Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study

NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients

(2021) Yacen Hu et al.   Frontiers in Genetics

Genotype–phenotype correlations and effect of mutation location in Japanese CADASIL patients

(2020) Mao Mukai et al.   JOURNAL OF HUMAN GENETICS

Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel

(2018) M. Kunii et al.   CLINICAL GENETICS

The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant

(2018) Julie W. Rutten et al.   GENETICS IN MEDICINE

Prevalence and clinical characteristics of stroke patients with p.R544C NOTCH3 mutation in Taiwan

(2018) Sung-Chun Tang et al.   Annals of Clinical and Translational Neurology

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL

(2017) Elena Muiño et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Mendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases

(2017) Michael Chong et al.   STROKE

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ArchetypalNOTCH3mutations frequent in public exome: implications for CADASIL

(2016) Julie W. Rutten et al.   Annals of Clinical and Translational Neurology

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations

(2015) Xiao Liu et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles

(2015) Yi-Chu Liao et al.   PLoS One

Interpretation ofNOTCH3mutations in the diagnosis of CADASIL

(2014) Julie W Rutten et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Headache among CADASIL patients with R544C mutation: Prevalence, characteristics, and associations

(2013) Jay Chol Choi et al.   CEPHALALGIA

Parkinsonism is a Late, Not Rare, Feature of CADASIL

(2013) Michele Ragno et al.   STROKE

Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

(2012) S. Testi et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL

(2010) Z. Wang et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype

(2010) Poneh Adib-Samii et al.   STROKE

Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese

(2009) Y.-C. Lee et al.   JOURNAL OF NEUROLOGY

CADASIL

(2009) Hugues Chabriat et al.   LANCET NEUROLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols