Kim M. G. Truijen

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

Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen et al. · Nature Genetics · 2023 · 67 citations · Full text

Phenotypic Variation, Engineering, Machine-learning Framework +12

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

Alexander J.M. Dingemans, Kim M. G. Truijen, Jung‐Hyun Kim et al. · European Journal of Human Genetics · 2021 · 35 citations · Full text

Developmental Anomaly, Mendelian Disorder, Genetic Disorder +8

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

Alexander J.M. Dingemans, Kim M. G. Truijen, Sam van de Ven et al. · Translational Psychiatry · 2022 · 32 citations · Full text

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

Alexander J.M. Dingemans, Diante E. Stremmelaar, Lisenka E.L.M. Vissers et al. · American Journal of Medical Genetics Part A · 2021 · 21 citations · Full text