Nadia Carstens

Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group

Aimé Lumaka, Nadia Carstens, Koenraad Devriendt et al. · Orphanet Journal of Rare Diseases · 2022 · 50 citations · Full text

Life Sciences, Bioinformatics, African Studies +14

Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in <i>PAX6</i> in a South African family.

Saadiah Goolam, Nadia Carstens, Mark T. Ross et al. · PubMed · 2018 · 21 citations

Medicine, Genetics, Ophthalmology +16

Genetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure

Nadia Carstens, Lize van der Merwe, Miriam Revera et al. · Journal of the Renin-Angiotensin-Aldosterone System · 2010 · 18 citations · Full text

Medicine, Cardiology, Genetics +13

Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family

Nadia Carstens, Susan Williams, Saadiah Goolam et al. · BMC Medical Genetics · 2016 · 18 citations · Full text

Medicine, Genetics, Ophthalmology +17

Accessing Biospecimens from the H3Africa Consortium

Christine M. Beiswanger, Alash’le Abimiku, Nadia Carstens et al. · Biopreservation and Biobanking · 2017 · 18 citations · Full text

Engineering, Molecular Biology, Biosecurity +2