Associated Papers
Zebrafish model of RERE syndrome recapitulates key ophthalmic defects that are rescued by small molecule inhibitor of shh signaling.
George A et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2023
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Guo H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
Fregeau B et al.
American Journal of Human Genetics, 2016
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