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Joohyun Park

University of Tübingen

8

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22

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Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data.

2021 Molecular Genetics & Genomic Medicine
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Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.

2021 Human Molecular Genetics
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Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al.

2021 Genetics in Medicine
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KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum

2019 Annals of clinical and translational neurology
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