Concepedia

Axel Schmidt

AS

Statistics

Publications

29

Citations

1.2K

H-Index

20

Active since

2014

Affiliations

University Hospital Bonn(Current)

University of Bonn

RWTH Aachen University

University of Tübingen

Technical University of Munich

Axel Schmidt is an author at University Hospital Bonn specializing in life sciences, genetics, and medical genetics.

ORCID

Publications per year

2014–2025

29

Publications

29

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa et al. · Nature Genetics · 2022 · 208 citations · Full text

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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 · 98 citations · Full text

, , +17

Predicting the pathogenicity of missense variants using features derived from AlphaFold2

Axel Schmidt, Sebastian Röner, Karola Mai et al. · Bioinformatics · 2023 · 69 citations · Full text

, , +16

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 · 66 citations · Full text

, , +17

TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

Axel Schmidt, Sophia Peters, Alexej Knaus et al. · npj Genomic Medicine · 2021 · 59 citations · Full text

, , +14

1–5 of 29