Gonzalès, Marie Françoise

Top Publications

Top Publications Authored or Co-Authored by "Gonzalès, Marie Françoise"

• Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

  Nature Genetics, Volume 37, No. 9, Year 2005, Citations 247
• Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

  Journal of Medical Genetics, Volume 59, No. 6, Year 2022, Citations 91
• New insights into genotype-phenotype correlation for GLI3 mutations

  European Journal of Human Genetics, Volume 23, No. 1, Year 2015, Citations 90
• CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

  Human Mutation, Volume 30, No. 11, Year 2009, Citations 89
• High-throughput sequencing of a 4.1Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

  Human Mutation, Volume 31, No. 10, Year 2010, Citations 32