Björn Fischer-Zirnsak

14PUBLICATIONS
70CO-AUTHORS
NeurogeneticsMetabolic medicineChemical and thermal processes in energy and combustionDevelopmental genetics (incl. sex determination)Infant and child health
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Publications (14)

|Jun 26, 2026
Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability.

|Apr 03, 2026
A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics.

Felix Boschann, Johannes Kopp, Susanne Römer

|Aug 20, 2025
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.

Jean Jacobs, Hristiana Lyubenova, Sven Potelle

|Dec 16, 2024
Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.

Johannes Kopp, Denise Jahn, Guido Vogt

|Apr 09, 2024
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.

Johannes Kopp, Leonard A Koch, Hristiana Lyubenova

|Feb 21, 2023
Aorto-aortic bypass in an infant with middle aortic syndrome and Marfan syndrome: a 15-year follow-up.

Roland Heck, Björn Fischer-Zirnsak, Joachim Photiadis

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Frequent Collaborators

5 joint publications

Stefan Mundlos

5 joint publications

Uwe Kornak

4 joint publications

Guido Vogt

4 joint publications

Manuel Holtgrewe