Björn Fischer-Zirnsak

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 13

Top Venues

Human genetics

Journal of human genetics

Journal of inherited metabolic disease

Proceedings of the National Academy of Sciences of the United States of America

Charité Universitätsmedizin Berlin

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Charité Universitätsmedizin Berlin

Germany

Staff scientist :: Institute for Medical Genetics and Human Genetics

Publications

Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Roland Heck, Björn Fischer-Zirnsak, Joachim Photiadis, Denise Horn, Petra Gehle
Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2. Interactive cardiovascular and thoracic surgery 35 (1) (2022)
Vinzenz May, Leonard Koch, Björn Fischer-Zirnsak, Denise Horn, Petra Gehle, Uwe Kornak, Dieter Beule, Manuel Holtgrewe
ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise. Bioinformatics (Oxford, England) 38 (16) (2022)
Robin Steinhaus, Felix Boschann, Melanie Vogel, Björn Fischer-Zirnsak, Dominik Seelow
AutozygosityMapper: Identification of disease-mutations in consanguineous families. Nucleic acids research (2022)
Felix Boschann, Daniel Acero Moreno, Martin A Mensah, Henrike L Sczakiel, Karolina Skipalova, Manuel Holtgrewe, Stefan Mundlos, Björn Fischer-Zirnsak
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome). Journal of human genetics 67 (7) (2022)
Guido Vogt, Sarah Verheyen, Sarina Schwartzmann, Nadja Ehmke, Cornelia Potratz, Anette Schwerin-Nagel, Barbara Plecko, Manuel Holtgrewe, Dominik Seelow, Jasmin Blatterer, Michael R Speicher, Uwe Kornak, Denise Horn, Stefan Mundlos, Björn Fischer-Zirnsak, Felix Boschann
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive. Journal of medical genetics (2021)
Guido Vogt, Naji El Choubassi, Ágnes Herczegfalvi, Heike Kölbel, Anja Lekaj, Ulrike Schara, Manuel Holtgrewe, Sabine Krause, Rita Horvath, Markus Schuelke, Christoph Hübner, Stefan Mundlos, Andreas Roos, Hanns Lochmüller, Veronika Karcagi, Uwe Kornak, Björn Fischer-Zirnsak
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. Journal of inherited metabolic disease 44 (4) (2021)
Miguel Rodriguez de Los Santos, Marion Rivalan, Friederike S David, Alexander Stumpf, Julika Pitsch, Despina Tsortouktzidis, Laura Moreno Velasquez, Anne Voigt, Karl Schilling, Daniele Mattei, Melissa Long, Guido Vogt, Alexej Knaus, Björn Fischer-Zirnsak, Lars Wittler, Bernd Timmermann, Peter N Robinson, Denise Horn, Stefan Mundlos, Uwe Kornak, Albert J Becker, Dietmar Schmitz, York Winter, Peter M Krawitz
A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. Proceedings of the National Academy of Sciences of the United States of America 118 (2) (2021)
Björn Fischer-Zirnsak, Rainer Koenig, Franz Alisch, Nilay Güneş, Ingrid Hausser, Namrata Saha, Stefanie Beck-Woedl, Tobias B Haack, Christian Thiel, Clemens Kamrath, Beyhan Tüysüz, Stephan Henning, Stefan Mundlos, Katrin Hoffmann, Denise Horn, Uwe Kornak
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. Journal of human genetics 64 (7) (2019)

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Publication Activity (10 Years)

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Björn Fischer-Zirnsak