Essop, Fahmida B.

Publications

17

Citations

221

h-index

9

Publishing journals

11

Years of publications

20+

Active since

2009

References

675

Institutions

2

1. STAC3 disorder: a common cause of congenital hypotonia in Southern African patients
   European Journal of Human Genetics, Volume 33, Issue 1, Pages 14-23, Year 2024
2. The First Case of Huntington’s Disease like 2 in Mali, West Africa
   Tremor and Other Hyperkinetic Movements, Volume 14, Issue 1, No. 15, Year 2024
3. Correction: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients (European Journal of Human Genetics, (2024), 10.1038/s41431-024-01644-5)
   European Journal of Human Genetics, Year 2024
4. Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?
   Frontiers in Genetics, Volume 11, No. 54, Year 2020
5. Fanconi anaemia in South Africa: Past, present and future
   South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, Volume 108, Issue 5, Pages 393-398, Year 2018
6. The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome
   Familial Cancer, Volume 17, Issue 4, Pages 607-613, Year 2018
7. A novel FKRP-related muscular dystrophy founder mutation in South African Afrikaner patients with a phenotype suggestive of a dystrophinopathy
   South African Medical Journal, Volume 107, Issue 1, Pages 80-82, Year 2017
8. 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, Issue 7, Pages 573-585, Year 2015
9. Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD
   Pediatric nephrology (Berlin, West), Volume 30, Issue 2, Pages 273-279, Year 2015
10. 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, Issue 12, Pages 994-994, Year 2013
11. Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa
    South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, Volume 103, Issue SUPPL. 1, Pages 999-1004, Year 2013
12. Testing for haemoglobinopathies in Johannesburg, South Africa: A 30-year review
    South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, Volume 103, Issue SUPPL. 1, Pages 989-993, Year 2013
13. Fanconi anaemia in black South African patients heterozygous for the FANCG c.637-643delTACCGCC founder mutation
    South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, Volume 103, Issue SUPPL. 1, Pages 970-973, Year 2013
14. Molecular aspects of X-linked mental retardation loci
    University of the Witwatersrand, Johannesburg Institutional Repository on DSpace (University of the Witwatersrand, Johannesburg), Year 2010
15. Chimerism in black southern African patients with true hermaphroditism 46,XX/47XY,+21 and 46,XX/46,XY
    Annals of the New York Academy of Sciences, Volume 1151, Issue 1, Pages 68-76, Year 2009
16. Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation
    Human Genetics, Volume 106, Issue 1, Pages 36-39, Year 2000
17. Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation
    Human Genetics, Volume 106, Issue 1, Pages 36-39, Year 2000

No publications in the index yet.