Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1

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

(2021) Hind Alsharhan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N‐glycans in patient's serum

(2021) Jana Ziburová et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection–Electrospray Ionization–Quadrupole Time-of-Flight Mass Spectrometry

(2019) Jie Chen et al.   CLINICAL CHEMISTRY

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

(2018) Angel Ashikov et al.   HUMAN MOLECULAR GENETICS

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

(2018) Nurulamin Abu Bakar et al.   Translational Research

Perspectives on Glycosylation and Its Congenital Disorders

(2018) Bobby G. Ng et al.   TRENDS IN GENETICS

Congenital disorders of glycosylation (CDG): Quo vadis?

(2017) Romain Péanne et al.   European Journal of Medical Genetics

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

(2016) Jos C. Jansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BRCA Testing by Single-Molecule Molecular Inversion Probes

(2016) Kornelia Neveling et al.   CLINICAL CHEMISTRY

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

(2016) Bobby G. Ng et al.   HUMAN MUTATION

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

(2015) W. Zhang et al.   CLINICAL CHEMISTRY

High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation

(2015) Monique van Scherpenzeel et al.   Translational Research

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

(2013) J. B. Hiatt et al.   GENOME RESEARCH

Isomer-specific chromatographic profiling yields highly sensitive and specific potential N-glycan biomarkers for epithelial ovarian cancer

(2013) Serenus Hua et al.   JOURNAL OF CHROMATOGRAPHY A

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

(2012) Sharita Timal et al.   HUMAN MOLECULAR GENETICS

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE