selected publications
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academic article
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Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Nature Genetics.
49.
2017
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy..
Human Molecular Genetics.
26.
2017
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.
Human Molecular Genetics.
25.
2016
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Sensorineural hearing loss in OPA1-linked disorders.
Brain.
2013