Associated Papers
A Novel KMT5B Frameshift Variant Presenting with Autism and Psychiatric Features: Intrafamilial Phenotypic Variation - A Case Report.
Özcan S et al.
Molecular Syndromology, 2025
Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review.
Politano D et al.
Genes, 2025
Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.
Eliyahu A et al.
Frontiers in Pediatrics, 2022
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
Functional diversity and cooperativity between subclonal populations of pediatric glioblastoma and diffuse intrinsic pontine glioma cells.
Vinci M et al.
Nature Medicine, 2018
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