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Identification of the DNA methylation signature of Mowat-Wilson syndrome European Journal of Human Genetics, 32(6):619-629.
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Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles Genome Medicine, 16(72):72.
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Systematic identification of structure-specific protein–protein interactions Molecular Systems Biology, 20(6):651-675.
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Involvement of the Wnt Signaling in Methylphenidate (Ritalin) Treatment of ADHD 2024, University of Zurich, Faculty of Science.
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Macular Corneal Dystrophy - Molecular Genetics as the Key in Treatment-Refractory Keratopathy Klinische Monatsblätter für Augenheilkunde, 241(4):398-401.
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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation Nature Communications, 15(1758):1758.
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Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies 2024, University of Zurich, Faculty of Science.
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Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry Swiss Medical Weekly, 154(2):3485.
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Molecular and Phenotypic Characterization of the RORB-Related Disorder Neurology, 102(2):e207945.