Published in Genet Med on November 01, 2011
Next-generation genetic testing for retinitis pigmentosa. Hum Mutat (2012) 2.30
The promise of whole-exome sequencing in medical genetics. J Hum Genet (2013) 1.95
Neurology of inherited glycosylation disorders. Lancet Neurol (2012) 1.82
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet (2012) 1.79
Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing. Am J Clin Pathol (2014) 1.21
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet (2012) 1.09
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations. BMC Genet (2013) 1.06
A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective. BMC Med Genomics (2012) 1.05
Genomic mosaicism with increased amyloid precursor protein (APP) gene copy number in single neurons from sporadic Alzheimer's disease brains. Elife (2015) 0.93
Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG. Glycoconj J (2012) 0.90
Target enrichment using parallel nanoliter quantitative PCR amplification. BMC Genomics (2014) 0.83
Insights into complexity of congenital disorders of glycosylation. Biochem Med (Zagreb) (2012) 0.81
Development of a novel reference plasmid for accurate quantification of genetically modified Kefeng6 rice DNA in food and feed samples. Biomed Res Int (2013) 0.80
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. Mol Genet Metab (2013) 0.79
Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes. Sultan Qaboos Univ Med J (2015) 0.78
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing. Genet Med (2016) 0.75
Mung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichment. PLoS One (2014) 0.75
Sequencing technologies - the next generation. Nat Rev Genet (2009) 40.57
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol (2009) 27.17
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A (2009) 15.09
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
Biological roles of oligosaccharides: all of the theories are correct. Glycobiology (1993) 12.38
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med (2008) 9.13
On the frequency of protein glycosylation, as deduced from analysis of the SWISS-PROT database. Biochim Biophys Acta (1999) 7.38
Microdroplet-based PCR enrichment for large-scale targeted sequencing. Nat Biotechnol (2009) 4.80
Next-generation sequencing: from basic research to diagnostics. Clin Chem (2009) 4.18
Genetic defects in the human glycome. Nat Rev Genet (2006) 3.59
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat Med (2004) 3.06
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum Mol Genet (2010) 2.19
Congenital disorders of glycosylation: a rapidly expanding disease family. Annu Rev Genomics Hum Genet (2007) 2.12
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat (2009) 2.03
Update and perspectives on congenital disorders of glycosylation. Glycobiology (2001) 1.94
Congenital disorders of glycosylation. Ann N Y Acad Sci (2010) 1.93
Altered glycan structures: the molecular basis of congenital disorders of glycosylation. Curr Opin Struct Biol (2005) 1.64
Microarray-based multicycle-enrichment of genomic subsets for targeted next-generation sequencing. Genome Res (2009) 1.55
CDG nomenclature: time for a change! Biochim Biophys Acta (2009) 1.49
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Hum Mutat (2000) 1.48
Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab (2000) 1.44
On the nomenclature of congenital disorders of glycosylation (CDG). J Inherit Metab Dis (2008) 1.38
Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. Arch Dis Child (1990) 1.38
Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry. Clin Chem (2001) 1.38
Micro anion exchange chromatography of carbohydrate-deficient transferrin in serum in relation to alcohol consumption (Swedish Patent 8400587-5). Alcohol Clin Exp Res (1986) 1.37
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) J Clin Invest (2000) 1.36
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. J Clin Invest (2000) 1.33
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. J Clin Invest (2001) 1.33
Glycosylation diseases: quo vadis? Biochim Biophys Acta (2008) 1.30
Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase. Proc Natl Acad Sci U S A (1998) 1.24
Congenital disorders of glycosylation. Annu Rev Genomics Hum Genet (2001) 1.21
Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology. J Pediatr (2005) 1.18
Defective galactosylation of serum transferrin in galactosemia. Glycobiology (1998) 1.17
Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype. Arch Dis Child (2001) 1.16
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. Am J Med Genet A (2005) 1.16
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. Glycoconj J (1999) 1.14
Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase. EMBO J (1999) 1.13
Screening and diagnosis of congenital disorders of glycosylation. Clin Chim Acta (2007) 1.11
Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications. Genet Med (2009) 1.10
Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic. Hum Mutat (2003) 1.05
Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects. Pediatr Res (2006) 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
Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review. J Inherit Metab Dis (2009) 0.95
RFT1 deficiency in three novel CDG patients. Hum Mutat (2009) 0.90
Targeted sequencing with microfluidics. Nat Biotechnol (2009) 0.89
Carbohydrate deficient glycoprotein syndrome--like transferrin isoelectric focusing pattern in untreated fructosaemia. Eur J Pediatr (1996) 0.88
Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig. Mol Genet Metab (2004) 0.87
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation. Biochem Biophys Res Commun (2006) 0.85
Congenital disorders of glycosylation. Trends Biochem Sci (2000) 0.83
Screening for OST deficiencies in unsolved CDG-I patients. Biochem Biophys Res Commun (2009) 0.83
CDG-Id in two siblings with partially different phenotypes. Am J Med Genet A (2007) 0.82
Congenital disorders of glycosylation--a challenging group of IEMs. J Inherit Metab Dis (2008) 0.81
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med (2008) 9.13
ACMG clinical laboratory standards for next-generation sequencing. Genet Med (2013) 5.30
Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med (2012) 4.04
Proinflammatory S100 proteins regulate the accumulation of myeloid-derived suppressor cells. J Immunol (2008) 3.91
Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol (2012) 3.62
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat Med (2004) 3.06
Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49
RAGE, carboxylated glycans and S100A8/A9 play essential roles in colitis-associated carcinogenesis. Carcinogenesis (2008) 2.33
College of American Pathologists' laboratory standards for next-generation sequencing clinical tests. Arch Pathol Lab Med (2014) 1.84
Neurology of inherited glycosylation disorders. Lancet Neurol (2012) 1.82
Endogenous damage-associated molecular pattern molecules at the crossroads of inflammation and cancer. Neoplasia (2009) 1.66
Symbol nomenclature for glycan representation. Proteomics (2009) 1.56
Heparan sulfate and syndecan-1 are essential in maintaining murine and human intestinal epithelial barrier function. J Clin Invest (2008) 1.52
N -Glycans on the receptor for advanced glycation end products influence amphoterin binding and neurite outgrowth. J Neurochem (2002) 1.51
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. PLoS One (2013) 1.51
CDG nomenclature: time for a change! Biochim Biophys Acta (2009) 1.49
COG8 deficiency causes new congenital disorder of glycosylation type IIh. Hum Mol Genet (2007) 1.41
Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies. Muscle Nerve (2014) 1.41
Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea. Neurol India (2006) 1.39
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet (2012) 1.38
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. Hum Mutat (2003) 1.36
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain (2010) 1.34
The congenital disorders of glycosylation: a multifaceted group of syndromes. NeuroRx (2006) 1.33
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Hum Mutat (2013) 1.32
Glycosylation diseases: quo vadis? Biochim Biophys Acta (2008) 1.30
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet (2012) 1.29
Neurological aspects of human glycosylation disorders. Annu Rev Neurosci (2015) 1.27
Inhibition of N-linked glycosylation disrupts receptor tyrosine kinase signaling in tumor cells. Cancer Res (2008) 1.26
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Ann Neurol (2014) 1.25
TMEM165 deficiency causes a congenital disorder of glycosylation. Am J Hum Genet (2012) 1.20
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med Genet A (2007) 1.20
Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts. J Biol Chem (2011) 1.19
Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology. J Pediatr (2005) 1.18
Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality. J Biol Chem (2005) 1.16
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. Am J Med Genet A (2005) 1.16
Carboxylated glycans mediate colitis through activation of NF-kappa B. J Immunol (2005) 1.12
Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts. Glycobiology (2005) 1.12
Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx. J Pediatr (2005) 1.12
Molecular imaging of N-linked glycosylation suggests glycan biosynthesis is a novel target for cancer therapy. Clin Cancer Res (2010) 1.10
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet (2012) 1.09
A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy. FASEB J (2012) 1.09
Molecular and clinical characterization of a Moroccan Cog7 deficient patient. Mol Genet Metab (2007) 1.09
Glycobiology of neuromuscular disorders. Glycobiology (2003) 1.08
GLUT14, a duplicon of GLUT3, is specifically expressed in testis as alternative splice forms. Genomics (2002) 1.07
Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic. Hum Mutat (2003) 1.05
Carboxylated N-glycans on RAGE promote S100A12 binding and signaling. J Cell Biochem (2010) 1.05
Heparan sulfate plays a central role in a dynamic in vitro model of protein-losing enteropathy. J Biol Chem (2006) 1.03
Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development. Mol Cell Biol (2007) 1.03
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet (2013) 1.03
Distinct roles of E2F proteins in vascular smooth muscle cell proliferation and intimal hyperplasia. Proc Natl Acad Sci U S A (2007) 1.01
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. J Clin Endocrinol Metab (2005) 0.99
The relative contribution of mannose salvage pathways to glycosylation in PMI-deficient mouse embryonic fibroblast cells. FEBS J (2008) 0.99
Golgi glycosylation and human inherited diseases. Cold Spring Harb Perspect Biol (2011) 0.99
A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency. Mol Biol Cell (2012) 0.99
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. Hum Mol Genet (2013) 0.98
Identification of intercellular cell adhesion molecule 1 (ICAM-1) as a hypoglycosylation marker in congenital disorders of glycosylation cells. J Biol Chem (2012) 0.98
Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation. Pediatr Res (2006) 0.96
Identification of a synovial fibroblast-specific protein transduction domain for delivery of apoptotic agents to hyperplastic synovium. Mol Ther (2003) 0.94
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy. J Mol Diagn (2012) 0.94
Heparan sulfate depletion amplifies TNF-alpha-induced protein leakage in an in vitro model of protein-losing enteropathy. Am J Physiol Gastrointest Liver Physiol (2004) 0.93
Sod2 knockdown in the musculature has whole-organism consequences in Drosophila. Free Radic Biol Med (2009) 0.93
Diagnostic approaches to apparent homozygosity. Genet Med (2012) 0.93
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. J Pediatr (2002) 0.91
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. Hum Mol Genet (2002) 0.90
Reduced production of sulfated glycosaminoglycans occurs in Zambian children with kwashiorkor but not marasmus. Am J Clin Nutr (2008) 0.90
RFT1 deficiency in three novel CDG patients. Hum Mutat (2009) 0.90
A forward genetic screen in Drosophila implicates insulin signaling in age-related locomotor impairment. Exp Gerontol (2009) 0.90
Mouse model implicates GNB3 duplication in a childhood obesity syndrome. Proc Natl Acad Sci U S A (2013) 0.90
Spatial regulation of Golgi phosphatidylinositol-4-phosphate is required for enzyme localization and glycosylation fidelity. Traffic (2010) 0.90
The metabolic origins of mannose in glycoproteins. J Biol Chem (2014) 0.89
Potent, selective, and orally available benzoisothiazolone phosphomannose isomerase inhibitors as probes for congenital disorder of glycosylation Ia. J Med Chem (2011) 0.89
Mannose efflux from the cells: a potential source of mannose in blood. J Biol Chem (2011) 0.89
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). Mol Genet Metab (2011) 0.88
Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig. Mol Genet Metab (2004) 0.87
Essentials of glycosylation. Semin Pediatr Neurol (2005) 0.86
N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response. Glycobiology (2014) 0.86
A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation. Dis Model Mech (2012) 0.86
Identification of the first COG-CDG patient of Indian origin. Mol Genet Metab (2010) 0.86
Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene. Genome Res (2011) 0.86
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. Hum Mol Genet (2013) 0.85