Cartault, François

Top Publications

Top Publications Authored or Co-Authored by "Cartault, François"

• Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

  Human Mutation, Volume 35, No. 8, Year 2014, Citations 160
• Biallelic mutations of methionyl-tRNA synthetase cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island

  American Journal of Human Genetics, Volume 96, No. 5, Year 2015, Citations 85
• Specific variants in WDR35 cause a distinctive form of ellis-van creveld syndrome by disrupting the recruitment of the evc complex and smo into the cilium

  Human Molecular Genetics, Volume 24, No. 14, Article ddv152, Year 2015, Citations 19
• Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect

  British Journal of Dermatology, Volume 181, No. 5, Year 2019, Citations 11
• The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

  Kidney International, Volume 104, No. 2, Year 2023, Citations 3