Associated Papers
Novel KMT5B De Novo Variants Disrupt DNA Damage Response in Intellectual Disability.
Hu X et al.
Qjm : Monthly Journal of the Association of Physicians, 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
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
Systematic reconstruction of autism biology from massive genetic mutation profiles.
Luo W et al.
Science Advances, 2018
29651456 (PubMed )
Supplement: 1701799_TableS5.xlsx › missense
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Stessman HA et al.
Nature Genetics, 2017
28191889 (PubMed )
Supplement: NIHMS846201-supplement-1.pdf
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6
Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.
Li J et al.
Molecular Psychiatry, 2016
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
Turner TN et al.
American Journal of Human Genetics, 2016
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