Joohyun Park

7PUBLICATIONS
15CO-AUTHORS
Neurology and neuromuscular diseasesMolecular evolutionGenomics and transcriptomicsGene expression (incl. microarray and other genome-wide approaches)Gene mapping
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Publications (7)

|Oct 01, 2025
The Diverse Neuromuscular Spectrum of VPS13A Disease.

Anne Buchberger, Evamaria Riedel, Marie Hackenberg

|Jun 13, 2025
Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.

Joohyun Park, Claudia Dufke, Zofia Fleszar

|Oct 26, 2024
Reply to Battke et al. Comment on "Park et al. Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline. Genes 2024, 15, 136".

Joohyun Park, Marc Sturm, Tobias B Haack

|Jan 26, 2024
Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline.

Joohyun Park, Marc Sturm, Olga Seibel-Kelemen

|Nov 06, 2021
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.

Ruth J Falb, Amelie J Müller, Wolfram Klein

|Aug 24, 2019
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.

Joohyun Park, Bianca R Flores, Katalin Scherer

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Frequent Collaborators

4 joint publications

Tobias B Haack

3 joint publications

Marc Sturm

2 joint publications

Stephan Ossowski

1 joint publications

Eric Delpire