Publications of Björn Fischer-Zirnsak

Kopp, J.; Jahn, D.; Vogt, G.; Psoma, A.; Ratto, E.; Morelle, W.; Stelzer, N.; Hausser , I.; Hoffmann, A.; de Los Santos, M. R. et al.; Koch, L. A.; Fischer-Zirnsak, B.; Thiel, C.; Palm, W.; Meierhofer, D.; van den Bogaart, G.; Foulquie, F.; Meinhardt, A.; Kornak, U.: Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia. Cellular and Molecular Life Sciences 82 (1), Article 4 (2024)

Kopp, J.; Koch, L. A.; Lyubenova, H.; Küchler, O.; Holtgrewe, M.; Ivanov, A.; Dubourg, C.; Launay, E.; Brachs, S.; Mundlos, S. et al.; Ehmke, N.; Seelow, D.; Fradin, M.; Kornak, U.; Fischer-Zirnsak, B.: Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human Genetics 143 (5), pp. 683 - 694 (2024)

Boschann, F.; Cogulu, M. Ö.; Pehlivan, D.; Balachandran, S.; Vallecillo-Garcia, P.; Grochowski, C. M.; Hansmeier, N. R.; Coban Akdemir, Z. H.; Prada-Medina, C. A.; Aykut, A. et al.; Fischer-Zirnsak, B.; Badura, S.; Durmaz, B.; Ozkinay, F.; Hägerling, R.; Posey, J. E.; Stricker, S.; Gillessen-Kaesbach, G.; Spielmann, M.; Horn, D.; Brockmann, K.; Lupski, J. R.; Kornak, U.; Schmidt, J.: Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. GENETICS IN MEDICINE 24 (10), pp. 2187 - 2193 (2022)

Heck, R.; Fischer-Zirnsak, B.; Photiadis, J.; Horn, D.; Gehle, P.: Different ascending aortic phenotypes with similar mutations in two patients with Loeys-Dietz-Syndrome type 2. Interactive CardioVascular and Thoracic Surgery 35 (1), ivac159 (2022)