Published in Am J Hum Genet on May 01, 2008
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med (2009) 3.88
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet (2008) 2.18
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet (2013) 2.10
Neurology of inherited glycosylation disorders. Lancet Neurol (2012) 1.82
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet (2011) 1.70
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet (2011) 1.70
Congenital disorders of glycosylation (CDG): it's (nearly) all in it! J Inherit Metab Dis (2011) 1.59
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Am J Hum Genet (2009) 1.55
The genetic basis of non-syndromic intellectual disability: a review. J Neurodev Disord (2010) 1.45
Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. Am J Hum Genet (2009) 1.38
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet (2010) 1.31
Glycosylation diseases: quo vadis? Biochim Biophys Acta (2008) 1.30
Oligosaccharyltransferase: the central enzyme of N-linked protein glycosylation. J Inherit Metab Dis (2011) 1.27
Neurological aspects of human glycosylation disorders. Annu Rev Neurosci (2015) 1.27
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
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. Am J Hum Genet (2008) 1.21
Oxidoreductase activity of oligosaccharyltransferase subunits Ost3p and Ost6p defines site-specific glycosylation efficiency. Proc Natl Acad Sci U S A (2009) 1.15
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet (2012) 1.09
TUSC3 loss alters the ER stress response and accelerates prostate cancer growth in vivo. Sci Rep (2014) 1.05
ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet (2011) 1.01
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. Hum Mol Genet (2013) 0.98
Tissue specificity in the nuclear envelope supports its functional complexity. Nucleus (2013) 0.96
Lessons learnt from large-scale exon re-sequencing of the X chromosome. Hum Mol Genet (2009) 0.92
Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG. Glycoconj J (2012) 0.90
Glycoprotein folding and quality-control mechanisms in protein-folding diseases. Dis Model Mech (2014) 0.89
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system. Am J Hum Genet (2010) 0.89
Human intellectual disability genes form conserved functional modules in Drosophila. PLoS Genet (2013) 0.89
Cotranslational and posttranslocational N-glycosylation of proteins in the endoplasmic reticulum. Semin Cell Dev Biol (2014) 0.87
A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability. BMC Med Genet (2011) 0.86
Oxidoreductase activity is necessary for N-glycosylation of cysteine-proximal acceptor sites in glycoproteins. J Cell Biol (2014) 0.85
Specialized roles of the conserved subunit OST3/6 of the oligosaccharyltransferase complex in innate immunity and tolerance to abiotic stresses. Plant Physiol (2013) 0.84
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype. Eur J Hum Genet (2012) 0.83
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. Eur J Hum Genet (2012) 0.80
N-linked glycosylation and homeostasis of the endoplasmic reticulum. Curr Opin Cell Biol (2016) 0.79
Mammalian cells lacking either the cotranslational or posttranslocational oligosaccharyltransferase complex display substrate-dependent defects in asparagine linked glycosylation. Sci Rep (2016) 0.79
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. Neurogenetics (2011) 0.79
Reduced expression of the oligosaccharyltransferase exacerbates protein hypoglycosylation in cells lacking the fully assembled oligosaccharide donor. Glycobiology (2015) 0.78
Polypeptide binding specificities of Saccharomyces cerevisiae oligosaccharyltransferase accessory proteins Ost3p and Ost6p. Protein Sci (2011) 0.77
N-glycoprotein macroheterogeneity: biological implications and proteomic characterization. Glycoconj J (2015) 0.77
Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Hum Mutat (2015) 0.77
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect. Curr Opin Pediatr (2014) 0.76
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers. JIMD Rep (2015) 0.76
Congenital protein hypoglycosylation diseases. Appl Clin Genet (2012) 0.75
Molecular investigation of mental retardation locus gene PRSS12 by linkage analysis. Indian J Hum Genet (2011) 0.75
De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay. Mol Cytogenet (2014) 0.75
TUSC3: a novel tumour suppressor gene and its functional implications. J Cell Mol Med (2017) 0.75
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Mol Psychiatry (2016) 0.75
A synaptic model of memory: long-term potentiation in the hippocampus. Nature (1993) 29.13
Genetic defects in the human glycome. Nat Rev Genet (2006) 3.59
An evolving view of the eukaryotic oligosaccharyltransferase. Glycobiology (2005) 3.26
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet (2008) 2.18
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet (2007) 2.13
PSA-NCAM in mammalian structural plasticity and neurogenesis. Prog Neurobiol (2006) 2.04
A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. Neurology (2004) 1.90
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Am J Hum Genet (2006) 1.85
PSA-NCAM is required for activity-induced synaptic plasticity. Neuron (1996) 1.81
Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science (2002) 1.80
Analysis of protein glycosylation by mass spectrometry. Nat Protoc (2007) 1.65
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. J Med Genet (2005) 1.65
Polysialic acid-neural cell adhesion molecule in brain plasticity: from synapses to integration of new neurons. Brain Res Rev (2007) 1.57
Evidence that long-term potentiation occurs within individual hippocampal synapses during learning. J Neurosci (2007) 1.50
The oligosaccharyltransferase complex from Saccharomyces cerevisiae. Isolation of the OST6 gene, its synthetic interaction with OST3, and analysis of the native complex. J Biol Chem (1999) 1.46
The congenital disorders of glycosylation: a multifaceted group of syndromes. NeuroRx (2006) 1.33
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. Hum Mutat (2001) 1.30
Polysialylated neural cell adhesion molecule is involved in induction of long-term potentiation and memory acquisition and consolidation in a fear-conditioning paradigm. J Neurosci (2006) 1.23
Cell biology of polysialic acid. Curr Opin Neurobiol (1997) 1.19
Polysialic acid and the regulation of cell interactions. Curr Opin Cell Biol (1996) 1.11
Yeast oligosaccharyltransferase consists of two functionally distinct sub-complexes, specified by either the Ost3p or Ost6p subunit. FEBS Lett (2005) 1.05
Upregulation of polysialylated neural cell adhesion molecule in the dorsal hippocampus after contextual fear conditioning is involved in long-term memory formation. J Neurosci (2007) 1.04
The 3.4-kDa Ost4 protein is required for the assembly of two distinct oligosaccharyltransferase complexes in yeast. Glycobiology (2005) 1.03
Two oligosaccharyl transferase complexes exist in yeast and associate with two different translocons. Glycobiology (2005) 1.02
A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis. Proteomics (2007) 1.00
Glycosylation of proteins during a critical time window is necessary for the maintenance of long-term potentiation in the hippocampal CA1 region. Neuroscience (1999) 0.92
Mutations of the BRAF gene in human cancer. Nature (2002) 65.42
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet (2008) 43.63
Patterns of somatic mutation in human cancer genomes. Nature (2007) 38.41
A census of human cancer genes. Nat Rev Cancer (2004) 36.20
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res (2010) 25.55
A comprehensive catalogue of somatic mutations from a human cancer genome. Nature (2009) 24.27
The cancer genome. Nature (2009) 23.13
Signatures of mutational processes in human cancer. Nature (2013) 21.63
International network of cancer genome projects. Nature (2010) 20.35
A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature (2009) 18.39
Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell (2011) 16.72
Systematic identification of genomic markers of drug sensitivity in cancer cells. Nature (2012) 15.91
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature (2010) 14.50
Complex landscapes of somatic rearrangement in human breast cancer genomes. Nature (2009) 13.45
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature (2011) 13.30
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature (2011) 13.18
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62
The patterns and dynamics of genomic instability in metastatic pancreatic cancer. Nature (2010) 12.43
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
The landscape of cancer genes and mutational processes in breast cancer. Nature (2012) 11.24
Mutational processes molding the genomes of 21 breast cancers. Cell (2012) 11.22
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
The life history of 21 breast cancers. Cell (2012) 10.59
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. Nat Genet (2009) 10.21
Signatures of mutation and selection in the cancer genome. Nature (2010) 9.75
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet (2002) 9.71
COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer. Nucleic Acids Res (2009) 9.59
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet (2006) 9.17
BRAF and RAS mutations in human lung cancer and melanoma. Cancer Res (2002) 8.55
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
Lung cancer: intragenic ERBB2 kinase mutations in tumours. Nature (2004) 8.35
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med (2007) 8.18
Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet (2006) 7.72