Frederik Braun

7PUBLICATIONS
104CO-AUTHORS
NeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Microelectromechanical systems (MEMS)Epigenetics (incl. genome methylation and epigenomics)Craniofacial biology
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Publications (7)

|May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

|Apr 08, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Rocio Rius, Alexander J M Blakes, Yuyang Chen

|Jun 21, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Hellen Lesmann, Alexander Hustinx, Shahida Moosa

|Oct 04, 2022
Neuromuscular Features in XL-MTM Carriers: A Cross-sectional Study in an Unselected Cohort.

Daniëlle K Franken, Karlijn Bouman, Stacha F I Reumers

|Aug 07, 2021
Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.

Frederik Braun, Andreas Hentschel, Albert Sickmann

|Jul 21, 2021
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.

Frederik Braun, Andrea Gangfuß, Petra Stöbe

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Frequent Collaborators

3 joint publications

Tobias B Haack

3 joint publications

Hannah Klinkhammer

3 joint publications

Alexander Hustinx

2 joint publications

Stacha F I Reumers