Associated Papers
Hereditary Haemorrhagic Cerebrovascular Disease: Implications for Clinical Management.
Hou W et al.
Annals of Neurosciences, 2026
Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients.
Dev P et al.
Plos One, 2026
The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.
Guyler SK et al.
Genes, 2025
Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.
de Rojas I et al.
Alzheimer's Research & Therapy, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Genomic landscape of hormone therapy-resistant HR-positive, HER2-negative breast cancer.
Chaubal R et al.
Breast Cancer Research and Treatment, 2025
Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort - Implications for NOTCH3 Variant-Specific Disease Prediction.
Cerfontaine MN et al.
Annals of Neurology, 2025
Intracranial Large Artery Involvement in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Tale of Two Genes?
Zedde M et al.
Genes, 2025
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Intracerebral hemorrhage in CADASIL.
Hsu SL et al.
Journal of the Chinese Medical Association : Jcma, 2025
Prevalence of Pathogenic Variants and Eligibility Criteria for Genetic Testing in Patients Who Visit a Memory Clinic.
Van Der Lee SJ et al.
Neurology, 2025
Prevalence of Genetic Variants Causing Mendelian Stroke Among 15,548 Koreans Without Neurological Disorders.
Yang JO et al.
Journal of Stroke, 2025
CADASIL or NOTCH3 mutaion spectrum diseases? Interpretation of NOTCH3 mutations and clinical heterogeneity in CADASIL.
Wang Y et al.
Frontiers in Neurology, 2025
NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke.
Rodriguez-Flores JL et al.
Nature Communications, 2024
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Iruzubieta P et al.
Ebiomedicine, 2024
Rare Sequence Variation Underlying Suspected Familial Cerebral Small-Vessel Disease.
Cho BPH et al.
Journal of the American Heart Association, 2024
Chorea Associated with Notch3 Gene Mutation.
Salari M et al.
Movement Disorders Clinical Practice, 2024
SNP and Structural Study of the Notch Superfamily Provides Insights and Novel Pharmacological Targets against the CADASIL Syndrome and Neurodegenerative Diseases.
Papageorgiou L et al.
Genes, 2024
GiOPARK Project: The Genetic Study of Parkinson's Disease in the Croatian Population.
Rački V et al.
Genes, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Contribution of the APOE Genotype to Cognitive Impairment in Individuals With NOTCH3 Cysteine-Altering Variants.
Cheng YW et al.
Journal of the American Heart Association, 2023
The cysteine-altering p.R544C variant in the NOTCH3 gene is a probable candidate for blood pressure and relevant traits in the Taiwan Biobank.
Lin E et al.
Journal of Neurology, 2023
Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature.
Al-Amrani F et al.
Pediatric Neurology, 2023
Headache and NOTCH3 Gene Variants in Patients with CADASIL.
Szymanowicz O et al.
Neurology International, 2023
Cysteine-Altering NOTCH3 Variants Are Associated with an Increased Risk of Autoimmune Diseases.
Rieder E et al.
Journal of Clinical Medicine, 2023
Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing.
Chang LH et al.
Cellular and Molecular Neurobiology, 2023
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
Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.
Juhosová M et al.
Neurogenetics, 2023
Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho BPH et al.
Jama Neurology, 2022
Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.
Ni W et al.
Cns Neuroscience & Therapeutics, 2022
Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.
Hack RJ et al.
Stroke, 2022