0000-0002-3771-3800 Employment
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Institute Of Neurology Bioinformatician2015 - Present
Education
Education history is unavailable.
Projects & Funding
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Publications (30)
- p.L1795F LRRK2 variant is a common cause of Parkinson’s disease in Central Europe Save
- Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders Save
- Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders Save
- Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications Save
- ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations Save
- Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders Save
- Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking Save
- TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease Save
- TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition Save
- Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy Save