Associated Papers
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.
Pepe D et al.
American Journal of Human Genetics, 2025
40359938 (PubMed )
Supplement: mmc5.xlsx › nSMs
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.
Ng A et al.
Bmc Neurology, 2020
32546208 (PubMed )
Supplement: 12883_2020_1798_MOESM7_ESM.xlsx › Sheet1
Update on KMT2B-Related Dystonia.
Zech M et al.
Current Neurology and Neuroscience Reports, 2019
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM4_ESM.pdf
Mutational signatures and the genomic landscape of betel quid chewing-associated tongue carcinoma.
Zhang W et al.
Cancer Medicine, 2019
30672146 (PubMed )
Supplement: CAM4-8-701-s012.xlsx › Table_S11
KMT2B rare missense variants in generalized dystonia.
Zech M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS et al.
Jama Psychiatry, 2017
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Meyer E et al.
Nature Genetics, 2017
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