Katharina Mayerhanser

<i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center

Theresa Brunet, Robert Jech, Melanie Brügger et al. · Clinical Genetics · 2021 · 111 citations · Full text

Neurogenomics, Brain Development, Genetics +28

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann et al. · Nature Genetics · 2024 · 34 citations · Full text

Genetic landscape of pediatric acute liver failure of indeterminate origin

Dominic Lenz, Lea D. Schlieben, Masaru Shimura et al. · Hepatology · 2023 · 26 citations · Full text

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann et al. · 2023 · 15 citations · Full text

Artificial Intelligence, Engineering, Machine Learning +21

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser et al. · Genetics in Medicine · 2020 · 14 citations · Full text