Associated Papers
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.
Nishi E et al.
Molecular Genetics & Genomic Medicine, 2024
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.
Yang X et al.
Bmc Medicine, 2024
38281914 (PubMed )
Supplement: 12916_2024_3257_MOESM1_ESM.xlsx › Table_S4
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel
Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome.
Yang Q et al.
Frontiers in Pediatrics, 2023
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Zanoni P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Dong X et al.
Communications Biology, 2020
31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1
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