1. A C‐terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR‐associated syndromic microphthalmia. Issue 4 (26th July 2021) Authors: Schwaibold, Eva Maria Christina; Brugger, Melanie; Wagner, Matias Journal: Clinical genetics Issue: Volume 100:Issue 4(2021) Page Start: 489 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype. Issue 4 (12th February 2022) Authors: Vogel, Florian D.; Krenn, Martin; Westphal, Dominik S.; Graf, Elisabeth; Wagner, Matias; Leiz, Steffen; Koniuszewski, Filip; Augé‐Stock, Maximilian; Kramer, Georg; Scholze, Petra; Ernst, Margot Journal: Epilepsia Issue: Volume 63:Issue 4(2022) Page Start: e35 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy. Issue 1 (1st December 2020) Authors: Brugger, Melanie; Becker‐Dettling, Fiona; Brunet, Theresa; Strom, Tim; Meitinger, Thomas; Lurz, Eberhard; Borggraefe, Ingo; Wagner, Matias Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 1(2021) Page Start: 278 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy. Issue 1 (1st December 2020) Authors: Brugger, Melanie; Becker‐Dettling, Fiona; Brunet, Theresa; Strom, Tim; Meitinger, Thomas; Lurz, Eberhard; Borggraefe, Ingo; Wagner, Matias Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 1(2021) Page Start: 278 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing. (August 2019) Authors: Krenn, Martin; Milenkovic, Ivan; Eckstein, Gertrud; Zimprich, Fritz; Meitinger, Thomas; Foki, Thomas; Wagner, Matias Journal: Neurology Issue: Volume 5:Number 4(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response. (February 2020) Authors: Gasser, Marius; Boonsimma, Ponghatai; Netbaramee, Wiracha; Wechapinan, Thanin; Srichomthomg, Chalurmpon; Ittiwut, Chupong; Krenn, Martin; Zimprich, Fritz; Milenkovic, Ivan; Abicht, Angela; Biskup, Saskia; Roser, Timo; Shotelersuk, Vorasuk; Tacke, Moritz; Kuersten, Marianne; Wagner, Matias; Borggr... Journal: Journal of clinical neuroscience Issue: Volume 72(2020) Page Start: 31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder. Issue 3 (27th February 2020) Authors: Brunet, Theresa; Radivojkov‐Blagojevic, Milena; Lichtner, Peter; Kraus, Verena; Meitinger, Thomas; Wagner, Matias Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 3(2020) Page Start: 390 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. Issue 5 (11th April 2019) Authors: Krenn, Martin; Knaus, Alexej; Westphal, Dominik S.; Wortmann, Saskia B.; Polster, Tilman; Woermann, Friedrich G.; Karenfort, Michael; Mayatepek, Ertan; Meitinger, Thomas; Wagner, Matias; Distelmaier, Felix Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 5(2019) Page Start: 968 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis. (December 2020) Authors: Radelfahr, Florentine; Riedhammer, Korbinian M.; Keidel, Leonie F.; Gramer, Gwendolyn; Meitinger, Thomas; Klopstock, Thomas; Wagner, Matias Journal: Neurology Issue: Volume 6:Number 6(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph. (3rd September 2021) Authors: Peng, Chengyao; Dieck, Simon; Schmid, Alexander; Ahmad, Ashar; Knaus, Alexej; Wenzel, Maren; Mehnert, Laura; Zirn, Birgit; Haack, Tobias; Ossowski, Stephan; Wagner, Matias; Brunet, Theresa; Ehmke, Nadja; Danyel, Magdalena; Rosnev, Stanislav; Kamphans, Tom; Nadav, Guy; Fleischer, Nicole; Fröhlich,... Journal: NAR genomics and bioinformatics Issue: Volume 3:issue 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗