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Publications

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene

Amniotic band syndrome and limb body wall complex in Europe 1980-2019

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): Genotype and phenotype of 22 patients with ZNF148 mutations

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma

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

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