Axel Schmidt

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa et al. · Nature Genetics · 2022 · 195 citations · Full text

Face Detection, Facial Recognition System, Medicine +4

The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins

Alice Dreser, Jan Tilmann Vollrath, Antonio Sechi et al. · Cell Death and Differentiation · 2017 · 95 citations · Full text

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

Guillaume Butler‐Laporte, Gundula Povysil, Jack A. Kosmicki et al. · PLoS Genetics · 2022 · 62 citations · Full text

Genome-wide Association Study, Disease Susceptibility, Rare Variants +12

Predicting the pathogenicity of missense variants using features derived from AlphaFold2

Axel Schmidt, Sebastian Röner, Karola Mai et al. · Bioinformatics · 2023 · 61 citations · Full text

Diminazene Is a Slow Pore Blocker of Acid-Sensing Ion Channel 1a (ASIC1a)

Axel Schmidt, Giulia Rossetti, Sylvia Joussen et al. · Molecular Pharmacology · 2017 · 58 citations