1. 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) ↗
2. Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders. Issue 14 (18th February 2022) Authors: Brunet, Theresa; Berutti, Riccardo; Dill, Veronika; Hecker, Judith S; Choukair, Daniela; Andres, Stephanie; Deschauer, Marcus; Diehl-Schmid, Janine; Krenn, Martin; Eckstein, Gertrud; Graf, Elisabeth; Gasser, Thomas; Strom, Tim M; Hoefele, Julia; Götze, Katharina S; Meitinger, Thomas; Wagner, Matias Journal: Human molecular genetics Issue: Volume 31:Issue 14(2022) Page Start: 2386 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo variants in neurodevelopmental disorders—experiences from a tertiary care center. Issue 1 (1st March 2021) Authors: Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M.; Westphal, Dominik S.; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpál, Ján; Havránková, Petra; Pavele... Journal: Clinical genetics Issue: Volume 100:Issue 1(2021) Page Start: 14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. (13th March 2015) Authors: Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C.; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohd... Journal: Annals of clinical and translational neurology Issue: Volume 2:Number 5(2015:May) Page Start: 492 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes. Issue 9 (21st February 2020) Authors: Krenn, Martin; Wagner, Matias; Hotzy, Christoph; Graf, Elisabeth; Weber, Sandrina; Brunet, Theresa; Lorenz-Depiereux, Bettina; Kasprian, Gregor; Aull-Watschinger, Susanne; Pataraia, Ekaterina; Stogmann, Elisabeth; Zimprich, Alexander; Strom, Tim M; Meitinger, Thomas; Zimprich, Fritz Journal: Journal of medical genetics Issue: Volume 57:Issue 9(2020) Page Start: 624 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Disseminating legislative debates: How legislators communicate the parliamentary agenda. (March 2022) Authors: Huber, Lena Maria; Bodlos, Anita; Graf, Elisabeth; Meyer, Thomas M Other Names: Lockwood Sarah J. guest-editor.; Kroenke Matthias guest-editor.; Mattes Robert guest-editor. Journal: Party politics Issue: Volume 28:Number 2(2022) Page Start: 365 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. Issue 1 (5th May 2012) Authors: Haack, Tobias B.; Rolinski, Boris; Haberberger, Birgit; Zimmermann, Franz; Schum, Jessica; Strecker, Valentina; Graf, Elisabeth; Athing, Uwe; Hoppen, Thomas; Wittig, Ilka; Sperl, Wolfgang; Freisinger, Peter; Mayr, Johannes A.; Strom, Tim M.; Meitinger, Thomas; Prokisch, Holger Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 1(2013) Page Start: 55 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Interplay of cell–cell contacts and RhoA/MRTF‐A signaling regulates cardiomyocyte identity. (15th May 2018) Authors: Dorn, Tatjana; Kornherr, Jessica; Parrotta, Elvira I; Zawada, Dorota; Ayetey, Harold; Santamaria, Gianluca; Iop, Laura; Mastantuono, Elisa; Sinnecker, Daniel; Goedel, Alexander; Dirschinger, Ralf J; My, Ilaria; Laue, Svenja; Bozoglu, Tarik; Baarlink, Christian; Ziegler, Tilman; Graf, Elisabeth; H... Journal: EMBO journal Issue: Volume 37:Number 12(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing. Issue 5 (28th March 2019) Authors: Westphal, Dominik S.; Leszinski, Gloria S.; Rieger‐Fackeldey, Esther; Graf, Elisabeth; Weirich, Gregor; Meitinger, Thomas; Ostermayer, Eva; Oberhoffer, Renate; Wagner, Matias Journal: Clinical genetics Issue: Volume 95:Issue 5(2019) Page Start: 582 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease. Issue 5 (11th June 2019) Authors: Wagner, Matias; Berutti, Riccardo; Lorenz‐Depiereux, Bettina; Graf, Elisabeth; Eckstein, Gertrud; Mayr, Johannes A.; Meitinger, Thomas; Ahting, Uwe; Prokisch, Holger; Strom, Tim M.; Wortmann, Saskia B. Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 5(2019) Page Start: 909 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗