J. P. Fryns

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

Koenraad Devriendt, Annette S. Kim, Gert Mathijs et al. · Nature Genetics · 2001 · 432 citations

Genetic Disorder, Genetics, Pathology +2

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Bregje W.M. van Bon, Heather C. Mefford, Björn Menten et al. · Journal of Medical Genetics · 2009 · 366 citations · Full text

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

Melanie M. Hagleitner, Arjan C. Lankester, P Maraschio et al. · Journal of Medical Genetics · 2007 · 215 citations

Mental status of females with an FMR1 gene full mutation.

Bert Ba de Vries, A. M. Wiegers, Apt Smits et al. · PubMed · 1996 · 207 citations

Prader–Willi syndrome: Causes of death in an international series of 27 cases

C. T. R. M. Schrander‐Stumpel, Leopold Curfs, Prapto Sastrowijoto et al. · American Journal of Medical Genetics Part A · 2003 · 201 citations