Sloan-Béna, Frédérique

Top Publications

Top Publications Authored or Co-Authored by "Sloan-Béna, Frédérique"

• Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

  Human Mutation, Volume 35, No. 10, Year 2014, Citations 79
• Initiation of a medical genetics service in sub-Saharan Africa: Experience of prenatal diagnosis in Cameroon

  European Journal of Medical Genetics, Volume 54, No. 4, Year 2011, Citations 40
• Challenges in clinical diagnosis of Williams-Beuren syndrome in sub-Saharan Africans: Case reports from Cameroon

  Molecular Syndromology, Volume 5, No. 6, Year 2014, Citations 17
• A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family

  BMC Genetics, Volume 14, Article 93, Year 2013, Citations 9
• MECP2 duplication syndrome in a patient from Cameroon

  American Journal of Medical Genetics, Part A, Volume 182, No. 4, Year 2020, Citations 9