Elfride De Baere

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

Albert M. Maguire, Katherine A. High, Alberto Auricchio et al. · The Lancet · 2009 · 849 citations

Gene Therapies, Genetic Disorder, Genetics +7

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato et al. · Nature · 2012 · 563 citations · Full text

Mendelian Disorder, Cohesin Acetylation Cycle, Genetic Disorder +8

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

Elfride De Baere · Human Molecular Genetics · 2001 · 278 citations · Full text

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo, Susanne Kohl, Bart P. Leroy et al. · The American Journal of Human Genetics · 2009 · 250 citations · Full text

Ophthalmology, Genetic Disorder, Genetics +2

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

Elfride De Baere, Diane Beysen, Christine Oley et al. · The American Journal of Human Genetics · 2003 · 240 citations · Full text

Biology, Mutational Hotspots, Allelic Variant +9