Published in Mol Syndromol on March 04, 2015
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
Guidelines for investigating causality of sequence variants in human disease. Nature (2014) 7.30
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
Genome sequencing identifies major causes of severe intellectual disability. Nature (2014) 3.68
The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev (2002) 3.26
Genetics of early onset cognitive impairment. Annu Rev Genomics Hum Genet (2010) 2.86
Mechanism of class 1 (glycosylhydrolase family 47) {alpha}-mannosidases involved in N-glycan processing and endoplasmic reticulum quality control. J Biol Chem (2005) 1.38
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet (2011) 1.35
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet (2013) 1.34
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell (2014) 1.33
Genetics of recessive cognitive disorders. Trends Genet (2013) 1.24
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. Eur J Hum Genet (2011) 1.21
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. PLoS Genet (2014) 1.05
MAN1B1 deficiency: an unexpected CDG-II. PLoS Genet (2013) 1.03
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain (2014) 0.95