J P Fryns

GATA3 haplo-insufficiency causes human HDR syndrome

Hilde Van Esch, Peter Groenen, M. Andrew Nesbit et al. · Nature · 2000 · 645 citations

Autoimmune Disease, Genetic Disorder, Genetics +5

Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders

Annick Vogels, Jenneke van den Ende, Kathelijn Keymolen et al. · European Journal of Human Genetics · 2003 · 184 citations · Full text

Clinical Epidemiology, Pediatrics, Prader–willi Syndrome +4

What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate

Evelyne Vanneste, Thierry Voet, Cindy Melotte et al. · Human Reproduction · 2009 · 169 citations · Full text

Genetic Testing, Fertility, Cytogenetics +26

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome

Yanyan Jiang, Muriel Rigolet, Déborah Bourc’his et al. · Human Mutation · 2004 · 132 citations

Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Bernard Thienpont, Frédérique Béna, Jeroen Breckpot et al. · Journal of Medical Genetics · 2009 · 123 citations · Full text