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Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank CADASIL to nonpenetrance
In vitro 3D phenotypic drug screen identifies celastrol as an effective in vivo inhibitor of polycystic kidney disease
Reducing YAP expression in Pkd1 mutant mice does not improve the cystic phenotype
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients
In vitro 3D phenotypic drug screen identifies celastrol as an effective in vivo inhibitor of polycystic kidney disease
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Expanding the therapeutic possibilities of NOTCH3 Cysteine Quantity Correction in CADASIL
Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans
Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
A unifying genetic model for facioscapulohumeral muscular dystrophy
