Associated Papers
Disrupted protein interaction dynamics in a genetic neurodevelopmental disorder revealed by structural bioinformatics and genetic code expansion.
Marino V et al.
Protein Science : a Publication of the Protein Society, 2024
Effective treatment of NR2F1-related epilepsy with perampanel.
Li X et al.
Acta Epileptologica, 2024
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
Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.
Bertacchi M et al.
Cells, 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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