J. Coenen-van der Spek

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

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

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.

R. Pfundt, S. Skinner, R. Louie, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2023, Nature Genetics.