Melanie Brügger

<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

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews et al. · Cell Reports · 2022 · 51 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Syndromic Autism +10

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini et al. · The American Journal of Human Genetics · 2023 · 39 citations · Full text

Neuromodulation (Medicine), Neurophysiology, Progressive Neurodegeneration +8

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

Pathogenic variants in <i>SMARCA5</i> , a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Dong Li, Qin Wang, Naihua N. Gong et al. · Science Advances · 2021 · 32 citations · Full text