Christa M. de Geus

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra et al. · European Journal of Human Genetics · 2016 · 148 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans et al. · The American Journal of Human Genetics · 2021 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Alexander J.M. Dingemans, Kim M. G. Truijen, Sam van de Ven et al. · Translational Psychiatry · 2022 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

Emma M. Wade, Zandra A. Jenkins, Philip B. Daniel et al. · American Journal of Medical Genetics Part A · 2017 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

TREM2 risk variants and associated endophenotypes in alzheimer’s disease

Janna I.R. Dijkstra, Lisa Vermunt, Vikram Venkatraghavan et al. · Alzheimer s Research & Therapy · 2025 · 15 citations · Full text

Medicine, Molecular Genetics, Neurology +16