Associated Papers
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
41153391 (PubMed )
Supplement: genes-16-01174-s001.zip › Supplementary_table_1.xlsx › Foglio1
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
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Faundes V et al.
American Journal of Human Genetics, 2018
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