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Journal of Community Genetics|September 25, 2025
From past to progress: a retrospective study on CFTR genetic testing in South AfricaSarah Walters, Colleen Aldous, Helen MalherbeJournal of Community Genetics|August 9, 2024
Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on geneticsSarah Walters, Colleen Aldous, Helen MalherbeJournal of Community Genetics|October 10, 2022
Parents' perspectives on the use of children's facial images for research and diagnosis: a surveyLize Schoeman, Engela M Honey, Helen Malherbe, et al.Biopreservation and Biobanking|February 10, 2021
An Overview of Benefits and Challenges of Rare Disease Biobanking in Africa, Focusing on South AfricaEngela H Conradie, Helen Malherbe, Christian J Hendriksz, et al.Annals of Global Health|February 6, 2023
The Risk of Orofacial Cleft Lip/Palate Due to Maternal Ambient Air Pollution Exposure: A Call for Further Research in South AfricaCaradee Y Wright, Thandi Kapwata, Bianca Wernecke, et al.JAMA Pediatrics|July 2, 2016
Prevention of Congenital Disorders and Care of Affected Children: A Consensus StatementGary L Darmstadt, Christopher P Howson, Gijs Walraven, et al.European Journal of Medical Genetics|June 23, 2021
Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the CongoAntonio R Porras, Matthew S Bramble, Kizito Mosema Be Amoti, et al.Orphanet Journal of Rare Diseases|September 11, 2024
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseasesChiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, et al.PLOS Global Public Health|June 28, 2023
The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping reviewAminkeng Zawuo Leke, Helen Malherbe, Emma Kalk, et al.Frontiers in Pediatrics|December 31, 2020
Barriers and Considerations for Diagnosing Rare Diseases in Indigenous PopulationsCarla S D'Angelo, Azure Hermes, Christopher R McMaster, et al.Pageof 1