Fanny Depasse

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

Julie Désir, Yves Sznajer, Fanny Depasse et al. · European Journal of Human Genetics · 2010 · 116 citations · Full text

An Augmented<i>ABCA4</i>Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

Miriam Bauwens, Julie De Zaeytijd, Nicole Weisschuh et al. · Human Mutation · 2014 · 67 citations

Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

Frauke Coppieters, Kristof Van Schil, Miriam Bauwens et al. · Genetics in Medicine · 2014 · 57 citations · Full text

Identity-by-descent–guided Mutation Analysis, Retinal Dystrophy, Ophthalmology +6

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels et al. · PLoS ONE · 2017 · 55 citations · Full text

Congenital Fixed Dilated Pupils Due to ACTA2– Multisystemic Smooth Muscle Dysfunction Syndrome

Françoise Roulez, Fran Faes, Patricia Delbeke et al. · Journal of Neuro-Ophthalmology · 2014 · 37 citations

Developmental Anomaly, Acta2 Gene, Rare Diseases +12