Giulia Ascari
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View article: Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss
Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss Open
Inactivating variants as well as a missense variant in the centrosomal CEP78 gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher synd…
View article: Functional characterization of the first missense variant in <i>CEP78</i> , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility
Functional characterization of the first missense variant in <i>CEP78</i> , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility Open
Inactivating variants in the centrosomal CEP78 gene have been found in cone-rod dystrophy with hearing loss (CRDHL), a particular phenotype distinct from Usher syndrome. Here, we identified and functionally characterized the first CEP78 mi…
View article: CIL-EYE : functional characterization of potential ciliary genes involved in syndromic inherited retinal diseases
CIL-EYE : functional characterization of potential ciliary genes involved in syndromic inherited retinal diseases Open
Inherited retinal diseases (IRDs) are a group of diseases that are caused by dysfunction or loss of photoreceptors or retinal pigment epithelium. They are amongst the most frequent causes of early-onset blindness and account for 5% of blin…