Associated Papers
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.
Pascual-Alonso A et al.
Human Genomics, 2023
37710353 (PubMed )
Supplement: 40246_2023_532_MOESM4_ESM.xlsx › patient_cohort
A fetus with Bosch-Boonstra-Schaaf optic atrophy syndrome characterized by bilateral ventricle widening: A case report and related literature review.
Sun Y et al.
Medicine, 2022
NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
Billiet B et al.
Human Mutation, 2022
Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndrome.
Mio C et al.
Molecular Genetics & Genomic Medicine, 2020
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
Rech ME et al.
American Journal of Medical Genetics. Part A, 2020
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.
Kaiwar C et al.
Cold Spring Harbor Molecular Case Studies, 2017
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Chen CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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