Claire Jubin
Evry, 91057, France
Last Updated: 09/26/2026
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Found 8 publications
Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.
Journal: International journal of molecular sciences
Published: February 12, 2025
Interlaboratory evaluation of high molecular weight DNA extraction methods for long-read sequencing and structural variant analysis.
Journal: BMC genomics
Published: August 07, 2024
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
Journal: Human genomics
Published: March 03, 2023
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.
Journal: Molecular genetics & genomic medicine
Published: November 15, 2019
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Journal: Human mutation
Published: January 09, 2019
Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples.
Journal: PloS one
Published: August 03, 2017
Mutational landscape of yeast mutator strains.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: January 23, 2014
The complete genome of Blastobotrys (Arxula) adeninivorans LS3 - a yeast of biotechnological interest.
Journal: Biotechnology for biofuels
Published: November 13, 2013
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Last Updated: 09/26/2026