Published in Genet Med on March 20, 2014
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Genet Med (2015) 1.84
The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated. Genet Med (2014) 1.33
Neurological aspects of human glycosylation disorders. Annu Rev Neurosci (2015) 1.27
Endo-β-N-acetylglucosaminidase forms N-GlcNAc protein aggregates during ER-associated degradation in Ngly1-defective cells. Proc Natl Acad Sci U S A (2015) 0.91
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. Eur J Med Genet (2014) 0.91
Data sharing in the undiagnosed diseases network. Hum Mutat (2015) 0.90
The cytoplasmic peptide:N-glycanase (NGLY1) - Structure, expression and cellular functions. Gene (2015) 0.89
Proteasome dysfunction triggers activation of SKN-1A/Nrf1 by the aspartic protease DDI-1. Elife (2016) 0.89
Cerebral visual impairment and intellectual disability caused by PGAP1 variants. Eur J Hum Genet (2015) 0.86
The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes. Genome Biol (2016) 0.85
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genet Med (2015) 0.83
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. Genet Med (2016) 0.83
It takes a genome to understand a village: Population scale precision medicine. Proc Natl Acad Sci U S A (2016) 0.81
Novel genetic causes for cerebral visual impairment. Eur J Hum Genet (2015) 0.81
Tissue-specific regulation of BMP signaling by Drosophila N-glycanase 1. Elife (2017) 0.80
Lethality of mice bearing a knockout of the Ngly1-gene is partially rescued by the additional deletion of the Engase gene. PLoS Genet (2017) 0.78
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. Glycobiology (2015) 0.76
Web-based Gene Pathogenicity Analysis (WGPA): a web platform to interpret gene pathogenicity from personal genome data. Bioinformatics (2015) 0.75
Novel small molecule binders of human N-glycanase 1, a key player in the endoplasmic reticulum associated degradation pathway. Bioorg Med Chem (2016) 0.75
Human genome-wide RNAi screen reveals host factors required for enterovirus 71 replication. Nat Commun (2016) 0.75
Enzymatic insights into an inherited genetic disorder. Elife (2017) 0.75
Mitochondrial respiratory-chain diseases. N Engl J Med (2003) 8.68
Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet (2013) 5.58
Protein dislocation from the ER requires polyubiquitination and the AAA-ATPase Cdc48. Nat Cell Biol (2002) 4.06
Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet (2012) 3.33
Demonstration of peptide:N-glycosidase F activity in endo-beta-N-acetylglucosaminidase F preparations. J Biol Chem (1984) 3.26
PNG1, a yeast gene encoding a highly conserved peptide:N-glycanase. J Cell Biol (2000) 1.98
Neurology of inherited glycosylation disorders. Lancet Neurol (2012) 1.82
Understanding human glycosylation disorders: biochemistry leads the charge. J Biol Chem (2013) 1.72
Altered glycan structures: the molecular basis of congenital disorders of glycosylation. Curr Opin Struct Biol (2005) 1.64
Purification and enzymatic properties of peptide:N-glycanase from C3H mouse-derived L-929 fibroblast cells. Possible widespread occurrence of post-translational remodification of proteins by N-deglycosylation. J Biol Chem (1994) 1.47
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet (2011) 1.35
Identification of proteins that interact with mammalian peptide:N-glycanase and implicate this hydrolase in the proteasome-dependent pathway for protein degradation. Proc Natl Acad Sci U S A (2001) 1.34
Cytoplasmic peptide:N-glycanase (PNGase) in eukaryotic cells: occurrence, primary structure, and potential functions. FASEB J (2002) 1.33
A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. Hum Mol Genet (2011) 1.31
An endoplasmic reticulum (ER) membrane complex composed of SPFH1 and SPFH2 mediates the ER-associated degradation of inositol 1,4,5-trisphosphate receptors. J Biol Chem (2009) 1.26
Identification of peptide:N-glycanase activity in mammalian-derived cultured cells. Biochem Biophys Res Commun (1993) 1.21
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat (2005) 1.18
Demonstration of a new amidase acting on glycopeptides. Biochem Biophys Res Commun (1977) 1.17
A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18). Neurogenetics (2011) 1.15
Golgi localization of ERManI defines spatial separation of the mammalian glycoprotein quality control system. Mol Biol Cell (2011) 1.08
RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase, mediates inositol 1,4,5-trisphosphate receptor ubiquitination and degradation. J Biol Chem (2011) 1.02
Molecular and structural basis for N-glycan-dependent determination of glycoprotein fates in cells. Biochim Biophys Acta (2012) 0.99
The N-glycanase png-1 acts to limit axon branching during organ formation in Caenorhabditis elegans. J Neurosci (2010) 0.98
Structural views of glycoprotein-fate determination in cells. Glycobiology (2007) 0.97
A plant peptide: N-glycanase orthologue facilitates glycoprotein ER-associated degradation in yeast. Biochim Biophys Acta (2012) 0.97
A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. Brain (2010) 0.90
A cytoplasmic peptide: N-glycanase. Methods Enzymol (2006) 0.89
Golgi-situated endoplasmic reticulum α-1, 2-mannosidase contributes to the retrieval of ERAD substrates through a direct interaction with γ-COP. Mol Biol Cell (2013) 0.89
Neuropathology and pathogenesis of mitochondrial diseases. J Inherit Metab Dis (1996) 0.89
Identification and characterization of peptide: N-glycanase from Dictyostelium discoideum. BMC Biochem (2012) 0.88
Clinical features and neuroradiological findings of mitochondrial pathology in six neonates. Childs Nerv Syst (2002) 0.88
A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1. J Med Genet (2004) 0.86
Molecular identification and characterization of peptide: N-glycanase from Schizosaccharomyces pombe. Biochem Biophys Res Commun (2008) 0.85
NMR characterization of the interaction between the PUB domain of peptide:N-glycanase and ubiquitin-like domain of HR23. FEBS Lett (2012) 0.84
A founder haplotype for autosomal dominant sensory ataxia in Eastern Canada. Neurology (2006) 0.82
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. Am J Hum Genet (2014) 1.86
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. Cancer Discov (2014) 1.80
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet (2012) 1.63
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet (2012) 1.49
Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet (2011) 1.46
Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect. Can J Cardiol (2013) 1.46
Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet (2013) 1.43
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin Genet (2015) 1.32
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet (2012) 1.32
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet (2012) 1.32
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. Hum Mutat (2011) 1.25
Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat (2014) 1.25
Mutations in TMEM231 cause Joubert syndrome in French Canadians. J Med Genet (2012) 1.23
Genomic analysis of mycosis fungoides and Sézary syndrome identifies recurrent alterations in TNFR2. Nat Genet (2015) 1.21
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet (2014) 1.17
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. Clin Genet (2014) 1.13
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Orphanet J Rare Dis (2014) 1.12
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. Am J Hum Genet (2012) 1.08
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. Orphanet J Rare Dis (2012) 1.05
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype. BMC Med Genet (2012) 0.94
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. Clin Genet (2013) 0.94
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis (2013) 0.93
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet (2013) 0.93
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. Nat Genet (2014) 0.93
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing. Am J Med Genet A (2015) 0.90
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease. J Child Neurol (2014) 0.89
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders. Eur J Hum Genet (2014) 0.88
Neuropathologic features of pontocerebellar hypoplasia type 6. J Neuropathol Exp Neurol (2014) 0.87
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet (2014) 0.85
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria. Orphanet J Rare Dis (2013) 0.85
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. Hum Mutat (2016) 0.85
Intellectual disability associated with a homozygous missense mutation in THOC6. Orphanet J Rare Dis (2013) 0.85
Clinical course of sly syndrome (mucopolysaccharidosis type VII). J Med Genet (2016) 0.84
Bioinactive ACTH causing glucocorticoid deficiency. J Clin Endocrinol Metab (2013) 0.84
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Hum Mutat (2012) 0.83
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review. Am J Med Genet A (2013) 0.83
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. G3 (Bethesda) (2015) 0.83
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation. Epilepsia (2014) 0.82
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series. CMAJ (2015) 0.82
Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. Muscle Nerve (2014) 0.82
Endoglycosidase and glycoamidase release of N-linked glycans. Curr Protoc Protein Sci (2010) 0.82
Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care. Mol Genet Genomic Med (2016) 0.81
Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals. Eur J Hum Genet (2015) 0.81
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. J Med Genet (2014) 0.80
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology. Neurobiol Aging (2014) 0.80
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene. Eur J Hum Genet (2014) 0.79
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. Clin Genet (2015) 0.79
Whole-exome sequencing expands the phenotype of Hunter syndrome. Clin Genet (2013) 0.78
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. BMC Med Genet (2015) 0.78
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome. BMC Neurol (2014) 0.77
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. J Med Genet (2014) 0.77
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. J Med Genet (2015) 0.76
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. J Med Genet (2017) 0.76
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. Epilepsia (2014) 0.75
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency. JIMD Rep (2016) 0.75
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy. Am J Med Genet A (2017) 0.75
Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet. Am J Med Genet A (2017) 0.75
Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression. Invest Ophthalmol Vis Sci (2017) 0.75
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. Am J Med Genet A (2016) 0.75
Endoglycosidase and glycoamidase release of N-linked glycans. Curr Protoc Immunol (2010) 0.75
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: outcomes from a cohort of 50 families. Clin Genet (2017) 0.75
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. Clin Genet (2017) 0.75
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy. Hum Mol Genet (2017) 0.75