Faculté de Médecine

Top Publications

Top Publications Authored or Co-Authored in "Faculté de Médecine"

• Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

  Journal of Medical Genetics, Volume 43, No. 2, Year 2006, Citations 203
• Evidence for balancing selection from nucleotide sequence analyses of human G6PD

  American Journal of Human Genetics, Volume 71, No. 5, Year 2002, Citations 155
• Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: The burden of private mutations in an extensively heterogeneous disease

  Human Genetics, Volume 127, No. 5, Year 2010, Citations 123
• Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

  Genetics in Medicine, Volume 22, No. 11, Year 2020, Citations 89
• Pitfalls of homozygosity mapping: An extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

  European Journal of Human Genetics, Volume 14, No. 11, Year 2006, Citations 68