Authors: Perrault, Isabelle Hanein, Sylvain Gerber, Sylvie Barbet, Fabienne Ducroq, Dominique Dollfus, Helene Hamel, Christian Dufier, Jean-Louis Munnich, Arnold Kaplan, Josseline Rozet, Jean-Michal

Citation: Perrault, Isabelle et al., Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis, American journal of human genetics , 75(4), 2004, pp. 639-646

Authors: Perrault, Isabelle Saunier, Sophie Hanein, Sylvain

Citation: Perrault, Isabelle et al., Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations, American journal of human genetics (Online) AJHG , 90(5), 2012, pp. 864-870

Authors: Perrault, Isabelle Hamdan, Fadi F. Rio, Marlène

Citation: Perrault, Isabelle et al., Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness, American journal of human genetics (Online) AJHG , 94(6), 2014, pp. 891-897