B. Ng

发表

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.

B. Xia, R. Cummings, M. Hegde, 2016, Clinical chemistry.

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation Including Asparagine-Linked Glycosylation Protein 1 , Phosphomannomutase 2 , and Phosphomannose Isomerase Deficiencies

B. Xia, R. Cummings, M. Hegde, 2015 .

Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice

H. Freeze, P. He, A. Srivastava, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.

H. Freeze, C. Lebrilla, E. Faqeih, 2018, American journal of human genetics.

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

H. Freeze, D. Adams, C. Boerkoel, 2016, American journal of human genetics.

Glycosylation, Congenital Disorders of

H. Freeze, B. Ng, 2013 .

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

I. Scheffer, D. Nickerson, M. Bamshad, 2022, Journal of Medical Genetics.

Metabolic heritage mapping: heterogenous pools of cytoplasmic nucleotide sugars are selectively utilized by various glycosyltransferases

H. Freeze, C. Lebrilla, P. Azadi, 2021 .

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.

H. Freeze, R. Gilmore, B. Ng, 2013, Human molecular genetics.

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.

H. Freeze, G. Matthijs, A. Ribes, 2021, American Journal of Human Genetics.

Mutations in the translocon‐associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

J. Shendure, D. Nickerson, Martin Kircher, 2019, Journal of inherited metabolic disease.

Expanding the Molecular and Clinical Phenotype of SSR4‐CDG

J. Shendure, D. Nickerson, Martin Kircher, 2015, Human mutation.

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

H. Freeze, S. Houliston, H. Bokhoven, 2010, Cell.

SRD5A3‐CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

J. Shendure, D. Nickerson, Martin Kircher, 2016, American journal of medical genetics. Part A.

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Undiagnosed Diseases Network, J. Rosenfeld, I. Scheffer, 2020, Journal of inherited metabolic disease.

The Swedish COG6‐CDG experience and a comprehensive literature review

H. Freeze, E. Eklund, S. Ygberg, 2022, JIMD reports.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Y. Wada, J. Veltman, C. Stanley, 2014, The New England journal of medicine.

A Dominant Heterozygous Mutation in COG4 Causes Saul–Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling

H. Freeze, Xin-Xin I. Zeng, Mitali A Tambe, 2021, Frontiers in Cell and Developmental Biology.

A single heterozygous mutation in COG4 disrupts zebrafish early development via Wnt signaling

H. Freeze, Xin-Xin I. Zeng, Mitali A Tambe, 2021, bioRxiv.

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

Emily H Turner, J. Shendure, D. Nickerson, 2013, American journal of human genetics.

Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients

B. D. de Vries, H. Freeze, G. Mancini, 2019, Journal of inherited metabolic disease.

COG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells

H. Freeze, Rabi Murad, A. Campos, 2022, Frontiers in Cell and Developmental Biology.

Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement

H. Freeze, F. Alkuraya, M. He, 2022, Journal of Medical Genetics.

Targeted PCR-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation (CDG)

M. Hegde, H. Freeze, Melanie A. Jones, 2022 .

Solving glycosylation disorders: fundamental approaches reveal complicated pathways.

M. Bamshad, H. Freeze, J. Chong, 2014, American journal of human genetics.

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.

D. Nickerson, S. Dalton, M. Bamshad, 2021, American journal of human genetics.

ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA

H. Freeze, K. Raymond, A. Ortega-García, 2014, Molecular genetics and metabolism reports.

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking

H. Freeze, G. Matthijs, J. Jaeken, 2022, Human molecular genetics.

ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines

H. Freeze, Christina Lam, L. Wolfe, 2022, Journal of inherited metabolic disease.

Dissecting the molecular organization of the translocon-associated protein complex

Friedrich Förster, Wolfgang Baumeister, Stefan Pfeffer, 2017, Nature Communications.

N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.

H. Freeze, Bobby G Ng, Hudson H Freeze, 2019, Cell reports.

COG8 deficiency causes new congenital disorder of glycosylation type IIh.

H. Freeze, E. Eklund, B. G. Ng, 2007, Human molecular genetics.

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.

William A Gahl, Miao He, H. Freeze, 2015, Human molecular genetics.

RFT1 deficiency in three novel CDG patients

T. Hennet, H. Freeze, G. Matthijs, 2009, Human mutation.

Therapeutic Monosaccharides: Looking back, moving forward.

H. Freeze, P. Sosicka, B. Ng, 2019, Biochemistry.

Golgi glycosylation and human inherited diseases.

H. Freeze, B. Ng, 2011, Cold Spring Harbor perspectives in biology.

A sensitive green fluorescent protein biomarker of N‐glycosylation site occupancy

H. Freeze, I. Singeç, Francesca Soncin, 2012, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Congenital Disorders of Glycosylation

H. Freeze, B. G. Ng, P. Sosicka, 2021, Comprehensive Glycoscience.

MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature

H. Freeze, S. Elsayed, Nermine Mohammed, 2020, JIMD reports.

Defining the clinical phenotype of Saul-Wilson syndrome.

D. Earl, H. Freeze, W. Gahl, 2020, Genetics in Medicine.

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

J. Shendure, D. Nickerson, Martin Kircher, 2018, JIMD reports.

Neurological aspects of human glycosylation disorders.

H. Freeze, E. Eklund, M. Patterson, 2015, Annual review of neuroscience.

Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions

H. Freeze, C. Lebrilla, P. Azadi, 2022, The Journal of cell biology.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ellen F. Macnamara, M. Westerfield, D. Earl, 2018, American journal of human genetics.

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

H. Freeze, K. Bilguvar, J. Christodoulou, 2021, Journal of inherited metabolic disease.

Perspectives on Glycosylation and Its Congenital Disorders.

H. Freeze, B. Ng, 2018, Trends in genetics : TIG.

Neurology of inherited glycosylation disorders

H. Freeze, E. Eklund, B. G. Ng, 2012, The Lancet Neurology.

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

M. Hegde, H. Freeze, Melanie A. Jones, 2012, American journal of human genetics.

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

J. van Reeuwijk, L. Hoefsloot, H. van Bokhoven, 2010, Brain : a journal of neurology.

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

J. Rosenfeld, I. Scheffer, S. Nelson, 2019, Human mutation.

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

J. Shendure, D. Nickerson, Martin Kircher, 2017, Mitochondrion.

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.

K. Campbell, H. Freeze, K. Raymond, 2013, Molecular genetics and metabolism.

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

Madhuri R Hegde, M. Hegde, H. Freeze, 2011, Genetics in Medicine.

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

H. Freeze, V. Dissanayake, M. Schmidts, 2022, Clinical genetics.

Congenital nephrotic syndrome in an infant with ALG1‐congenital disorder of glycosylation

H. Freeze, P. Brophy, J. Brumbaugh, 2016, Pediatrics international : official journal of the Japan Pediatric Society.

ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients

J. Shendure, D. Nickerson, Martin Kircher, 2016, Human mutation.

Dissecting Functions of the Conserved Oligomeric Golgi Tethering Complex Using a Cell-Free Assay

H. Freeze, B. G. Ng, D. Ungar, 2013, Traffic.

Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation

H. Freeze, Christina Lam, L. Wolfe, 2023, Journal of inherited metabolic disease.

DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype

H. Freeze, M. Shinawi, M. He, 2022, Journal of inherited metabolic disease.

Factor VIII and vWF deficiency in STT3A‐CDG

H. Freeze, Christina Lam, J. Merritt, 2019, Journal of inherited metabolic disease.

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.

M. Hegde, H. Freeze, Melanie A. Jones, 2012, American journal of human genetics.

Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)

H. Freeze, B. G. Ng, B. Ng, 2015, Journal of Inherited Metabolic Disease.

A congenital disorder of deglycosylation: biochemical characterization of N‐glycanase 1 deficiency in patient fibroblasts (607.3)

P. Cresswell, H. Freeze, R. Kaufman, 2014, Glycobiology.

SRD5A3 is required for the conversion of polyprenol to dolichol, essential for N-linked protein glycosylation

H. Freeze, R. Wevers, J. Gleeson, 2010 .

40 – Disorders of Glycosylation

H. Freeze, M. Patterson, B. Ng, 2017 .

Glycomics, Glycobiology, and Glyco-Medicine

H. Freeze, B. G. Ng, B. Ng, 2013 .

Identification of Intercellular Cell Adhesion Molecule 1 (ICAM-1) as a Hypoglycosylation Marker in Congenital Disorders of Glycosylation Cells*

H. Freeze, P. He, Wenhong Zhu, 2012, The Journal of Biological Chemistry.

Phosphomannose Isomerase Inhibitors Improve N-Glycosylation in Selected Phosphomannomutase-deficient Fibroblasts*

H. Freeze, P. He, N. Cosford, 2011, The Journal of Biological Chemistry.

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

J. Rosenfeld, H. Freeze, V. Sutton, 2020, Genetics in Medicine.

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.

M. Hegde, H. Freeze, J. Abdenur, 2013, Molecular genetics and metabolism.

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.

J. Shendure, D. Nickerson, Martin Kircher, 2014, Human molecular genetics.

Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG

J. Rosenfeld, D. Nickerson, M. Bamshad, 2021, Journal of inherited metabolic disease.

Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG

H. Freeze, E. Eklund, G. Matthijs, 2016, Journal of Inherited Metabolic Disease.

Chemical Therapies for Congenital Disorders of Glycosylation.

H. Freeze, P. Sosicka, B. Ng, 2021, ACS chemical biology.

Molecular and clinical characterization of a Moroccan Cog7 deficient patient.

H. Freeze, B. G. Ng, M. Durán, 2007, Molecular genetics and metabolism.

Mutations in GET4 disrupt the transmembrane domain recognition complex pathway

D. Nickerson, M. Bamshad, H. Freeze, 2020, Journal of inherited metabolic disease.

Defining the clinical phenotype of Saul-Wilson syndrome.

D. Earl, H. Freeze, W. Gahl, 2020, Genetics in Medicine.

Encephalopathy caused by novel mutations in the CMP‐sialic acid transporter, SLC35A1

J. Shendure, D. Nickerson, M. Ensslen, 2017, American journal of medical genetics. Part A.

Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association

H. Freeze, Christina Lam, G. Enns, 2023, Journal of inherited metabolic disease.

Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.

H. Freeze, C. Ferreira, L. Wolfe, 2019, Pediatric neurology.

Disorders Affecting Glycosylation

H. Freeze, L. Wolfe, B. Ng, 2021 .

Expanding the molecular and clinical phenotypes of FUT8‐CDG

S. Robertson, H. Freeze, M. Faghihi, 2020, Journal of inherited metabolic disease.

Identification of the first COG-CDG patient of Indian origin.

Wanjin Hong, H. Freeze, W. Hong, 2011, Molecular genetics and metabolism.

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.

J. Rosenfeld, H. Freeze, Mahim Jain, 2018, American journal of human genetics.

Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature

H. Freeze, M. Almannai, Ali Al-Otaibi, 2021, Molecular genetics and metabolism reports.

ALG11‐CDG syndrome: Expanding the phenotype

H. Freeze, V. Kimonis, N. Gallant, 2019, American Journal of Medical Genetics. Part A.

Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation

H. Freeze, E. Eklund, P. Vajro, 2018, Orphanet Journal of Rare Diseases.

Solving glycosylation disorders: fundamental approaches reveal complicated pathways.

M. Bamshad, H. Freeze, Jessica X. Chong, 2014, American journal of human genetics.

Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice

H. Freeze, P. He, C. DeRossi, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Y. Wada, J. Veltman, C. Stanley, 2014, The New England journal of medicine.