Associated Papers
Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.
Doğan Arı AB et al.
European Journal of Medical Genetics, 2025
Multi-omics profiling of longitudinal samples reveals early genomic changes in follicular lymphoma.
Bai B et al.
Blood Cancer Journal, 2024
39191762 (PubMed )
Supplement: 41408_2024_1124_MOESM2_ESM.xlsx › Table_S3
Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer.
Liu R et al.
Cancer Science, 2023
36601880 (PubMed )
Supplement: CAS-114-1229-s004.xlsx › Mutation_information_
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Micale L et al.
Human Mutation, 2014
24633898 (PubMed )
Supplement: humu0035-0841-SD2.pdf
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