Associated Papers
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
Review: Protein misfolding diseases - the rare case of Marinesco-Sjögren syndrome.
Chiesa R et al.
Neuropathology and Applied Neurobiology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
Anazi S et al.
Molecular Psychiatry, 2017
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Patel N et al.
Human Genetics, 2017
Characterizing the morbid genome of ciliopathies.
Shaheen R et al.
Genome Biology, 2016
Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.
Ezgu F et al.
Clinical Genetics, 2014
SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex.
Inaguma Y et al.
Embo Molecular Medicine, 2014
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Krieger M et al.
Brain : a Journal of Neurology, 2013
Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.
Horvers M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013
Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.
Takahata T et al.
Journal of Human Genetics, 2010
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.
Anttonen AK et al.
European Journal of Human Genetics : Ejhg, 2008