R. frank Kooy - Genetic Mutations

Author Information

R. Frank Kooy is a prominent researcher affiliated with the Department of Medical Genetics at the University of Antwerp, Edegem, Belgium. His work primarily focuses on genetic studies related to neurological disorders, including fragile X syndrome, frontotemporal dementia, and other neurodevelopmental disorders.

Research Contributions

R. Frank Kooy has made significant contributions to the field of genetics, particularly in understanding the genetic underpinnings of various neurological and neurodevelopmental disorders. His recent work, published in 2022, includes studies on the protein interaction networks in frontotemporal dementia, the therapeutic potential of GABAA receptor subunit expression abnormalities in fragile X syndrome, and expanding the phenotype of B3GALNT2-related disorders. His research often explores the genetic and molecular mechanisms that could lead to new therapeutic strategies for these conditions.

Aliases

R. Frank Kooy is also known by several aliases, including R Kooy, R. Frank Kooy, R F Kooy, Robert Kooy, R.f. Kooy, and R. F. Kooy.

Publication and Citation Metrics

Metric Value
Total Papers 195
Total Citations 9221
h-index 47

Publications:

DOI: 10.3390/genes13040694

Year: 2022

DOI: 10.1038/s41431-022-01048-3

Year: 2022

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