1. 3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism. Issue 6 (5th July 2021) Authors: Meyer, Melanie; Hollenbeck, Jana C.; Reunert, Janine; Seelhöfer, Anja; Rust, Stephan; Fobker, Manfred; Biskup, Saskia; Och, Ulrike; Linden, Mechthild; Sass, Jörn Oliver; Marquardt, Thorsten Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 6(2021) Page Start: 1323 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction. Issue 10 (12th May 2017) Authors: Stallmeyer, Birgit; Kuß, Johanna; Kotthoff, Stefan; Zumhagen, Sven; Vowinkel, Kirsty; Rinné, Susanne; Matschke, Lina A.; Friedrich, Corinna; Schulze-Bahr, Ellen; Rust, Stephan; Seebohm, Guiscard; Decher, Niels; Schulze-Bahr, Eric Journal: Circulation research Issue: Volume 120:Issue 10(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A mutation in the neonatal isoform of SCN2A causes neonatal‐onset epilepsy. Issue 3 (7th December 2021) Authors: Penkl, Anja; Reunert, Janine; Debus, Otfried M.; Homann, Anna; Och, Ulrike; Rust, Stephan; Marquardt, Thorsten Journal: American journal of medical genetics Issue: Volume 188:Issue 3(2022) Page Start: 941 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2. Issue 3 (27th December 2020) Authors: Reunert, Janine; van den Heuvel, Alijda; Rust, Stephan; Marquardt, Thorsten Journal: American journal of medical genetics Issue: Volume 185:Issue 3(2021) Page Start: 930 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency. Issue 6 (14th September 2020) Authors: Park, Julien H.; Mealer, Robert G.; Elias, Abdallah F.; Hoffmann, Susanne; Grüneberg, Marianne; Biskup, Saskia; Fobker, Manfred; Haven, Jaclyn; Mangels, Ute; Reunert, Janine; Rust, Stephan; Schoof, Jonathan; Schwanke, Corbin; Smoller, Jordan W.; Cummings, Richard D.; Marquardt, Thorsten Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 6(2020) Page Start: 1370 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Serotonin transporter gene methylation is associated with hippocampal gray matter volume. Issue 11 (23rd May 2014) Authors: Dannlowski, Udo; Kugel, Harald; Redlich, Ronny; Halik, Adriane; Schneider, Ilona; Opel, Nils; Grotegerd, Dominik; Schwarte, Kathrin; Schettler, Christiane; Ambrée, Oliver; Rust, Stephan; Domschke, Katharina; Arolt, Volker; Heindel, Walter; Baune, Bernhard T.; Suslow, Thomas; Zhang, Weiqi; Hohoff,... Journal: Human brain mapping Issue: Volume 35:Issue 11(2014:Nov.) Page Start: 5356 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents. Issue 4 (2nd June 2020) Authors: Park, Julien H; Ousingsawat, Jiraporn; Cabrita, Inês; Bettels, Ruth E; Große-Onnebrink, Jörg; Schmalstieg, Christian; Biskup, Saskia; Reunert, Janine; Rust, Stephan; Schreiber, Rainer; Kunzelmann, Karl; Marquardt, Thorsten Journal: Journal of medical genetics Issue: Volume 58:Issue 4(2021) Page Start: 247 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Transient N‐glycosylation abnormalities likely due to a de novo loss‐of‐function mutation in the delta subunit of coat protein I. Issue 7 (10th May 2019) Authors: Reunert, Janine; Rust, Stephan; Grüneberg, Marianne; Seelhöfer, Anja; Kurz, Daniel; Ocker, Volker; Weber, Dorothea; Fingerhut, Ralph; Marquardt, Thorsten Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1371 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1, 2‐mannnosidase‐congenital disorders of glycosylation (MAN1B1‐CDG). Issue 1 (20th March 2021) Authors: Kemme, Lisa; Grüneberg, Marianne; Reunert, Janine; Rust, Stephan; Park, Julien; Westermann, Cordula; Wada, Yoshinao; Schwartz, Oliver; Marquardt, Thorsten Journal: JIMD reports Issue: Volume 60:Issue 1(2021) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms. Issue 3 (24th April 2020) Authors: Dittner-Moormann, Sabine; Lourenco, Charles Marques; Reunert, Janine; Nishinakamura, Ryuichi; Tanaka, Satomi S; Werner, Claudius; Debus, Volker; Zimmer, Klaus-Peter; Wetzel, Gabriele; Naim, Hassan Y; Wada, Yoshinao; Rust, Stephan; Marquardt, Thorsten Journal: Journal of medical genetics Issue: Volume 58:Issue 3(2021) Page Start: 213 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗