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
Unsupervised learning reveals landscape of local structural motifs across protein classes.
Derry A et al.
Bioinformatics (oxford, England), 2025
40569048 (PubMed )
Supplement: btaf377_supplementary_data.zip › Supplementary_material_PDF.pdf
NOTCH1 loss of the TAD and PEST domain: An antimorph?
Boerkoel P et al.
American Journal of Medical Genetics. Part A, 2023
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_19
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
Novel In-Frame Deletion Mutation in NOTCH1 in a Chinese Sporadic Case of Adams-Oliver Syndrome.
Huang S et al.
Dna and Cell Biology, 2020
Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease.
Meester JAN et al.
Clinical Genetics, 2019
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Meester JAN et al.
Human Mutation, 2018
29924900 (PubMed )
Supplement: HUMU-39-1246-s001.pdf
Structural Insights into Notch Receptor-Ligand Interactions.
Handford PA et al.
Advances in Experimental Medicine and Biology, 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
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf
Mutations in NOTCH1 cause Adams-Oliver syndrome.
Stittrich AB et al.
American Journal of Human Genetics, 2014
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