Associated Papers
ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.
Zhou Y et al.
Science Advances, 2023
37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S1.xlsx › Genomic_data
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP
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_
Targeted next generation sequencing reveals high mutation frequency of CREBBP, BCL2 and KMT2D in high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.
Evrard SM et al.
Haematologica, 2019
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
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P et al.
Clinical Genetics, 2013
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