Associated Papers
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.
Micale L et al.
European Journal of Human Genetics : Ejhg, 2025
ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report.
Jumayeva G et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2025
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Prospective Clinical Genomic Profiling of Ewing Sarcoma: ERF and FGFR1 Mutations as Recurrent Secondary Alterations of Potential Biologic and Therapeutic Relevance.
Ogura K et al.
Jco Precision Oncology, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
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
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2
Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing.
Yoon JG et al.
Neurosurgery, 2020
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
Genetic advances in craniosynostosis.
Lattanzi W et al.
American Journal of Medical Genetics. Part A, 2017
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.
Balasubramanian M et al.
Journal of Medical Genetics, 2017
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
Select a paper to view details