Associated Papers
NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease.
Korvatska O et al.
Journal of the Neurological Sciences, 2023
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.
Khani M et al.
Molecular Neurodegeneration, 2022
How understudied populations have contributed to our understanding of Alzheimer's disease genetics.
Dehghani N et al.
Brain : a Journal of Neurology, 2021
Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants.
Hoogmartens J et al.
Alzheimer's & Dementia (amsterdam, Netherlands), 2021
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG
Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.
Patel D et al.
Jama Network Open, 2019
Genomic alterations accompanying tumour evolution in colorectal cancer: tracking the differences between primary tumours and synchronous liver metastases by whole-exome sequencing.
Mogensen MB et al.
Bmc Cancer, 2018
30029640 (PubMed )
Supplement: 12885_2018_4639_MOESM1_ESM.xlsx › Ark1
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.
Sassi C et al.
Neurobiology of Aging, 2018
29544907 (PubMed )
Supplement: mmc3.xlsx › ST10
Frequency and distribution of Notch mutations in tumor cell lines.
Mutvei AP et al.
Bmc Cancer, 2015
25907971 (PubMed )
Supplement: 12885_2015_1278_MOESM2_ESM.xlsx › suppdatagrejen
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Xie M et al.
Nature Medicine, 2014
25326804 (PubMed )
Supplement: NIHMS630249-supplement-9.xlsx › GP-77_samples-data.final.list.v
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