Associated Papers
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
Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts.
Ito T et al.
Scientific Reports, 2023
36869079 (PubMed )
Supplement: 41598_2023_30624_MOESM2_ESM.xlsx › Table_S5
Phase and context shape the function of composite oncogenic mutations.
Gorelick AN et al.
Nature, 2020
32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
Comprehensive genomic profiling of 295 cases of clinically advanced urothelial carcinoma of the urinary bladder reveals a high frequency of clinically relevant genomic alterations.
Ross JS et al.
Cancer, 2016
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
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Micale L et al.
Orphanet Journal of Rare Diseases, 2011
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