Jaya George-Abraham

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848

The American Journal of Human Genetics · 2018 · 170 citations

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from…

Genetics in Medicine · 2020 · 49 citations