Geert R. Mortier - Genetic Mutations

Author Information

Geert R. Mortier is affiliated with the Department of Medical Genetics at the University of Antwerp and Antwerp University Hospital in Edegem, Belgium. His research spans various aspects of medical genetics, contributing significantly to the understanding of genetic disorders and their implications on health.

Research Contributions

Geert R. Mortier has made substantial contributions to the field of genetics and medical research. In 2022, his work included studies on hepatitis B vaccination, the differentiation of induced pluripotent stem cells into chondrocytes, and the identification of genetic variants causing specific skeletal disorders. His research also delved into the genetic underpinnings of extreme tall stature and rare genetic skeletal disorders. In 2021, some of his notable works included an international consensus statement on achondroplasia, studies on primary microcephaly, and the genetic factors involved in Keratoconus and juvenile idiopathic arthritis.

Aliases

The author is also known by several aliases, including G R Mortier, Geert R. Mortier, G Mortier, and G. R. Mortier. These aliases are commonly used across various publications and databases.

Publication and Citation Metrics

Metric	Value
Citation Count	19,884
H-index	67
Paper Count	373

Publications:

Preexisting memory CD4 T cells in naïve individuals confer robust immunity upon hepatitis B vaccination

DOI: 10.7554/eLife.68388

Year: 2022

Front & Back Matter

DOI: 10.1159/000522350

Year: 2022

Differentiation of Induced Pluripotent Stem Cells Into Chondrocytes: Methods and Applications for Disease Modeling and Drug Discovery

DOI: 10.1002/jbmr.4524

Year: 2022

Front & Back Matter

DOI: 10.1159/000523832

Year: 2022

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia

DOI: 10.1002/humu.24368

Year: 2022

Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature

DOI: 10.1210/jendso/bvac019

Year: 2022

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

DOI: 10.1038/s41574-021-00595-x

Year: 2021

Phenotypes and genotypes in outbred and inbred Primary microcephaly: high incidence of epilepsy

DOI: 10.22541/au.160978661.19941555/v1

Year: 2021

Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes.

DOI: 10.1038/s41431-021-00849-2

Year: 2021

Destructive juvenile idiopathic arthritis: do not overlook rare genetic skeletal disorders

DOI: 10.1016/S2665-9913(21)00109-0

Year: 2021

What is CFTR Protein?

What Genetic Conditions Are Commonly Addressed in Occupational Therapy?

What are Synonymous Codons?

What are the Challenges in Populace Genomics?

Which Genes Are Commonly Involved?

Can Beneficial Mutations Be Induced?

What is BLAST?

Why are Non-Coding Regions Important?

What is Populace Genomics?

Are All Environmental Mutations Harmful?

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