Associated Papers
Cysteine-Altering NOTCH3 Variants Are Associated with an Increased Risk of Autoimmune Diseases.
Rieder E et al.
Journal of Clinical Medicine, 2023
37834922 (PubMed )
Supplement: jcm-12-06278-s001.zip › jcm-2609480-supplementary.pdf
The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.
Cheng S et al.
Cell Discovery, 2023
Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
Hack RJ et al.
Brain : a Journal of Neurology, 2023
36535904 (PubMed )
Supplement: awac486_supplementary_data.pdf
Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho BPH et al.
Jama Neurology, 2022
36300346 (PubMed )
Supplement: jamaneurol-e223832-s001.pdf
Elderly CADASIL patients with intact neurological status.
Zhang R et al.
Journal of Stroke, 2022
Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.
Aoyagi Y et al.
Plos One, 2022
35358259 (PubMed )
Supplement: pone.0266112.s001.xlsx › Patients
NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.
Cho BPH et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
33712516 (PubMed )
Supplement: jnnp-2020-325838supp001.pdf
Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance.
Rutten JW et al.
Neurology, 2020
Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.
Richter-Pechańska P et al.
Blood Cancer Journal, 2017
28157215 (PubMed )
Supplement: bcj20173x11.xlsx › SNVsInDelsCalled_in214Pts
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.
Rutten JW et al.
Annals of Clinical and Translational Neurology, 2016
NOTCH, ASCL1, p53 and RB alterations define an alternative pathway driving neuroendocrine and small cell lung carcinomas.
Meder L et al.
International Journal of Cancer, 2016
26340530 (PubMed )
Supplement: IJC-138-927-s005.xlsx › Tabelle1
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