J. P. Fryns

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

Petter Strømme, Marie Mangelsdorf, Marie Shaw et al. · Nature Genetics · 2002 · 431 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +7

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad et al. · The American Journal of Human Genetics · 2001 · 376 citations · Full text

Eec Syndrome, Developmental Biology, Genetic Disorder +8

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

Alain Carrié, T Bienvenu, Marie Claude Vinet et al. · Nature Genetics · 1999 · 294 citations

Neuropsychology, Molecular Neuroscience, Psychiatry +12

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

Ramzi Zemni, Thierry Bienvenu, Marie Claude Vinet et al. · Nature Genetics · 2000 · 236 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +12

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

Bernard Thienpont, Luc Mertens, Thomy de Ravel et al. · European Heart Journal · 2007 · 206 citations · Full text