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Publications by Gert Matthijs

Mutations in MAGT1 Lead to a Glycosylation Disorder With a Variable Phenotype

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing

English

Repeat Genetic Testing With Targeted Capture Sequencing in Primary Arrhythmia Syndrome and Cardiomyopathy

European Journal of Human Genetics

English

Clinical Utility Gene Card For: GALNT3 Defective Congenital Disorder of Glycosylation

European Journal of Human Genetics

English

Expansion of the Fragile X CGG Repeat in Females With Premutation or Intermediate Alleles

American Journal of Human Genetics

English

MPDU1 Mutations Underlie a Novel Human Congenital Disorder of Glycosylation, Designated Type If

Journal of Clinical Investigation

English

Variability in the Use of CE-marked Assays for in Vitro Diagnostics of CFTR Gene Mutations in European Genetic Testing Laboratories

European Journal of Human Genetics

English

Prenatal Diagnosis in CDG1 Families: Beware of Heterogeneity

European Journal of Human Genetics

English

European-Wide Opposition Against the Breast Cancer Gene Patents

European Journal of Human Genetics

English

Patenting and Licensing in Genetic Testing: Ethical, Legal and Social Issues

European Journal of Human Genetics

English