Associated Papers
DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.
Dombrowsky G et al.
Genome Medicine, 2026
41501857 (PubMed )
Supplement: 13073_2025_1587_MOESM1_ESM.xlsx › Table_S3
Somatic mutation and selection at population scale.
Lawson ARJ et al.
Nature, 2025
41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › sitednds_oral
Organismal metabolism regulates the expansion of oncogenic PIK3CA mutant clones in normal esophagus.
Herms A et al.
Nature Genetics, 2024
39169259 (PubMed )
Supplement: 41588_2024_1891_MOESM6_ESM.xlsx › Fig_1a
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
Yaoita H et al.
Journal of Human Genetics, 2024
Notch1 mutations drive clonal expansion in normal esophageal epithelium but impair tumor growth.
Abby E et al.
Nature Genetics, 2023
36658434 (PubMed )
Supplement: 41588_2022_1280_MOESM4_ESM.xlsx › Sup_Table_2
Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.
Debiec RM et al.
Heart (british Cardiac Society), 2022
35288444 (PubMed )
Supplement: heartjnl-2021-320428supp001.pdf
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots
Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease.
Meester JAN et al.
Clinical Genetics, 2019
The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.
Inman GJ et al.
Nature Communications, 2018
30202019 (PubMed )
Supplement: 41467_2018_6027_MOESM13_ESM.xlsx › Supplementary_Data_11
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Meester JAN et al.
Human Mutation, 2018
The developmental biology of genetic Notch disorders.
Mašek J et al.
Development (cambridge, England), 2017
28512196 (PubMed )
Supplement: supplement_1.pdf
EOGT and O-GlcNAc on secreted and membrane proteins.
Varshney S et al.
Biochemical Society Transactions, 2017
Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma.
Cammareri P et al.
Nature Communications, 2016
27558455 (PubMed )
Supplement: ncomms12493-s8.xlsx › Sheet1
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
Southgate L et al.
Circulation. Cardiovascular Genetics, 2015
Genomic and molecular characterization of esophageal squamous cell carcinoma.
Lin DC et al.
Nature Genetics, 2014
24686850 (PubMed )
Supplement: NIHMS573166-supplement-9.xlsx › Supplementary_Table_6
Select a paper to view details