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
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Kaspi A et al.
Molecular Psychiatry, 2023
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
An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.
Chen J et al.
Frontiers in Genetics, 2022
36118902 (PubMed )
Supplement: DataSheet1.XLSX › TableS2
Noonan syndrome-like phenotype in a patient with heterozygous ERF truncating variant.
Yamada M et al.
Congenital Anomalies, 2021
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
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo
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
Exome Sequencing of African-American Prostate Cancer Reveals Loss-of-Function ERF Mutations.
Huang FW et al.
Cancer Discovery, 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
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