J. P. Fryns
Centre For Human Genetics(IN)Center for Human Genetics(US)KU Leuven(BE)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders, Congenital limb and hand anomalies, Congenital heart defects research
Most-Cited Works
- → Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy(2002)431 cited
- → p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation(2001)377 cited
- → A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation(1999)296 cited
- → A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation(2000)236 cited
- → Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients(2007)206 cited
- → Single-cell chromosomal imbalances detection by array CGH(2006)204 cited