Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases.

Georgia XiromerisiouChrysoula MarogianniKaterina DadouliChristina ZompolaDespoina GeorgouliAntonios ProvatasAikaterini TheodorouPaschalis ZervasChristina NikolaidouStergios StergiouPanagiotis NtellasMaria SokratousPantelis StathisGeorgios P ParaskevasAnastasios BonakisKonstantinos VoumvourakisChristos HadjichristodoulouGeorgios M HadjigeorgiouGeorgios Tsivgoulis

Published in: Neurology. Genetics (2020)

The collection and analysis of these scarce data published since the identification of NOTCH3 qualitatively by means of a systematic review and quantitatively regarding genetic profile and pathogenicity scores, highlight the significance of the ongoing trend of investigating phenotypic genotypic correlations.

Keyphrases

electronic health record
subarachnoid hemorrhage
meta analyses
genome wide
big data
white matter
copy number
biofilm formation
bioinformatics analysis
machine learning
multiple sclerosis
systematic review
cystic fibrosis
cerebral blood flow
artificial intelligence
blood brain barrier
deep learning