Author

Kim M. G. Truijen

Observed names: Kim M G Truijen, Kim Truijen

Institutions: Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour

Observed institutions: Radboud University Nijmegen, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour

OpenAlex ID: A5028021645

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

2023 · Alexander J. M. Dingemans, Max Hinne, et al. · Nature Genetics · 69

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

2021 · Alexander J. M. Dingemans, Kim M. G. Truijen, et al. · European Journal of Human Genetics · 41

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

2022 · Alexander J. M. Dingemans, Kim M. G. Truijen, et al. · Translational Psychiatry · 35

Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information

2021 · Alexander J. M. Dingemans, Diante E. Stremmelaar, et al. · American Journal of Medical Genetics Part A · 21

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

2022 · Alexander J M Dingemans, Max Hinne, et al. · medRxiv · 6

Works count: 5

Citation count: 172

H-index: 5

I10-index: 4