Gimelli, Stefania

Top Publications

Top Publications Authored or Co-Authored by "Gimelli, Stefania"

• 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
• 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
• MECP2 duplication syndrome in a patient from Cameroon

  American Journal of Medical Genetics, Part A, Volume 182, No. 4, Year 2020, Citations 9
• Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism

  American Journal of Medical Genetics, Part A, Volume 164, No. 5, Year 2014, Citations 4