Associated Papers
A de novo variant of RERE was identified in a patient with neurodevelopmental disorder, enuresis and scoliosis.
Cai T et al.
Scientific Reports, 2025
Correction to "Genotype-phenotype correlations in individuals with pathogenic RERE variants".
Unknown Author
Human Mutation, 2025
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 2023
37291213 (PubMed )
Supplement: 41591_2023_2401_MOESM1_ESM.pdf
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4
RERE deficiency contributes to the development of orofacial clefts in humans and mice.
Kim BJ et al.
Human Molecular Genetics, 2021
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.
Moccia A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Jordan VK et al.
Human Mutation, 2018
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
Fregeau B et al.
American Journal of Human Genetics, 2016
Select a paper to view details