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Jean‐Pierre Fryns

Researcher Next ID · RN-039751

Researcher · Biochemistry, Genetics and Molecular Biology

KU Leuven

Leuven, Belgium

Accepting doctoral researchersFunding unknown
Works count
646
Citation count
15,359
H-index
61
i10-index
172

Research interests

Biochemistry, Genetics and Molecular Biology
Medicine
Genomic variations and chromosomal abnormalities
Genetics and Neurodevelopmental Disorders
Congenital heart defects research
Prenatal Screening and Diagnostics
Genetic Syndromes and Imprinting

Publications

  • Chromosome instability is common in human cleavage-stage embryos

    Nature Medicine · 2009 · https://doi.org/10.1038/nm.1924

  • Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

    The American Journal of Human Genetics · 2008 · https://doi.org/10.1016/j.ajhg.2007.11.002

  • Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

    The American Journal of Human Genetics · 2005 · https://doi.org/10.1086/427563

  • Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

    The American Journal of Human Genetics · 2003 · https://doi.org/10.1086/375454

Current projects

    No projects listed.