Gert L. Matthijs - Genetic Mutations

Author Information

Gert L. Matthijs is affiliated with the Laboratory for Molecular Diagnosis at the Center for Human Genetics, KU Leuven, located in Leuven, Belgium. His extensive research focuses on genetic disorders, particularly congenital disorders of glycosylation (CDG) and the implementation of genetic testing in various healthcare settings.

Research Contributions

Gert L. Matthijs has made significant contributions to the field of genetics, with a particular emphasis on congenital disorders of glycosylation (CDG). In 2022, he published multiple papers addressing various aspects of CDG, including novel variants, membrane trafficking defects, and the clinical implications of specific mutations. Additionally, his work extends to the practical implementation of genetic testing, as evidenced by his research on DNA testing for sickle cell anemia in Africa and reproductive genetic carrier screening in Flanders, Belgium.

Aliases

Gert L. Matthijs is also known by several other names including G Matthijs, G. Matthijs, and Gert Matthijs.

Publication and Citation Metrics

Citation Count	18163
h-index	71
Paper Count	507

Publications:

DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo.

DOI: 10.1002/jcla.24398

Year: 2022

CDG or not CDG.

DOI: 10.1002/jimd.12498

Year: 2022

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

DOI: 10.1093/hmg/ddac055

Year: 2022

Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation.

DOI: 10.1007/s00439-021-02400-1

Year: 2022

A Case of PMM2-CDG Caused by an A108V Mutation Associated With a Heterozygous 70 Kilobases Deletion

DOI: 10.21203/rs.3.rs-1231444/v1

Year: 2022

Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive-aged women in Flanders (Belgium).

DOI: 10.1002/jgc4.1575

Year: 2022

COG6‐CDG: Novel variants and novel malformation

DOI: 10.1002/bdr2.1981

Year: 2022

Knowledge, attitudes and preferences regarding reproductive genetic carrier screening among reproductive-aged men and women in Flanders (Belgium).

DOI: 10.1038/s41431-022-01082-1

Year: 2022

SLC37A4‐CDG: Second patient

DOI: 10.1002/jmd2.12195

Year: 2021

The evolving genetic landscape of congenital disorders of glycosylation.

DOI: 10.1016/j.bbagen.2021.129976

Year: 2021

What are Viral Vectors?

What Are Some Common Developmental Disorders Linked to Genetic Mutations?

What Are the Types of Phylogenetic Trees?

How Does the Neutral Theory Affect Our Understanding of Genetic Diversity?

Can Genetic Testing Help in Medication Management?

How does Pharmacogenomics Relate to Genetic Mutations?

How Do Genetic Mutations Contribute to Heart Disease?

What Types of Mutations Occur in Non-Coding Regions?

How are Patients Monitored During TKI Therapy?

How Are These Errors Detected?

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