Urban, M.F.

Publications

57

Citations

990

h-index

18

Publishing journals

40

Years of publications

20+

Active since

2007

References

1.3K

Institutions

7

1. Application of genetic testing criteria for hereditary breast cancer in South Africa
   Breast Cancer Research and Treatment, Volume 210, Issue 2, Pages 477-486, Year 2025
2. 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
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. Prevalence and Reclassification of Genetic Variants in South African Populations with Breast Cancer
   Genes, Chromosomes and Cancer, Volume 63, Issue 9, Page e23275, Year 2024
5. Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient
   Clinical Case Reports, Volume 11, Issue 3, Pages e7075-e7075, Year 2023
6. Deliberate delays in offering abortion to pregnant women with fetal anomalies after 24 weeks' gestation at a centre in South Africa
   Developing World Bioethics, Volume 23, Issue 2, Pages 109-121, Year 2023
7. Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective study
   Seizure: European Journal of Epilepsy, Volume 101, Pages 197-204, Year 2022
8. Barriers and facilitators of alcohol abstinence during pregnancy.
   African Journal of Reproductive Health, Volume 26, Issue 8, Pages 53-65, Year 2022
9. Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity
   Greater South Information System, Year 2022
10. Impacts of High Environmental Temperatures on Congenital Anomalies: A Systematic Review
    International Journal of Environmental Research and Public Health, Volume 18, Issue 9, Pages 4910-4910, Year 2021
11. Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting
    Frontiers in Immunology, Volume 12, No. 665621, Year 2021
12. Barriers and Facilitators of Alcohol Abstinence During Pregnancy - a Qualitative Study in Rural South Africa
    Research Square (Research Square), Year 2021
13. Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients
    American Journal of Medical Genetics, Part A, Volume 182, Issue 10, Pages 2230-2235, Year 2020
14. CHARGE syndrome: genetic aspects and dental challenges, a review and case presentation
    Head & Face Medicine, Volume 16, Issue 1, Pages 10-10, Year 2020
15. A 5-Year Retrospective Review of the Health Supervision Received by Children with Down Syndrome at a South African Regional Hospital
    Journal of Tropical Pediatrics, Volume 66, Issue 4, Pages 441-447, Year 2020
16. Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report
    BMC Medical Genetics, Volume 21, Issue 1, Pages 124-124, Year 2020
17. Birth outcomes following antiretroviral exposure during pregnancy: Initial results from a pregnancy exposure registry in South Africa
    Southern African Journal of HIV Medicine, Volume 20, Issue 1, Year 2019
18. Primary immunodeficiency diseases in a tuberculosis endemic region: challenges and opportunities
    Genes & Immunity, Volume 20, Issue 6, Pages 447-454, Year 2019
19. Neural tube defect diagnosis and outcomes at a tertiary South African hospital with intensive case ascertainment
    South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, Volume 109, Issue 9, Pages 698-703, Year 2019
20. Cancer genetics: An approach to suspected hereditary breast or colorectal cancer
    South African Medical Journal, Volume 109, Issue 4, Pages 214-218, Year 2019

No publications in the index yet.