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 › clinvar_annotation
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
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
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
Genomic Profiling of Large-Cell Neuroendocrine Carcinoma of the Lung.
Miyoshi T et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
27507618 (PubMed )
Supplement: 10780432ccr160355-sup-162074_1_supp_3593422_88n10b.xlsx › Supplementary_Table_7_
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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