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Author Details

Bobby G Ng
2000
84
33
PMIDPaper TitleJournal TitlePublished Year
37540500Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.J Inherit Metab Dis2023
36357165Homozygous truncating variant in <i>MAN2A2</i> causes a novel congenital disorder of glycosylation with neurological involvement.J Med Genet2023
36214423DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.J Inherit Metab Dis2023
36423686GLUT1 is a highly efficient L-fucose transporter.Journal of Biological Chemistry2023
37711075Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.J Inherit Metab Dis2023
36719165Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.J Inherit Metab Dis2023
36651831Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.J Inherit Metab Dis2023
36636598The Swedish COG6-CDG experience and a comprehensive literature review.2023
35242569Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature.Molecular Genetics and Metabolism Reports2022
35932216A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.Clin Genet2022
35790351Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.J Med Genet2022
36053214Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions.Journal of Cell Biology2022
36393834COG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells.Front Cell Dev Biol2022
35716054ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.J Inherit Metab Dis2022
34788024Chemical Therapies for Congenital Disorders of Glycosylation.ACS Chemical Biology2022
35262690CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.Hum Mol Genet2022
34595172A Dominant Heterozygous Mutation in Causes Saul-Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling.Frontiers in Cell and Developmental Biology2021
33964207A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.Am J Hum Genet2021
33583022Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.J Inherit Metab Dis2021
33734437ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.J Inherit Metab Dis2021
34245688SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy.Clin Chim Acta2021
34653363Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.Am J Hum Genet2021
31398011Therapeutic Monosaccharides: Looking Back, Moving Forward.Biochemistry2020
31949312Defining the clinical phenotype of Saul-Wilson syndrome.Genet Med2020
32395830Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.J Inherit Metab Dis2020
32049367Expanding the molecular and clinical phenotypes of FUT8-CDG.Journal of Inherited Metabolic Disease2020
32461667Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.Genet Med2020
33204592MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature.JIMD Reports2020
30770273Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.Pediatr Neurol2019
31875565N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.Cell Reports2019
30117111DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.JIMD Rep2019
30701557Factor VIII and vWF deficiency in STT3A-CDG.Journal of Inherited Metabolic Disease2019
30817854SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.Hum Mutat2019
30746764Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.J Inherit Metab Dis2019
30676690ALG11-CDG syndrome: Expanding the phenotype.American Journal of Medical Genetics, Part A2019
30945312Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.J Inherit Metab Dis2019
29321044Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation.Orphanet Journal of Rare Diseases2018
30503518Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.American Journal of Human Genetics2018
30290151A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.Am J Hum Genet2018
29304374Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.Am J Hum Genet2018
29606283Perspectives on Glycosylation and Its Congenital Disorders.Trends in Genetics2018
28216230Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.Mitochondrion2017
28856833Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.Am J Med Genet A2017
28218252Dissecting the molecular organization of the translocon-associated protein complex.Nat Commun2017
26335155Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.J Inherit Metab Dis2016
26931382ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.Hum Mutat2016
26805780Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.Am J Hum Genet2016
27325525Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.Pediatrics International2016
27480077SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.Am J Med Genet A2016
26430078A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.Clin Chem2016
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National Institutes of Health Undiagnosed Diseases Program
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Berlin Institute of Health (BIH) at Charite-Universitatsmedizin Berlin
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Center for Human Genetics, KU Leuven and University Hospitals Leuven
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National Human Genome Research Institute, National Institutes of Health
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