E. Boer

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

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

Integrating healthcare and research genetic data empowers the discovery of 28 novel 1 developmental disorders 2 3

Patrick J. Short, M. Hurles, L. Vissers, 2020 .

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

B. D. de Vries, T. Matise, E. Boerwinkle, 2020, American journal of medical genetics. Part A.