Associated Papers
Novel Compound Heterozygous Variants in ZNF526 Causing Dentici-Novelli Neurodevelopmental Syndrome: A Case Report and Literature Review.
Li S et al.
Molecular Genetics & Genomic Medicine, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
39009827 (PubMed )
Supplement: 44320_2024_55_MOESM10_ESM.xlsx › Peptides
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.
Dentici ML et al.
Journal of Medical Genetics, 2022
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM et al.
Cell Reports, 2015
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