1. 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) ↗
2. Determination of serum cholestane-3β, 5α, 6β-triol by gas chromatography–mass spectrometry for identification of Niemann-Pick type C (NPC) disease. Issue 169 (May 2017) Authors: Kannenberg, Frank; Nofer, Jerzy-Roch; Schulte, Erhard; Reunert, Janine; Marquardt, Thorsten; Fobker, Manfred Journal: Journal of steroid biochemistry and molecular biology Issue: Issue 169(2017) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patient. (16th August 2021) Authors: Gunzer, Sophia; Kraus, Andreas; Buchroth, Inka; Grüneberg, Marianne; Westermann, Cordula; Biskup, Saskia; Reunert, Janine; Grünewald, Inga; Marquardt, Thorsten Journal: Liver international Issue: Volume 41:Number 10(2021) Page Start: 2427 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Issue 1 (1st October 2021) Authors: Zech, Michael; Kumar, Kishore R.; Reining, Sophie; Reunert, Janine; Tchan, Michel; Riley, Lisa G.; Drew, Alexander P.; Adam, Robert J.; Berutti, Riccardo; Biskup, Saskia; Derive, Nicolas; Bakhtiari, Somayeh; Jin, Sheng Chih; Kruer, Michael C.; Bardakjian, Tanya; Gonzalez‐Alegre, Pedro; Keller Sar... Journal: Movement disorders Issue: Volume 37:Issue 1(2022) Page Start: 137 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. A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. Issue 12 (14th September 2016) Authors: Hogrebe, Max; Murakami, Yoshiko; Wild, Martin; Ahlmann, Martina; Biskup, Saskia; Hörtnagel, Konstanze; Grüneberg, Marianne; Reunert, Janine; Linden, Tobias; Kinoshita, Taroh; Marquardt, Thorsten Journal: American journal of medical genetics Issue: Volume 170:Issue 12(2016) Page Start: 3319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing. (July 2021) Authors: Quitmann, Christina M.; Rust, Stephan; Reunert, Janine; Biskup, Saskia; Fiedler, Barbara; Marquardt, Thorsten Journal: Child neurology open Issue: Volume 8(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. 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) ↗
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) ↗