Elke de Boer

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 633 citations · Full text

Mendelian Disorder, Medicine, Genetic Epidemiology +9

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 80 citations · Full text

Down Syndrome, Deletion Syndrome, Developmental Biology +11

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

Marialetizia Motta, Giulia Fasano, Sina Gredy et al. · The American Journal of Human Genetics · 2021 · 77 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

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