Associated Papers
Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis.
Goto Y et al.
Scientific Reports, 2025
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML et al.
European Journal of Human Genetics : Ejhg, 2024
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Spataro N et al.
Genes, 2023
36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1
Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.
Almubarak A et al.
Genes, 2022
Intrafamilial variability in six family members with ERF-related craniosynostosis syndrome type 4.
Moddemann MK et al.
American Journal of Medical Genetics. Part A, 2022
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
Singh R et al.
Cold Spring Harbor Molecular Case Studies, 2021
34117072 (PubMed )
Supplement: supp_mcs.a005991_Supplemental_Material.pdf
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
Glass GE et al.
American Journal of Medical Genetics. Part A, 2019
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
Twigg SR et al.
Nature Genetics, 2013
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