Putoux, Audrey

Top Publications

Top Publications Authored or Co-Authored by "Putoux, Audrey"

• BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

  European Journal of Human Genetics, Volume 31, No. 9, Year 2023, Citations 90
• 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
• KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

  American Journal of Human Genetics, Volume 102, No. 1, Year 2018, Citations 44
• Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

  Journal of Medical Genetics, Volume 58, No. 12, Year 2021, Citations 30
• BBS10 mutations are common in 'Meckel'-type cystic kidneys

  Journal of Medical Genetics, Volume 47, No. 12, Year 2010, Citations 28