Joery den Hoed

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

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin et al. · The American Journal of Human Genetics · 2021 · 54 citations · Full text

Neurodevelopmental Disorders, Different Neurodevelopmental Disorders, Neurodegenerative Diseases +15

The Ncoa7 locus regulates V-ATPase formation and function, neurodevelopment and behaviour

Enrico Castroflorio, Joery den Hoed, Mattéa J. Finelli et al. · Cellular and Molecular Life Sciences · 2020 · 52 citations · Full text

Functional characterization of TBR1 variants in neurodevelopmental disorder

Joery den Hoed, Elliot Sollis, Hanka Venselaar et al. · Scientific Reports · 2018 · 35 citations · Full text

Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities

Lot Snijders Blok, Arianna Vino, Joery den Hoed et al. · Genetics in Medicine · 2020 · 30 citations · Full text