Hannah Klinkhammer

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

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

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

Gholson J. Lyon, Marall Vedaie, Travis Beisheim et al. · European Journal of Human Genetics · 2023 · 49 citations · Full text

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

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence

Emadeldin Hassanin, Isabel Spier, Dheeraj Reddy Bobbili et al. · BMC Medical Genomics · 2023 · 27 citations · Full text