Published in Hum Mol Genet on January 28, 2013
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science (2013) 1.91
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Science (2013) 1.57
Dysregulation of astrocyte extracellular signaling in Costello syndrome. Sci Transl Med (2015) 1.54
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet (2013) 1.50
Integrative data mining highlights candidate genes for monogenic myopathies. PLoS One (2014) 1.49
The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy. J Cell Biol (2013) 1.45
Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane. Glycobiology (2015) 1.06
The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation. Elife (2014) 0.98
Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies. FEBS J (2013) 0.97
B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan. Elife (2014) 0.97
Milder forms of muscular dystrophy associated with POMGNT2 mutations. Neurol Genet (2015) 0.89
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. Neurogenetics (2013) 0.88
AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan. Sci Rep (2013) 0.87
The potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophy. FEBS J (2013) 0.85
A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. Neurogenetics (2013) 0.85
Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression. Sci Rep (2015) 0.83
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Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations. J Neuropathol Exp Neurol (2014) 0.80
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. Am J Hum Genet (2016) 0.80
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. PLoS One (2013) 0.80
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. Front Neurosci (2015) 0.79
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. Neuromuscul Disord (2014) 0.78
Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues. J Biol Chem (2014) 0.78
The Dystrophin Complex: Structure, Function, and Implications for Therapy. Compr Physiol (2015) 0.77
Prenatal muscle development in a mouse model for the secondary dystroglycanopathies. Skelet Muscle (2016) 0.77
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Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation. J Hum Genet (2016) 0.76
Morphological and functional aspects of progenitors perturbed in cortical malformations. Front Cell Neurosci (2015) 0.76
Finding the sweet spot: assembly and glycosylation of the dystrophin-associated glycoprotein complex. Anat Rec (Hoboken) (2014) 0.75
Identification of novel MYO18A interaction partners required for myoblast adhesion and muscle integrity. Sci Rep (2016) 0.75
Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice. PLoS One (2016) 0.75
Postnatal Gene Therapy Improves Spatial Learning Despite the Presence of Neuronal Ectopia in a Model of Neuronal Migration Disorder. Genes (Basel) (2016) 0.75
Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. PLoS One (2017) 0.75
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LARGE2-dependent glycosylation confers laminin-binding ability on proteoglycans. Glycobiology (2016) 0.75
Clear differences in cerebrospinal fluid proteome between women with chronic widespread pain and healthy women - a multivariate explorative cross-sectional study. J Pain Res (2017) 0.75
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. BMC Neurol (2015) 0.75
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Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature (2002) 5.21
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Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell (2001) 3.29
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
A stoichiometric complex of neurexins and dystroglycan in brain. J Cell Biol (2001) 2.98
O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. Science (2010) 2.98
Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. Proc Natl Acad Sci U S A (2003) 2.94
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet (2005) 2.80
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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet (2003) 2.69
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet (2001) 2.66
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Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation. Nat Neurosci (2008) 2.35
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE. Science (2012) 2.22
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet (2012) 1.93
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet (2012) 1.90
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet (2009) 1.83
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A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med (2011) 1.67
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Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet (2012) 1.60
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Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet (2011) 1.36
Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase. Proc Natl Acad Sci U S A (2009) 1.32
Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis. Proc Natl Acad Sci U S A (1997) 1.29
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol (2012) 1.29
Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies. Hum Mol Genet (2011) 1.09
A novel procedure for protein extraction from formalin-fixed paraffin-embedded tissues. Proteomics (2011) 1.01
Large induces functional glycans in an O-mannosylation dependent manner and targets GlcNAc terminals on alpha-dystroglycan. PLoS One (2011) 0.91
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
The zebrafish reference genome sequence and its relationship to the human genome. Nature (2013) 8.52
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
Mind bomb is a ubiquitin ligase that is essential for efficient activation of Notch signaling by Delta. Dev Cell (2003) 4.30
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Basigin is a receptor essential for erythrocyte invasion by Plasmodium falciparum. Nature (2011) 3.83
Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother. Lancet (2006) 3.72
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
DNA detection using recombination proteins. PLoS Biol (2006) 3.53
A systematic genome-wide analysis of zebrafish protein-coding gene function. Nature (2013) 3.52
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47
The deubiquitinase USP9X suppresses pancreatic ductal adenocarcinoma. Nature (2012) 3.23
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
West Nile virus infection in 2002: morbidity and mortality among patients admitted to hospital in southcentral Ontario. CMAJ (2003) 3.03
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet (2012) 2.80
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Large-scale screening for novel low-affinity extracellular protein interactions. Genome Res (2008) 2.62
Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49
CD200 and membrane protein interactions in the control of myeloid cells. Trends Immunol (2002) 2.45
Readily accessible bicyclononynes for bioorthogonal labeling and three-dimensional imaging of living cells. Angew Chem Int Ed Engl (2010) 2.36
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet (2002) 2.33
Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies. Lancet Oncol (2013) 2.32
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31
Genome-wide analysis of simultaneous GATA1/2, RUNX1, FLI1, and SCL binding in megakaryocytes identifies hematopoietic regulators. Dev Cell (2011) 2.30
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet (2002) 2.30
Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain (2010) 2.19
Allogeneic bone marrow transplantation: cure for familial Mediterranean fever. Blood (2002) 2.15
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. PLoS Genet (2010) 2.14
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet (2012) 2.12
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12
The blood-stage malaria antigen PfRH5 is susceptible to vaccine-inducible cross-strain neutralizing antibody. Nat Commun (2011) 2.11
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain (2013) 2.09
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07
p63-associated disorders. Cell Cycle (2007) 2.05
PhenoTips: patient phenotyping software for clinical and research use. Hum Mutat (2013) 2.04
Zebrafish mutants identify an essential role for laminins in notochord formation. Development (2002) 2.03
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat (2008) 2.00
Development of lithium-induced nephrogenic diabetes insipidus is dissociated from adenylyl cyclase activity. J Am Soc Nephrol (2006) 1.99
Loss of RB1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma. Hum Mol Genet (2008) 1.98
Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol (2009) 1.98
An integrated functional genomics approach identifies the regulatory network directed by brachyury (T) in chordoma. J Pathol (2012) 1.95
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science (2013) 1.91
WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn (2010) 1.91
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet (2012) 1.90
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet (2012) 1.90
Incorporating RNA-seq data into the zebrafish Ensembl genebuild. Genome Res (2012) 1.89
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet (2009) 1.83
Safety of codeine during breastfeeding: fatal morphine poisoning in the breastfed neonate of a mother prescribed codeine. Can Fam Physician (2007) 1.83
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83
Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet (2003) 1.83
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. J Med Genet (2011) 1.81
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet (2008) 1.80
Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76
Jamb and jamc are essential for vertebrate myocyte fusion. PLoS Biol (2011) 1.76
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet (2011) 1.74
Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet (2009) 1.73
Neurological complications of kernicterus. Can J Neurol Sci (2005) 1.72
Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. Hum Mol Genet (2005) 1.71
Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet (2007) 1.71
Brain biopsy in children with primary small-vessel central nervous system vasculitis. Ann Neurol (2010) 1.70
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68
Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice. J Clin Invest (2010) 1.67
Treatment of small vessel primary CNS vasculitis in children: an open-label cohort study. Lancet Neurol (2010) 1.66
Removal of dystroglycan causes severe muscular dystrophy in zebrafish embryos. Development (2002) 1.66
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet (2012) 1.65
Setting the tempo in development: an investigation of the zebrafish somite clock mechanism. PLoS Biol (2007) 1.61
Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. Laryngoscope (2005) 1.61
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol (2003) 1.57
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet (2006) 1.56
Epigenetic regulation of learning and memory by Drosophila EHMT/G9a. PLoS Biol (2011) 1.55