1 Jun 2026Open access
Opportunities and Challenges for Surveillance of Congenital Anomalies in Sub‐Saharan AfricaPublisher siteBirth Defects Research, Global Health and Surgery
UniversitiesHelen Malherbe
Active, last published 2026
In genomics and rare diseases
Helen
Malherbe
Scholar“Research focused on Genomics and Rare Diseases and adjacent fields.”
North-West University
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01 · About the work
What I study
elen Malherbe is a researcher working on Genomics and Rare Diseases. A fuller summary will appear once they update their profile.
02 · Reach
Publication output and reach
Helen's work has been cited 554 times across 3 active years. Bars show publications per year; the line shows cumulative citation totals across publications first appearing in each year.
03 · Research focus
Topics
Genomics and Rare Diseases×16Prenatal Screening and Diagnostics×9BRCA gene mutations in cancer×8Ethics in Clinical Research×7Cleft Lip and Palate Research×6
04 · Where I am
Affiliations
Affiliation on published researchNorth-West UniversityDrawn from the institution listed on this researcher’s published work.
05 · Selected work
Recent publications
6 works4 Mar 2026Open access
The estimated burden of rare diseases in South Africa using Orphanet: An Epidemiological AnalysisPublisher siteResearch Square, Genomics and Rare Diseases
6 Sept 2024Open access9cites
A Capacity Audit of Medical Geneticists and Genetic Counsellors in South Africa, 2024: A National CrisisPublisher siteGenes, BRCA gene mutations in cancer
29 Feb 2024Open access9cites
Newborn screening in South Africa: the past, present, and plans for the futurePublisher siteRare Disease and Orphan Drugs Journal, Metabolism and Genetic Disorders
1 Jan 2024Open access
Status of prevention of neural tube defects post-folic acid fortification of cereal grains in South AfricaPublisher sitePublic Health Nutrition, Folate and B Vitamins Research
28 Jun 2023Open access11cites
The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping reviewPublisher sitePLOS Global Public Health, Prenatal Screening and Diagnostics
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