2018) Page Start: 200 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development. Issue 2 (31st August 2018) Authors: Mitter, Diana; Lemke, Johannes R.; Platzer, Konrad; Jamra, Rami; Ploos van Amstel, Hans K.; van der Smagt, Jasper J.; Stegmann, Alexander P.A.; Stumpel, Constance T.R.M.; Stevens, Servi J.C.; Oberndorff, Katrin; Marcelis, Carlo L.; Cogné, Benjamin; Vincent, Marie; Simonic, Ingrid; Hague, Jennifer... Journal: Annals of neurology Issue: Volume 84:Issue 2(2018) Page Start: 200 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗