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
Multiscale simulations reveal architecture of NOTCH protein and ligand specific features.
Rathore S et al.
Biophysical Journal, 2025
Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.
Candelaria M et al.
International Journal of Molecular Sciences, 2024
39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf
NOTCH1 and PIK3CA mutation are related to HPV-associated vulvar squamous cell carcinoma.
Choschzick M et al.
Pathology, Research and Practice, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Ultradeep sequencing differentiates patterns of skin clonal mutations associated with sun-exposure status and skin cancer burden.
Wei L et al.
Science Advances, 2021
33523857 (PubMed )
Supplement: abd7703_SM.pdf
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
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
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
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
Southgate L et al.
Circulation. Cardiovascular Genetics, 2015
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