Benoît, Valérie

Top Publications

Top Publications Authored or Co-Authored by "Benoît, Valérie"

• Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

  Clinical Genetics, Volume 102, No. 2, Year 2022, Citations 57
• 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
• Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

  Journal of Medical Genetics, Volume 53, No. 11, Year 2016, Citations 20
• Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients

  International Journal of Pediatric Otorhinolaryngology, Volume 103, Year 2017, Citations 10
• Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis

  Acta Clinica Belgica: International Journal of Clinical and Laboratory Medicine, Volume 76, No. 1, Year 2021, Citations 8