Helene Dollfus

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Véronique Geoffroy, Claire Redin, Corinne Stoetzel, 2012, Journal of Medical Genetics.

Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis

Alexander Klistorner, Bernhard Hemmer, Pablo Villoslada, 2017, The Lancet Neurology.

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Corinne Stoetzel, Richard A. Lewis, Colin A. Johnson, 2012, Cell.