Author

Björn Fischer‐Zirnsak

Berlin Institute of Health at Charité - Universitätsmedizin BerlinORCID 0000-0002-1075-7571Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 2 Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:mouse· 1

Frequent Co-Authors

Uwe KornakiD· 4 shared Alexej KnausiD· 3 shared Stefan MundlosiD· 3 shared Denise HorniD· 2 shared Malte SpielmanniD· 2 shared Nadja EhmkeiD· 2 shared Peter Michael KrawitziD· 2 shared Abigail LohiD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 34 mutual co-author links

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4 shared papersBioinformatics

Uwe KornakORCID

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4 papers

Recent·Most cited

PYCR1 Levels Track with Premature and Chronological Skin Aging

Kortessa Sotiropoulou, Saniye Yumlu, Tomoko Hirano, Michael Maier, Abigail Loh, Peh Fern Ong, Onn Siong Yim, Chunping Liu, Emmanuel Vial, Umut Altunoğlu, Sheela Nampoothiri, Deepthi De Silva, Björn Fischer‐Zirnsak, Hülya Kayserili, Poh San Lai, , Bruno Reversade

The paper investigates PYCR1 levels in skin aging, finding they decrease with both induced and chronological aging in human skin.

medRxiv · May 24, 2023 · PreprintGenetic & Genomic Medicine

A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions

Miguel Rodríguez de los Santos, Marion Rivalan, Friederike Sophie 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, , Peter Michael Krawitz

This paper introduces a CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency that mirrors human phenotypes, including cognitive impairments and epilepsy, and identifies synaptic transmission deficits.

Proceedings of the National Academy of Sciences · Jan 5, 2021Peer-reviewedNeuroscience

VarFish - Collaborative and Comprehensive Variant Analysis for Diagnosis and Research

Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen, Stefan Mundlos, Alexej Knaus, Uwe Kornak, Dominik Seelow, Lara Segebrecht, Malte Spielmann, Björn Fischer‐Zirnsak, Felix Boschann, Ute I. Scholl, Nadja Ehmke, Dieter Beule

VarFish is a web application for variant analysis in rare disease genetics, offering quality control, filtering, annotation, and collaboration tools for diagnostic and research use.

bioRxiv · Jan 27, 2020 · PreprintBioinformatics

PEDIA: Prioritization of Exome Data by Image Analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis Eduardo Becerra-Solano, Heidi Beate Bentzen, Saskia Biskup, Oleg Borisov, Øivind Braaten, Claudia Ciaccio, Marie Coutelier, Kirsten Cremer, Magdalena Danyel, , Peter Michael Krawitz

The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.

Genetics in Medicine · Jun 4, 2019Peer-reviewedBioinformatics