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List of works by Aurore Germain

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family

scientific article

CRB1 mutations in inherited retinal dystrophies

scientific article published on 27 December 2011

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

scientific article

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

scientific article

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation

scientific article published on December 2011

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

scientific article published in July 2012

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

scientific article

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