Diane Beysen

Exhaustive mutation analysis of theNF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

Ludwine Messiaen, Tom Callens, Geert Mortier et al. · Human Mutation · 2000 · 500 citations

Medicine, Genetics, Molecular Genetics +17

FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

Diane Beysen, Christine Oley, Birgit Lorenz et al. · The American Journal of Human Genetics · 2003 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Novel <i><scp>KDM6A</scp></i> (<scp>UTX</scp>) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (<scp>KS2</scp>)

Siddharth Banka, Damien Lederer, Valérie Benoît et al. · Clinical Genetics · 2014 · 138 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa

Frauke Coppieters, Bart P. Leroy, Diane Beysen et al. · The American Journal of Human Genetics · 2007 · 128 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

Diane Beysen, Jeroen Raes, Bart P. Leroy et al. · The American Journal of Human Genetics · 2005 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7