Back to IIDMM

Publications

  1. Mathers JC, Movahedi M, Macrae F, Mecklin JP, Moeslein G, Olschwang S, Eccles D, Evans G, Maher ER, Bertario L, Bisgaard ML, Dunlop M, Ho JW, Hodgson S, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar R, Side L, Scott RJ, Thomas HJ, Vasen H, Gerdes AM, Barker G, Crawford G, Elliott F, Pylvanainen K, Wijnen J, Fodde R, Lynch H, Bishop DT, Burn J; CAPP2 Investigators. (2012).   Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. The Lancet Oncology (2012) 13(12):1242-9.
  2. Roberts LJ, Nossek CA, Greenberg LJ, Ramesar RS. Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients. Molecular Vision (2012) 18:280-9.
  3. Swart M, Whitehorn H, Ren Y, Smith P, Ramesar RS, and Dandara C. PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in HIV/AIDS patients. BMC Medical Genetics (2012) 13:112.
  4. Patrinos GP, Smith TD, Howard H, Al-Mulla F, Chouchane L, Hadjisavvas A, Hamed SA, Li X, Marafie M, Ramesar RS, Ramoszfj, de Ravel T, El-Ruby MO, Shrestha TR,  Sobrido M, Tadmouri G, Witsch-Baumgartner M,  Zilfalil BA, Auerbach AD, Carpenter K, Cutting GR, Dung VC, Grody W, Hasler J, Jorde L, Kaput J, Macek M, Matsubara Y, Padilla C, Robinson H, Rojas-Martinez A, Taylor GR, Vihinen M, Weber T, Burn J, Qi M,36, Cotton RGH, Rimoin D. Human variome project country nodes: Documenting genetic information within a country. Human Mutation 2012 33(11):1513-9.
  5. Wonkam A, Ponde C, Nicholson N, Fieggen K, Ramesar R, Davidson A. The burden of sickle cell disease in Cape Town. South African Medical Journal (2012) 102(9):753-4. Beighton P, Fieggen K, Wonkam A, Ramesar R, Greenberg J. The University of Cape Town's contribution to medical genetics in Africa - from the past into the future. South African Medical Journal (2012) 2(102):6.
  6. Hitchins M, Owens S, Kwok CT, Godsmark G, Algar U, Ramesar R (2011) Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort. Clin Genet. 2011 Mar 4. doi: 10.1111/j.1399-0004.2011.01660.x. [Epub ahead of print] PMID:21375527
  7. Patrinos GP, Al Aama J, Al Aqeel A, Al-Mulla F, Borg J, Devereux A, Felice AE, Macrae F, Marafie MJ, Petersen MB, Qi M, Ramesar RS, Zlotogora J, Cotton RG. Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection. Hum Mutat. 2011 Jan;32(1):2-9. PMID:: 21089065; Central PMCID: PMC3058135.
  8. Stupart DA, Goldberg PA, Baigrie RJ, Algar U, Ramesar R (2011) Surgery for colonic cancer in HNPCC:total vs segmental colectomy. Colorectal Dis. Dec; 13(12):1395-9.doi: 10.1111/j.1463-1318.2010.02467.x
  9. Burn J, Gerdes AM, Macrae F, Mecklin JP, Moeslein G, Olschwang S, Eccles D, Evans DG, Maher ER, Bertario L, Bisgaard ML, Dunlop MG, Ho JW, Hodgson SV, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar R, Side L, Scott RJ, Thomas HJ, Vasen HF, Barker G, Crawford G, Elliott F, Movahedi M, Pylvanainen K, Wijnen JT, Fodde R, Lynch HT, Mathers JC, Bishop DT; CAPP2 Investigators (2011) Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet. 2011 Dec 17; 378 (9809):2081-7. Epub 2011 Oct 27. PMID:22036019
  10. Rayner B, Musekiwa A, Lombard C, Ramesar RS (2011) The A142V polymorphism of the G protein coupled receptor kinase 4 gene predicts natriuretic response to saline challenge in young normotensive lean black and white South African men. Nephrology Reviews 2011; 3e
  11. Rayner B, Ramesar R, Steyn K, Levitt N, Lombard C, Charlton K. G-protein-coupled receptor kinase 4 polymorphisms predict blood pressure response to dietary modification in Black patients with mild-to-moderate hypertension. J Hum Hypertens. 2011 May 5. [Epub ahead of print] PMID: 21544086.
  12. Wentink MQ, Räkers M, Stupart DA, Algar U, Ramesar R, Goldberg PA. Incidence and histological features of colorectal cancer in the Northern Cape Province, South Africa. S Afr J Surg. 2010 Nov;48(4):109-13. PMID: 21542398.
  13. Wonkam A, Muna W, Ramesar R, Rotimi CN, Newport MJ. Capacity-building in human genetics for developing countries: initiatives and perspectives in sub-Saharan Africa. Public Health Genomics. 2010;13(7-8):492-4. Epub 2010 Mar 23. PMID: 21135570.
  14. Kohonen-Corish MR, Al-Aama JY, Auerbach AD, Axton M, Barash CI, Bernstein I, Béroud C, Burn J, Cunningham F, Cutting GR, den Dunnen JT, Greenblatt MS, Kaput J, Katz M, Lindblom A, Macrae F, Maglott D, Möslein G, Povey S, Ramesar R, Richards S, Seminara D, Sobrido MJ, Tavtigian S, Taylor G, Vihinen M, Winship I, Cotton RG; Human Variome Project Meeting. How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum Mutat. 2010 Dec;31(12):1374-81. PMID: 20960468; Central PMCID: PMC3119486.
  15. Dalvie S, Horn N, Nossek C, van der Merwe L, Stein DJ, Ramesar R. Psychosis and relapse in bipolar disorder are related to GRM3, DAOA, and GRIN2B genotype. Afr J Psychiatry (Johannesbg). 2010 Sep;13(4):297-301. PMID: 20957330.
  16. Tiffin N, Meintjes A, Ramesar R, Bajic VB, Rayner B. Computational analysis of candidate disease genes and variants for salt-sensitive hypertension in indigenous Southern Africans. PLoS One. 2010 Sep 27;5(9):e12989. PMID:20886000; Central PMCID: PMC2946338.
  17. Wonkam A, Fieggen K, Ramesar R. Beyond the Caster Semenya controversy: the case of the use of genetics for gender testing in sport. J Genet Couns. 2010 Dec;19(6):545-8. Epub 2010 Sep 8. PMID: 20824315.
  18. Sirugo G, Williams SM, Royal CD, Newport MJ, Hennig BJ, Mariani-Costantini R, Buonaguro FM, Velez Edwards DR, Ibrahim M, Soodyall H, Wonkam A, Ramesar R, Rotimi CN. Report on the 6th African Society of Human Genetics (AfSHG) Meeting, March 12-15, 2009, Yaounde, Cameroon. Am J Trop Med Hyg. 2010 Aug;83(2):226-9. PMID: 20682860; Central PMCID: PMC2911163.
  19. Blokhuis MM, Pietersen GE, Goldberg PA, Algar U, Van der Merwe L, Mbatani N, Vorster AA, Ramesar RS. Lynch syndrome: the influence of environmental factors on extracolonic cancer risk in hMLH1 c.C1528T mutation carriers and their mutation-negative sisters. Fam Cancer. 2010 Sep;9(3):357-63. PMID: 20640520.
  20. Pandor A, Ramesar R, Prince S. Cell-specific differences in the processing of the R14W CAIV mutant associated with retinitis pigmentosa 17. J Cell Biochem. 2010 Oct 15;111(3):735-41. PMID: 20626030.
  21. Dalal S, Holmes MD, Ramesar RS. Advancing public health genomics in Africa through prospective cohort studies. J Epidemiol Community Health. 2010 Jul;64(7):585-6. PMID: 20547699.
  22. Towns KV, Kipioti A, Long V, McKibbin M, Maubaret C, Vaclavik V, Ehsani P, Springell K, Kamal M, Ramesar RS, Mackey DA, Moore AT, Mukhopadhyay R, Webster AR, Black GC, O'Sullivan J, Bhattacharya SS, Pierce EA, Beggs JD, Inglehearn CF. Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. Hum Mutat. 2010 May;31(5):E1361-76. PMID: 20232351.
  23. Okpechi IG, Rayner BL, van der Merwe L, Mayosi BM, Adeyemo A, Tiffin N, Ramesar R. Genetic variation at selected SNPs in the leptin gene and association of alleles with markers of kidney disease in a Xhosa population of South Africa. PLoS One. 2010 Feb 5;5(2):e9086. PMID: 20140086; Central PMCID: PMC2816711.
  24. Savitz J, van der Merwe L, Newman TK, Stein DJ, Ramesar R. Catechol-o-methyltransferase genotype and childhood trauma may interact to impact schizotypal personality traits. Behav Genet. 2010 May;40(3):415-23. Epub 2009 Dec 22. PMID: 20033274.
  25. Cotton RG, Al Aqeel AI, Al-Mulla F, Carrera P, Claustres M, Ekong R, Hyland VJ, Macrae FA, Marafie MJ, Paalman MH, Patrinos GP, Qi M, Ramesar RS, Scott RJ, Sijmons RH, Sobrido MJ, Vihinen M; members of the Human Variome Project Data Collection from Clinics, Data Collection from Laboratories and Publication, Credit and Incentives Working Groups. Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project. Genet Med. 2009 Dec;11(12):843-9. PMID: 20010362.
  26. Stupart DA, Goldberg PA, Algar U, Ramesar R. Cancer risk in a cohort of subjects carrying a single mismatch repair gene mutation. Fam Cancer. 2009;8(4):519-23. Epub 2009 Aug 18. PMID: 19688281.
  27. Stein DJ, Horn N, Ramesar R, Savitz J. Bipolar disorder: emotional dysregulation and neuronal vulnerability. CNS Spectr. 2009 Mar;14(3):122-6. PMID: 19407708.
  28. Roberts LJ, Ramesar RS, Greenberg J. Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip. Arch Ophthalmol. 2009 Apr;127(4):549-54. PMID: 19365039.
  29. Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blöcker H, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Díaz C, Dobrowolski S, dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, Möslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O'Leary JC, de Ramirez AM, Paalman, MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Töpel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS; Contributors to the Human Variome Project Planning Meeting. Planning the human variome project: the Spain report. Hum Mutat. 2009 Apr;30(4):496-510. PMID: 19306394.
  30. Savitz J, van der Merwe L, Stein DJ, Solms M, Ramesar R. Neuropsychological status of bipolar I disorder: impact of psychosis. Br J Psychiatry. 2009 Mar;194(3):243-51. PMID: 19252155.
  31. Stupart DA, Goldberg PA, Algar U, Ramesar R. Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation. Colorectal Dis. 2009 Feb;11(2):126-30. PMID: 19143775.
  DGWUCTIIDMM