Rieubland, Claudine

Top Publications

Top Publications Authored or Co-Authored by "Rieubland, Claudine"

• Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

  Nature Communications, Volume 14, No. 1, Article 4109, Year 2023, Citations 100
• The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

  Brain, Volume 146, No. 8, Year 2023, Citations 100
• SCN5A mutations in 442 neonates and children: Genotype-phenotype correlation and identification of higher-risk subgroups

  European Heart Journal, Volume 39, No. 31, Year 2018, Citations 51
• Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

  Genetics in Medicine, Volume 23, No. 7, Year 2021, Citations 44
• Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

  European Journal of Human Genetics, Year 2023, Citations 15