S Chamberlain, M Farrall, J Shaw, D Wilkes, J Carvajal, R Hillermann, K Doudney et al. 1993. Genetic recombination events which position the Friedreich Ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q. Am J Hum Genet 52: 99-109.
S Gispert, R Twells, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, Riley B, Allotey R, Nothers C, Hillermann R, et al. 1993. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genetics vol 4: 295-299.
I Yulug, R Hillermann, E Fischer. 1994. The SHB adaptor protein maps to human chromosome 9. Genomics 24 ; 615-617.
N Birmingham, R Hillermann, F Gilmour, J Martin, E Fischer. 1995. Human Glial cell line-derived neurotrophic factor (GDNF) maps to chromosome 5. Human Genet 96: 671-673.
Hillermann R, See CG, Pook M, Wilkes D, Carvajal J, Doudney K, Williamson R, Chamberlain S. 1995. Physical evidence for the position of the Friedreich’s ataxia locus FRDA proximal to D9S5. Cytogenet Cell Genetics 71: 214-216.
J Carvajal, M Pook, K Doudney, R Hillermann, D Wilkes, S Al-Mahdawi, R Williamson, Chamberlain S. 1995. Friedreich’s ataxia: a defect in signal transduction? Human Mol Genet vol 4 (8) 1411-1419.
J Carvajal, M Pook, M dos Santos, K Doudney, R Hillermann, S Minogue, R Williamson, J Hsuan, S Chamberlain. 1996. The Friedreich’s ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5 kinase. Nature Genetics vol 14: 157-162.
S Chamberlain, M Pook, J Carvajal, K Doudney, R Hillermann. 1997. Friedreich’s ataxia Fracas: Nature Genetics 15 : 338.
M Pook, J Carvajal, K Doudney, R Hillermann, S Chamberlain. 1997. Exon-intron structure of a 2.7kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity. Genomics 42: 170-172.
JNP de Villiers, R Hillermann, L Loubser, MJ Kotze. 1999. Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. Hum Mol Genet 8:8: 1517-1522.
Odell Loubser, A David Marais, Maritha J Kotze, Nicole Godenir, Rochelle Thiart, Charlotte L Scholtz, J Nico P De Villiers, Renate Hillermann, Jean C Firth, Hellmuth FH Weich, Frans Maritz, Sheena Jones, Deneys R Van Der Westhuyze. 1999. Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry. Clin Genet 55:5: 340-345.
Charlotte L Scholtz, Armand V Peeters, Christiaan F Hoogendijk, Rochelle Thiart, JNP De Villiers, Renate Hillermann, Jingwen Liu, A David Marais, Maritha J Kotze. 1999. Mutation- 59c? t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholestrolaemia. Hum Mol Genet 8: 11: 2025-2030.
J Nico P de Villiers, Renate Hillermann, Greetje de Jong, Elzet Langenhoven, Heleen Rossouw, Munro P Marx, Maritha J Kotze. 1999 High prevalence of the Cys282Tyr HFE mutation facilitates an improved diagnostic service for hereditary haemochromatosis in South Africa. SAMJ 89:3.
Roberta N Rooney, Maritha J Kotze, J Nico P de Villiers, Renate Hillermann, Jeffrey A Cohen. 1999. Multiple sclerosis, porphyria-like symptoms, and a history of iron deficiency anemia in a family of Scottish descent. Am J Med Genet 86: 2: 194-196.
GS Gebhardt, CL Scholtz, R Hillermann, HJ Odendaal. 2001. Combined heterozygosity for methyltetrahydrofolate reductase (MTHFR) mutations C677T and A1298C is associated with abruptio placentae but not with intra-uterine growth restriction. European Journal of Obstet & Gynaecol & Repro Biol: 97 (2) 174-177
R Hillermann, GS Gebhardt, R Isaacs, DW Steyn, HJ Odendaal. 2002. Mutations in prothrombin and factor V genes do not contribute significantly to placental vasculopathy in a high-risk patient cohort in South Africa. SAMJ 92 (7) 526-527.
GS Gebhardt, R Hillermann, MJ Kotze. 2002. Hyperhomocysteinaemia and fetal methylenetetrahydrofolate reductase gene status–does the fetus play a genetic role in the pathophysiology of pre-eclampsia? Hypertens Preg 21 (1) 17.
Hoal EG, Lewis LA, Jamieson SE, Tanzer F, Rossouw M, Victor T, Hillerman R, Beyers N, Blackwell JM, Van Helden PD. 2004. SLC11A1 (NRAMP1) but not SLC11A2 (NRAMP2) polymorphisms are associated with susceptibility to tuberculosis in a high-incidence community in South Africa. Int J Tuberc Lung Dis 8 (12) 1464-1471.
GS Gebhardt, WHM Peters, R Hillermann, HJ Odendaal, K Carelse-Tofa, M Raijmakers. 2004. Maternal and fetal single nucleotide polymorphisms in the epoxide hydrolase and glutathionine S-transferase P1 genes are not associated with pre-eclampsia in the coloured population of the Western Cape, South Africa. Journal of Obstet & Gynaecol 24 (8) 866-872.
R Hillermann, K Carelse, GS Gebhardt (2005). The Glu298Asp variant of the endothelial nitric oxide gene is associated with an increased risk for abruptio placentae in pre-eclampsia. Journal of Human Genetics: 415-419.
M Sammar, M Stolk, GS Gebhardt, E Pick-Golan, R Hillermann. 2006. RNA splicing and DNA polymorphisms leading to two shorter sub-forms of placental protein 13 in pre-eclampsia. Am J Obst & Gynae 195:6.
Geissbuehler V, Hillermann R, Czarniecki J, Gebhardt GS, Forst S, Eberhard J, Moser R. 2008. Third trimester plasma neurokinin B levels in women with and without preeclampsia. Journal Of Maternal-Fetal & Neonatal Medicine 21(2) : 95-100.
Gebhardt GS, Bruiners N, Hillermann R. 2009. A novel exonic variant (221delT) in the LGALS13 gene encoding placental protein 13 (PP13) is associated with preterm labour in a low risk population. Journal of Reproductive Immunology 82 : 166-173.
J Parathyrus, GS Gebhardt, R Hillermann, N Grobbelaar, M Venter, L Warnich. 2009. A pharmacogenetic study of CD4 recovery in response to HIV antiretroviral therapy in two South African population groups. Journal of Hum Genet 54: 261-265.
B Drogemoller, G Wright, D Niehaus, L Koen, S Malan, D de Silva, R Hillermann, A la Grange, M Venter, L Warnich. 2010. Characterization of the genetic profile of CYP2C19 in two South African populations. Pharmacogenomics 11: 8.
Other
S Chamberlain, J Shaw, D Wilkes, J Carvajal, K Doudney, R Hillermann, R Williamson. 1993. Molecular analysis of the Friedreich’s ataxia gene locus. Ataxias y parapleijas hereditarias. Chapter 6. 137-143.
Workshop publication
Than NG , Romero R, Hillermann R, Cozzi V, Nie G, Huppertz B. Prediction of Preeclampsia - A Workshop Report. Placenta 2008; 22 : S83-S85.