Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

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

(2019) Mari-Anne Vals et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Perspectives on Glycosylation and Its Congenital Disorders

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

What is new in CDG?

(2017) Jaak Jaeken et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

(2017) Miriam S. Reuter et al.   JAMA Psychiatry

Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents

(2016) Sumeet A. Khetarpal et al.   Cell Metabolism

Deconstruction of O-glycosylation--GalNAc-T isoforms direct distinct subsets of the O-glycoproteome

(2015) K. T. Schjoldager et al.   EMBO REPORTS

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

A glycogene mutation map for discovery of diseases of glycosylation

(2014) Lars Hansen et al.   GLYCOBIOLOGY

Hyaluronan Deficiency Due to Has3 Knock-Out Causes Altered Neuronal Activity and Seizures via Reduction in Brain Extracellular Space

(2014) A. M. Arranz et al.   JOURNAL OF NEUROSCIENCE

Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations

(2012) E. Morava et al.   PEDIATRICS

Probing isoform-specific functions of polypeptide GalNAc-transferases using zinc finger nuclease glycoengineered SimpleCells

(2012) K. T.- B. G. Schjoldager et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity

(2011) R Abou Jamra et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

United States Head Circumference Growth Reference Charts: Birth to 21 Years

(2010) Jonathan D. Rollins et al.   JOURNAL OF PEDIATRICS

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

(2009) S. Ashwal et al.   NEUROLOGY

Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers

(2009) K. Guda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

(2008) Emma Clement et al.   ANNALS OF NEUROLOGY

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

(2008) Sekar Kathiresan et al.   NATURE GENETICS