Essop, Fahmida B.

Top Publications

Top Publications Authored or Co-Authored by "Essop, Fahmida B."

• A common Fanconi anemia mutation in black populations of sub-Saharan Africa

  Blood, Volume 105, No. 9, Year 2005, Citations 45
• Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype

  American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Volume 168, No. 7, Year 2015, Citations 43
• Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa

  South African Medical Journal, Volume 103, No. SUPPL. 1, Year 2013, Citations 16
• Diagnostic, carrier and prenatal genetic testing for fragile X syndrome and other FMR-1-related disorders in Johannesburg, South Africa: A 20-year review

  South African Medical Journal, Volume 103, No. SUPPL. 1, Year 2013, Citations 15
• Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation

  Human Genetics, Volume 106, No. 1, Year 2000, Citations 15