Selected publications
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Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.
Human Mutation.
2012
Academic Article
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Times cited: 24 -
A novel X-linked disorder with developmental delay and autistic features.
Annals of Neurology.
2012
Academic Article
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Times cited: 23 -
Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia.
European Journal of Medical Genetics.
2008
Academic Article
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Times cited: 10 -
Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.
Genetics in Medicine.
2008
Academic Article
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Times cited: 20