Anita Rauch
0000-0003-2930-3163
6 papers found
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PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain‐related functional pathways
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
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