Associated Papers
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.
Nishi E et al.
Molecular Genetics & Genomic Medicine, 2024
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
37351323 (PubMed )
Supplement: Datasheet1.xls › Table_S1
Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature.
McConkey H et al.
Frontiers in Cell and Developmental Biology, 2022
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
33941880 (PubMed )
Supplement: NIHMS1700423-supplement-Supplementary_tables.xlsx › Table_S3
Genomic Sequencing of Cancer-related Genes in Sinonasal Squamous Cell Carcinoma and Coexisting Inverted Papilloma.
Uchi R et al.
Anticancer Research, 2021
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Skowron MA et al.
Scientific Reports, 2019
31597922 (PubMed )
Supplement: 41598_2019_50891_MOESM11_ESM.xlsx › Unique_in_J82-LTT
NSD1- and NSD2-damaging mutations define a subset of laryngeal tumors with favorable prognosis.
Peri S et al.
Nature Communications, 2017
29176703 (PubMed )
Supplement: 41467_2017_1877_MOESM14_ESM.xlsx › Peri_et_al._Suppl._Data_12
Select a paper to view details