Petit, Florence

Top Publications

Top Publications Authored or Co-Authored by "Petit, Florence"

• Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: Efficient mutation detection in Bardet-Biedl and Alström Syndromes

  Journal of Medical Genetics, Volume 49, No. 8, Year 2012, Citations 122
• Mutation spectrum in the large gtpase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

  Human Mutation, Volume 33, No. 6, Year 2012, Citations 116
• Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

  Journal of Medical Genetics, Volume 59, No. 6, Year 2022, Citations 91
• Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

  Human Mutation, Volume 41, No. 12, Year 2020, Citations 49
• Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling

  Circulation, Volume 136, No. 11, Year 2017, Citations 45