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Sandrina Weber

10

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98

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Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.

2021 Brain
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Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.

2021 Parkinsonism & Related Disorders
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De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.

2021 Clinical Genetics
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A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions.

2020 Gene
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A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder

2018
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Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls

2016 Parkinsonism & Related Disorders
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Citations (2)