| The genetic structure and history of Africans and African Americans SA Tishkoff, FA Reed, FR Friedlaender, C Ehret, A Ranciaro, A Froment, ... science 324 (5930), 1035-1044, 2009 | 1798 | 2009 |
| Genetic origins of lactase persistence and the spread of pastoralism in Africa A Ranciaro, MC Campbell, JB Hirbo, WY Ko, A Froment, P Anagnostou, ... The American Journal of Human Genetics 94 (4), 496-510, 2014 | 250 | 2014 |
| A third major locus for autosomal dominant hypercholesterolemia maps to 1p34. 1-p32 M Varret, JP Rabes, B Saint-Jore, A Cenarro, JC Marinoni, F Civeira, ... The American journal of human genetics 64 (5), 1378-1387, 1999 | 234 | 1999 |
| APRI: a simple bedside marker for advanced fibrosis that can avoid liver biopsy in patients with NAFLD/NASH FC Kruger, CR Daniels, M Kidd, G Swart, K Brundyn, C Van Rensburg, ... South African Medical Journal 101 (7), 477-480, 2011 | 215 | 2011 |
| Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations. MJ Kotze, WJ De Villiers, K Steyn, JA Kriek, AD Marais, E Langenhoven, ... Arteriosclerosis and Thrombosis: A Journal of Vascular Biology 13 (10), 1460 …, 1993 | 146 | 1993 |
| Prevalence of symptoms, comorbidities, fibrin amyloid microclots and platelet pathology in individuals with Long COVID/Post-Acute Sequelae of COVID-19 (PASC) E Pretorius, C Venter, GJ Laubscher, MJ Kotze, SO Oladejo, LR Watson, ... Cardiovascular diabetology 21 (1), 148, 2022 | 145 | 2022 |
| The UMD‐LDLR database: additions to the software and 490 new entries to the database L Villéger, M Abifadel, D Allard, JP Rabès, R Thiart, MJ Kotze, C Béroud, ... Human mutation 20 (2), 81-87, 2002 | 138 | 2002 |
| LDLR Database: new additions to the database and the software, and results of the first molecular analysis M Varret, JP Rabés, R Thiart, MJ Kotze, H Baron, A Cenarro, O Descamps, ... Nucleic acids research 26 (1), 248-252, 1998 | 120 | 1998 |
| Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolaemia FJ Raal, AS Pappu, DR Illingworth, GJ Pilcher, AD Marais, JC Firth, ... Atherosclerosis 150 (2), 421-428, 2000 | 117 | 2000 |
| Fat mass and obesity-associated (FTO) gene polymorphisms are associated with physical activity, food intake, eating behaviors, psychological health, and modeled change in body … J Harbron, L Van der Merwe, MG Zaahl, MJ Kotze, M Senekal Nutrients 6 (8), 3130-3152, 2014 | 112 | 2014 |
| The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners MJ Kotze, E Langenhoven, L Warnich, L Plessis, AE Retief Annals of human genetics 55 (2), 115-121, 1991 | 104 | 1991 |
| Spectrum of Mutations in the HFE Gene Implicated in Haemochromatosis and Porphyria JNP de Villiers, R Hillermann, L Loubser, MJ Kotze Human Molecular Genetics 8 (8), 1517-1522, 1999 | 102 | 1999 |
| Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria L Warnich, MJ Kotze, IM Groenewald, JZ Groenewald, MG van Brakel, ... Human Molecular Genetics 5 (7), 981-984, 1996 | 98 | 1996 |
| Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor … K Steyn, YP Goldberg, MJ Kotze, M Steyn, ASP Swanepoel, JM Fourie, ... Human genetics 98, 479-484, 1996 | 94 | 1996 |
| Mapping of novel regions of DNA gain and loss by comparative genomic hybridization in esophageal carcinoma in the Black and Colored populations of South Africa L Du Plessis, E Dietzsch, M Van Gele, N Van Roy, P Van Helden, ... Cancer research 59 (8), 1877-1883, 1999 | 93 | 1999 |
| Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK. J Leggo, A Dalton, PJ Morrison, A Dodge, M Connarty, MJ Kotze, ... Journal of medical genetics 34 (12), 982-985, 1997 | 90 | 1997 |
| Analysis of the NRAMP1 gene implicated in iron transport: association with multiple sclerosis and age effects MJ Kotze, JNP de Villiers, RN Rooney, JJ Grobbelaar, EPG Mansvelt, ... Blood Cells, Molecules, and Diseases 27 (1), 44-53, 2001 | 84 | 2001 |
| FH Afrikaner-3 LDL receptor mutation results in defective LDL receptors and causes a mild form of familial hypercholesterolemia JFG van Roggen, DR Van der Westhuyzen, GA Coetzee, AD Marais, ... Arteriosclerosis, thrombosis, and vascular biology 15 (6), 765-772, 1995 | 78 | 1995 |
| Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease … R Durst, R Colombo, S Shpitzen, LB Avi, Y Friedlander, R Wexler, FJ Raal, ... The American Journal of Human Genetics 68 (5), 1172-1188, 2001 | 73 | 2001 |
| The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia MJ Kotze, E Langenhoven, L Warnich, L Du Plessis, MP Marx, ... Health & Medical Publishing Group, 1989 | 67 | 1989 |
