Féréc, Claude F.

Top Publications

Top Publications Authored or Co-Authored by "Féréc, Claude F."

• Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

  European Journal of Human Genetics, Volume 14, No. 5, Year 2006, Citations 94
• Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

  American Journal of Human Genetics, Volume 99, No. 3, Year 2016, Citations 75
• Comprehensive PKD1 and PKD2 mutation analysis in prenatal autosomal dominant polycystic kidney disease

  Journal of the American Society of Nephrology, Volume 27, No. 3, Year 2016, Citations 66
• CFTR mutations in the Algerian population

  Journal of Cystic Fibrosis, Volume 7, No. 1, Year 2008, Citations 33
• Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR Gene and its implications for CNM formation at other autosomal loci

  Human Mutation, Volume 31, No. 4, Year 2010, Citations 32