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
38511490 (PubMed )
Supplement: PRO-33-e4953-s004.pdf
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
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.
Jezela-Stanek A 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
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