K. Truijen

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

Baralle, A. V. Vulto-van Silfhout, L. Vissers, 2022, medRxiv.

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

L. Vissers, B. D. de Vries, E. Eichler, 2022, Translational Psychiatry.

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

L. Vissers, J. Gécz, B. D. de Vries, 2021, American journal of medical genetics. Part A.

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

A. V. Vulto-van Silfhout, L. Vissers, B. D. de Vries, 2021, European Journal of Human Genetics.