UCT/MRC Human Genetics Research Unit

Current Publications

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1. Rawlings D E, Sewcharan (Ramesar) R and Woods D R (1985). Characterisation of a broad-host-range mobilizable Thiobacillus ferrooxidans plasmid and the construction of Thiobacillus cloning vectors. In Fundamental and Applied Biohydrometallurgy. Elsevier Press. Amsterdam. Eds. RW Lawrence, RMR Branion and HG Ebnes. p419-427
2. Sewcharan (Ramesar) R, Brown L D, and Wallis F M (1985). Bacterial succession in natural mine drainage and mine drainage inoculated-TFE medium: An electron microscope study. In Electron Microscopy Society of Southern Africa - Proceedings - Volume 15: 111-112.
3. Woods D R, Rawlings D E, Barros M E, Pretorius I M and Ramesar R S. (1986). Molecular genetic studies in Thiobacillus ferrooxidans: The development of genetic systems and the expression of cloned genes. Review: Biotechnology and Applied Biochemistry 8: 231-241.
4. Ramesar R S, Woods D R and Rawlings D E (1988). Cloning and characterization of the recA gene from Thiobacillus ferrooxidans. Journal of General Microbiology. 134: 1141-1146.
5. Ramesar R S, Abratt V, Woods D R, and Rawlings D E (1989). Nucleotide sequence and expression of a cloned Thiobacillus ferrooxidans recA gene in Escherichia coli. Gene 78: 1-8.
6. Anderson I J, Tsipouras P, Sher C, Ramesar R S, Martell R W and Beighton P (1990). Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen. American Journal of Medical Genetics 37: 272-276.
7. Sher C, Ramesar R S , Learmonth I D and Beighton P (1990). Mild spondyloepiphyseal dysplasia (Namaqualand Type): Genetic Linkage to the Type II collagen gene (COL2A1). American Journal of Human Genetics 48: 518-524
8. Viljoen D, Ramesar R and Behari D. (1990). Beals Syndrome: Clinical and Molecular Investigations in a kindred of Indian descent. Clinical Genetics 39: 181-188
9. Winship I, Young K, Martell R, Ramesar R, Curtis D and Beighton P (1991). Piebaldism: an autonomous autosomal dominant entity? Clinical Genetics 39: 330-337
10. Madden MV and Ramesar RS (1991). How genes cause inherited large bowel cancer. Editorial: South African Medical Journal 80:69-70
11. Beighton P, Ramesar R, Winship I, Viljoen D, Greenberg J, Young K, Curtis D, Sellars S (1991). Hearing Impairment and Pigmentary Disturbance. In Ed: RJ Ruben, TR Van De Water, KP Steel, Annals of the New York Academy of Sciences: Genetics of Hearing Impairment: volume 630: 152-167
12. Ramesar R and Beighton P (1992). Spondyloepiphyseal Dysplasia in a Cape Town family: Linkage with the gene for type II collagen (COL2A1). American Journal of Medical Genetics 43:833-838.
13. Viljoen D and Ramesar R (1992). Evidence for paternal imprinting in familial Wiedemann-Beckwith Syndrome. Journal of Medical Genetics 29: 221-225.
14. Greenberg J, Babaya M, Beighton P and Ramesar R. Retinitis Pigmentosa, AD Type I; Exclusion of linkage to D3S47 (C17) in a large South African family of British origin (1992). Clinical Genetics 41:322-325.
15. Farrer LA, Grundfast KM, Amos J, Asher JH, Beighton P, Diehl SR, Fex J, Foy C, Friedman TB, Greenberg J, Hoth C, Milunsky A, Morell R, Nance W, Newton V, Ramesar R, Read AP, San Augustin TB, Shavers-Arnos K, Skare J, Stevens CA, Wagner Jr RG, Wilcox ER and Winship I (1992). Waardenburg Syndrome is caused by defects at multiple loci, one of which is between ALPP and FN1 on chromsome 2 - First report of the WS Consortium. American Journal of Human Genetics 50:902-913.
16. Spritz RA, Holmes SA, Ramesar R, Greenberg J, Curtis D, Beighton P. (1992). Mutations of the kit (mast/stem cell growth factor receptor proto-oncogene account for a continuous range of phenotypes in human Piebaldism. American Journal of Human Genetics 51:1058-1065
17. Beighton P, Viljoen D and Ramesar R (1992). Feature Article: Heritable disorders of Connective Tissue. Dysmorphology and Clinical Genetics 6: 88-92
18. Ramesar RS, Babaya M and Viljoen D (1993). Molecular Investigation of Beckwith-Wiedemann Syndrome: A Model for Paternal Imprinting. European Journal of Human Genetics 1:109-113.
19. Viljoen D, Fredlund V, Ramesar R and Beighton P (1993). The brachydactylous dwarfs of Mseleni. American Journal of Medical Genetics 46:636-640
20. Greenberg J, Bartmann L, Ramesar R and Beighton P (1993) Retinitis Pigmentosa in Southern Africa. Clinical Genetics 41:322-325
21. Greenberg J, Ramesar R and Beighton P (1993). Genetic mapping of Retinitis Pigmentosa - The implications for South African patients. A Review. South African Medical Journal 84: 410-412
22. Winship I, Babaya M and Ramesar RS (1993). The gene for X-linked ocular albinism with sensorineural deafness is located at Xq22.3. Genomics 18: 444-445
23. Butt J, Greenberg J, Winship I, Sellars S, Beighton P and Ramesar RS. A splice junction mutation in the PAX3 gene casuses Waardenburg Syndrome in a South African family. Human Molecular Genetics 3: 195-196
24. Greenberg J, Goliath R, Beighton P, Ramesar R. A new locus for autosomal dominant retinitis pigmentosa on thre short arm of chromosome 17. Human Molecular Genetics 3:915-918
25. Ranum LPW, Chung M, Banfi S, Bryer A, Schut LJ, Ramesar R, Duvick LA, McCall A, Subramoney SH, Goldfarb L, Gomez C, Sandkuijl LA, Orr HT and Zoghbi HY. Molecular and clinical correlations in Spinocerebellar ataxia type 1: Evidence for familial effects on the age of onset. American Journal of Human Genetics 55:244-252
26. Rubinsztein DC, Amos W, Leggo J, Goodburn S, Ramesar RS, Old J, Bontrop R, McMahon R, Barton DE, Ferguson-Smith MA (1994). Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nature Genetics 7:525-530
27. Farrer LA, Asher JH, Baldwin CT, Friedman TB, Greenberg J, Grundfast KM, Hoth C, Lalwani AK, Milunsky A, Morell R, Newton V, Ramesar R, Rao VS, San Augustin TB, Wilcox ER, Winship I, and Read AP. Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. American Journal of Human Genetics 55: 728-737
28. Beighton P, Cilliers HJ and Ramesar R (1995). Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint not linked to COL2A1. American Journal of Medical Genetics 53:348-351
29. Beighton P, Viljoen D and Ramesar R (1995). Feature article:: Heritable disorders of the skeleton. Dysmorphology and Clinical Genetics 6:160-164
30. Bardien S, Ebenezer N, Greenberg J, Inglehearn CF, Bartmann L, Goliath R, , Beighton P, Ramesar RS, Bhattacharaya S. (1995) An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. Human Molecular Genetics 8:1459-1462
31. Speer MC, Gilchrist JM, Chutkow JG, McMichael R, Westbrook CA, Stajich JM, Jorgenson EM, Gaskell PC, Rosi BL, Ramesar R, Vance JM, Yamaoka LH, Pericak-Vance MA. (1995) Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy. American Journal of Human Genetics 57: 1371-1376
32. Goliath R, Shugart Y, Janssens P, Weissenbach J, Beighton P, Ramesar R, Greenberg J (1995). Fine localisation of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p. American Journal of Human Genetics 57:962-965
33. * Ramesar R (1996). Inherited cancers. Continuing Medical Education Journal 14 (1): p22
34. *Ramesar R (1996). Inherited eye diseases. Continuing Medical Education Journal 14 (1): p50
35. Hayes VM, Kotze MJ, Grobbelaar JJ, Madden MV, Ramesar R and Oosthuizen CJJ (1996). Presymptomatic diagnosis of familial adenomatous polyposis using intragenic polymorphisms and CA repeats flanking the APC gene. Genetic Counselling 7: 1-7
36. Goliath R, Tombran-Tink J, Chader G, Ramesar R, Greenberg J. Genetic localisation of the gene for pigment epithelium derived factor (PEDF) on the short arm of chromosome 17 (17p13). Molecular Vision: 2:96004
    
37. Gong Y, Vikkula M, Boon L, Liu J, Beighton P, Ramesar R, et al (1996). Osteoporosis-Pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-q13. American Journal of Human Genetics 59:146-151
38. Ballo R, Viljoen D, Machado M, Keene D., Horton W, Fredlund V, Jacobs M, Martell R, Beighton P, Ramesar R. (1996). Mseleni Joint Disease: a molecular genetic approach to defining the aetiology. South African Medical Journal 86:956-958
39. Ramesar RS, Greenberg J, Martin R, Goliath R, Bardien S, Mundlos S, Beighton P (1996). The gene for cleidocranial dysplasia in the historical Cape Town kindred is on chromosome 6. Journal of Medical Genetics 33: 511-514
40. Ballo R, Briggs MD, Cohn DH, Knowlton RG, Beighton PH, Ramesar RS (1997). Multiple epiphyseal dysplasia, Ribbing type: A novel point mutation in the comp gene in a South African family. American Journal of Medical Genetics 68: 396-400
41. Ramesar RS, Bardien S, Beighton P, Bryer A (1997). Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in Souythern African families. Human Genetics 100:131-137
42. Bardien S, Ramesar R, Bhattacharaya S, Greenberg J. (1997). Retinitis pigmentosa locus on 17q(RP17): fine localisation to 17q22 and exclusion of the PDEF and TIMP2 genes. Human Genetics 101:13-17
43. Goliath R, Bardien S, September A, Martin R, Ramesar RS, Greenberg J (1998). Rhodopsin mutation Gly109Arg in a family with autosomal dominant retinitis pigmentosa. Human Mutation: 1:S40-41
44. deStefano AL, Cupples AL, Arnos KS, Asher JH, Baldwin CT, Blanton S, Carey ML, daSilva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabehji M, Wilcox ER, Farrer L. (1998). Correlation between Waardenburg Syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet. 102(5):499-506.
    
45. Ballo R, Beighton, PG, Ramesar RS (1998). Stickler type I syndrome due to a dominant negative mutation in the COL2A1 gene. Accepted for publication, Am J Med Genet. 80:6-11.
46. Greenberg J, Goliath R, Tombran-Tink J, Chader G, Ramesar RS. Growth factors in the retina: pigment epithelium-derived factor (PEDF) now fine mapped to 17p13.3 and tightly linked to the RP13 locus. In: Degenerative Retinal Diseases ed: LaVail et al. Chapter 31: p291-294. Plenum Press, New York, 1997.
47. Horrigan SK, Bartoloni L, Speer M, Fulton N, Kravarusic J, Ramesar R, Vance J, Yamaoka LH, Westbrook C. (1999). A 6 Mb YAC, radiation hybrid breakpoint, and transcript map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of human chromosome 5q31. A Radiation Hybrid Breakpoint Map of the Acute Myeloid Leukemia (AML) and Limb-Girdle Muscular Dystrophy 1A (LGMD1A) Regions of Chromosome 5q31 Localizing 122 Expressed Sequences. Genomics. 57:24-35.
48. Roby P, Eyre S, Worthington J, Ramesar R, Cilliers H, Beighton P, Grant M, Wallis G. (1999). Autosomal dominant Beukes premature degenerative osteoarthropathy of the hip joint maps to an 11cM region on chromosome 4q35.: Am J Hum Genet. 64:904-8
49. Bassi MT, Ramesar RS; Caciotti B, Winship IM; de Grandi I; Riboni M, Townes PL; Beighton P; Ballabio A and Borsani G (1999). X-linked late-onset sensorineural deafness (OASD) due to a deletion involving OA1 and a novel gene containing WD repeats. American Journal of Human Genetics. 64: 1604-161
50. Ramesar RS: Guest Editor of a series of articles that appeared in >Specialist Medicine: title of editorial: Human Genetics, a universal speciality: Specialist Medicine: 21:96-97 (authors who were recruited to write series: Prof A Christianson: Medical Genetics in primary health care B a south African perspective 21:98-100; Prof Trefor Jenkins: Human genetics in South Africa B past present and future: 21:102-107; Greenberg et al: Ophthalmic Genetics: a review of the molecular genetics of familial retinal dystrophies in Southern Africa. 21:108-113)*
51. *Greenberg J, Rebello G, Ramesar RS: Ophthalmic Genetics: a review of the molecular genetics of familial retinal dystrophies in Southern Africa. Specialist Medicine 21:108-113*
52. Goldberg PA, Madden MV, Harocopos C, Felix R, Westbrook C, Ramesar RS. (1998). In a resource-poor country, mutation identification has the potential to reduce the cost of family management for hereditary nonpolyposis colorectal cancer. Dis Colon Rectum 41:1250-3
53. Bardien-Kruger S, Greenberg j, Tubb B, Bryan J, Queimado L, Lovett M, Ramesar R. (1999). Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal facsin. European Journal of Human Genetics (1999) 7: 332-338.
54. Greenberg J, Franz T, Goliath R, Ramesar R. (1999). A photoreceptor gene mutation in an indigenous black African family with retinitis pigmentosa identified using a rapid screening approach for common rhodopsin mutations. South Afrcan Medical Journal 89:877-878
55. Ramesar RS, Madden MV, Felix R, Harocopos CJ, Westbrook CA, Jones G, Cruse JP, Goldberg PA. Molecular Genetics improves the management of Hereditary Nonpolyposis Colorectal Cancer. Accepted for publication Nov 1999 S Afr Med J.
56. Goldberg PA, Grobellar JJ, Kotze MJ, Harocopos C, Marx MP, de Jong G, Madden MV, Ramesar RS. Guidelines for management of hereditary colorectal cancer. Accepted for publication, Nov 1999, to S Afr Med
57. Cai L, Struk S, Adams MD, Ji W, Haaf T, Kang H-L, Dho S-H, Xuequn Xu, Ringpfeil F, Nancarrow J, Zach S, Schaen L, Stumm M, Niu T, Chung J, Lunze K, Verrecchia B, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Lebwohl M, Uitto J, Richards R, Hohl D, Ramesar R, Callen DF, Kim U-J, Doggett NA, Neldner KH, Lindpaintner K. A 500 Kb Region on chromosome 16p13.1 Contains the Pseudoxanthoma Elasticum Locus: High Resolution Mapping and Genome Structure, Accepted for publication, Jan 2000, Journal of Mol. Med
58. Weston MD, Eudy JD, Fujita S, Yao S-F, Usami S, Cremers C, Greenburg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J , Kimberling WJ. (2000). Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type Iia. American Journal of Human Genetics 66:1199
59. Struk B, Cai L, Zäch S, Ji W, Chung J, Lumsden A, Stumm M, Schaen L, Kim C-A, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Ramesar R, Hohl D, Richards R, Neldner KH, and Lindpaintner K. Mutations of the Gene Encoding the Transmembrane Transporter Protein, ABC-C6, Cause Pseudoxanthoma Elasticum. Accepted for publication. J Mol Med May 2000
60. Savitz JB, Ramesar R.2003
    Genetic Variants Implicated in Personality: A Review of the More Promising candidates.Am J Med Genet B Neuropsychiatr Genet 15;131(1):20 -32 2004
61. Gaonyadiwe G. Mokone, *BSc(Med)(Hons), Mamta Gajjar,++Bsc, Alison V.
    September, Phd Martin P.Schwellnus,* MBChB, M, Jacquie Greenberg, Phd
    Timothy D. Noakes,* MBChB, MD, DSc(Med), and Malcolm Collins, PhD
    From the * The Guanine-Thymine Dinucleotide Repeat Polymorphism Within the
    Tenascin- C Gene Is Associated With Achillies Tendon Injuries: The AmericanJournal of Sports Medicine, Vol .33, no 7
62. Savitz J,  Solms M, Ramesar R
    The molecular genetics of cognition: dopamine, COMT and BDNFGenes, Brain Behaviour (2005)
63. De Decker R,
    Congenital heart disease in Genetic context: broadening the cardiologist’s horizonsS A Heart  (2005)
64. Miksch, Lumsden A, Guenther Ulf P, Foernzler D,
    Christen-Zach S,  Daugherty C  Ramesar R, Lebwohl, M lHohl D,
    Neldner K, Lindpainter K,  Richards R, and Struk B
    Molecular Genetics of  Pseudoxanthoma Elasticum:Type and Frequency of Mutationin ABCC6. Human Mutation 26(3), 235-248,2005
65. Savitz J, MSc,* Solms M, PhD, Pietersen E, MSocSci,*Ramesar R, PhD,* and Flor-Henry P, MD; Dissociative Identity Disorder Associated with Mania and Change in Handedness:Cog Behav Neurol.2004Dec; 17(4)
66. Savitz J, Solms M, Ramesar R. Neuropsychological dysfunction in bipolar affective disorder: a critical opinion.Bipolar Disord 2005: 7: 216-235.
67. Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Megarbane A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.Nat Genet. 2005 Mar;37(3):221-3
68. Savitz JB, Solms M and Ramesar RS.Neurocognitive Function as an Endophenotype For Genetic Studies of Bipolar Affective Disorder. Neuromolec Med.2005 May;7
69. Savitz J, Solms M PhD, Ramesar R S PhD
    Apolipoprotein E Variants and Cognition in Healthy Individuals: A CriticalOpinion  Brain Res Rev.2006 Jun;51(1):125-35Epub 2005Dec
70. Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling W.J (2002) CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. American Journal of Human Genetics 71(12):262-75.
71. Greenberg J, Roberts L, Ramesar R,.(2003) A rare homozygous rhodopsin splice-slite mutation: the issue of when and whether to offer presymptomatic testing.
72. Opthalmic Genetics 24(4):225-32
73. Breyer A, Krause A, Bill P, Davids V, Bryant D, Butler J, Heckmann J, Ramesar R, Greenberg J, (2003) The hereditary adult onset ataxias in South Africa. Journal of Neurological Sciences 216(1):47-54
74. Savitz JB, Ramesar R (2005). Review: The genetics of personality: An update. American Journal of Medical Genetic
75. Goldberg P, Hameed F, Hall P, Algar U, Van Wijk R, Ramesar R:
    Immunohistochemistry detects mismatch repair gene defects in colorectal cancer. In Press (accepted for publication July 2005): Colorectal Diseases Manuscript ref. CDI-00151-2006June.R1,8(5):4 11-7
76. Rebecca Felix, Walter Bodmer, Nicola S. Fearnhead, Lize van der Merwe,
    Rajkumar S. Ramesar*. GSTM1 and GSTT1 polymorphisms as modifiers of age at diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) in a homogeneous cohort of individualscarrying a single predisposing mutation. Mutation Research. Vol 602/1-2 pp 175 - 181
77. Anderson DW, Goldberg PA, Felix R, Algar U, Ramesar RS. Colonoscopic
    Surveillance In hereditary Non-Polyposis Colorectal Carcinoma Families. SubmittedTo Colorectal Diseases (November 2005)
78. Savitz J, Cupido CL, Ramesar R Trends in Suicidology: Personality as an Endophenotype for Molecular Genetic Investigations Accepted for publication in public Library of Science Medicine (May2006)(3)0001-0005
79. Roberts L, Bartmann L, Ramesar R, Greenberg J. (2005) Novel variants in the
    hotspot region of Rp1 in South African patients with retinitis pigmentosa. Acceptedfor publication in Mol Vis.2006 Mar 15;12:177-83
80. Greenberg J, Solomon GAE, Vorster AA,  Heckmann J,  Bryer A
    Origin of the SCA7 gene mutation in South Africa: Implications for molecular diagnosticsClin Genet 2006: 70: 415-417
81. Savitz J, van der Merwe L, Solms M, Ramesar R R. A Linkage and Family-Based  Association Analysis of a Potential Neurocognitive  Endophenotype of Bipolar Disorder.  NeuroMol Med Neuromolecular Med. 2007;9(2):101-16.
82. Savitz JB, Ramesar RS Personality: is it a viable endophenotype for genetic studies of bipolar affectivedisorder? Bipolar Disord. 2006 Aug;8(4):322-37.]
83. Savitz J, Cupido C, Ramesar RPreliminary Evidence for Linkage to Chromosome 1q31-32, 10q23.3 and 16p13. in a South African Cohort with Bipolar Disorder.”Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 5;144(3):383-7
84. Savitz J, van der Merwe, L, Stein D, Solms M, Ramesar R.
    Genotype and Childhood Sexual Trauma Moderate Neurocognitive Performance:  A possible role forBDNF and Apo E variants. Biol Psychiatry. 2007 Sep 1;62(5):391-9. Epub 2007 Jan 8
85. Savitz J, Van der Merwe L, Solms M, Ramesar R (2007)
    Neurocognitive function in an extendedAfrikanerancestry family with affective illness, JpsychiatryNeurosci 2007;32(2):116-20
86. Savitz J, van der Merwe L,  Solms M, Ramesar R, Lateralization of hand skill in bipolar affective disorder. Genes Brain Behav. 2007 Oct;6(8):698-705. Epub 2007 Feb 16
87. Stein DJ, Newman TK, Savitz J, Ramesar R Warriors versus worriers: the role of COMT gene variants. CNS Spectr.2006 Oct;11 (10):745-8.
88. Stein DJ, Daniels W, Emsley R, Harvey B, Blackburn J, Carey P, Ellis G, Illing N, Flisher A, MoolmanSmook H, Mwaba K, Ramesar R, Russel V, Seedat S, Tredoux C, Vaughan CL, Vythilingum B, Warwick J; A brain-behaviour initiative for South Africa: the time is right. Metab BrainDis.2006 Sep:21(2-3):279-84.
89. Matolweni LO, Bardien S, Rebello G, Oppon E, Munclinger M, Ramesar   R,Watkins H, Mayosi BM; Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidates genes. BMC Med Genet.2006Mar 28;7:29
90. Madden M, Goldberg P, Geddes C and Van der Merwe L
    Double-blind randomised trial comparing 5-fluorouracil plus leucovorin to placebo for metastatic colorectalcarcinoma, Colorectal disease 7,507-512
91. Scholefield J, Greenberg LJ; A common SNP haplotype provides molecular proof of a Founder effect of Huntington disease linking two South African populations; European JournalOf Human Genetics EJHG (2007) 15, 590-595
92. Blokhuis M, Goldberg P, Pietersen G,  Algarb U, Vorster A, Govender D, Ramesar  R  The Extracolonic Cancer Spectrum In Females With the Common   'South African'hMLH1 gC1528T Mutation. Accepted for publication in  Familial Cancer.
93. Savitz J, Solms M,  Stein D,  van der  Merwe L, Ramesar R (2007)  Neuropsychological Task Performance in Bipolar Spectrum Illness: Genetics, Alcohol Abuse, Medication and Childhood Trauma. Accepted for  publication in Bipolar Disorders
94. Savitz J, van der Merwe L, Newman T K, Solms M, Stein D J, Ramesar R S. "The Relationship Between Childhood Abuse and Dissociation.
    Is it influenced by catechol-o-methyltransferase (COMT) activity?Int J Neuropsychopharmacol. 2007 Jul 3;:1-13 [Epub ahead of print]
95. Basson F, Futter MJ, Greenberg J Qualitative Research Methodology in the Exploration of Patient’s Perceptions of  Participating in a Genetic Research program, Ophthalmic Genetics, 28:143-149, 2007
96. Bardien S, Abrahams F, Soodyall H, Van der Merwe L, Greenberg J, Brink T,
    Carr J. A South African Mixed Ancestery Family with Huntington Disease-Like   2: Clinical and Genetic Features Movement Disorder 22(14) pp.2083-2089, 2007
97. Urban MF, Cherish MF. Dandy-Walker variant in an infant prenatally exposed to antiretroviral medication SAMJ (97)10;2007
98. Savitz J, van der Merwe L, Ramesar R
    Hypomanic, cyclothymic and hostile personality traits in bipolar spectrum illness: A family-based study.J Psychiatr Res. 2007 Dec 12;  
    Hypomanic, cyclothymic and hostile personality traits in bipolar spectrum illness: A family-based study. J Psychiatr Res. 2007 Dec 12. [Epub ahead of print]PMID: 18082182 [PubMed - as supplied by publisher]
99. Savitz J, van der Merwe L, Ramesar R. Dysthymic and anxiety-related personality traits in bipolar spectrum illness. J Affect Disord. 2008 Jan 11. [Epub ahead of print]PMID: 18192025 [PubMed - as supplied by publisher]
100. Pietersen EG, Kruger B, Ulgar A, Ramesar RS An Analysis of Factors Contributing towards Compliance / Non-Compliance With Surveillance in Hereditary Nonpolyposis Colorectal Cancer Mutation Positive Individuals. Chapter in Hereditary Colorectal Cancers, eds: M.Rodrigues-Bigas, R Cutait, H Lynch, H vasen and Tomlinson, publishers: Springer U.S.
101. Du Preez J, Matolweni LO, Greenberg J, Mntla P, Adeyemo AA, Mayosi BM The Q2C Del322-325 adrenergic receptor polymorphism is not associated with heart failure due to idiopathic dilated cardiomyopathy in black Africans
     Cardiovascular Journal of Africa Vol 19,No.1, January/February 2008
102. Tiffin N, Okpechi I, Perez-Iratxeta C, Andrade-Navarro M A, Ramesar R. (2008). Prioritisation of candidate disease genes for metabolic syndrome by computational analysis of its defining phenotypes. Revised and resubmitted (PG-90247-2008). Physiological Genomics June 2008.  [Epub ahead of print]
     PMID: 18612082 [PubMed - as supplied by publisher
103. Ivings L, Towns K V, Matin M A, Taylor C, Ponchel F, Grainger R J, Ramesar R S, Mackey D A, Inglehearn C F. (2008). Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor Retinitis Pigmentosa. Submitted Molecular Vision June 2008
104. Hardy B-J, Séguin B, Ramesar R S, Singer P A, Daar A S.  (2008).  South Africa: from species cradle to genomic applications. Submitted to Nature Reviews: Genetics June 2008
105. Futter M, Heckmann J, Greenberg L.Predictive testing for Huntington disease in a developing country. Clin Genet. 2008 Jun 18. [Epub ahead of print]
106. Savitz JB, van der Merwe L, Stein DJ, Solms M, Ramesar RS.
     Neuropsychological task performance in bipolar spectrum illness: genetics, alcohol abuse, medication and childhood trauma. Bipolar Disord. 2008 Jun;10(4):479-94.PMID: 18452444 [PubMed - indexed for MEDLINE]
107. Sirugo G, Hennig BJ, Adeyemo AA, Matimba A, Newport MJ, Ibrahim ME, Ryckman KK, Tacconelli A, Mariani-Costantini R, Novelli G, Soodyall H, Rotimi CN, Ramesar RS, Tishkoff SA, Williams SM. Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics. Hum Genet. 2008 Jul;123(6):557-98. Epub 2008 May 30. Review.PMID: 18512079 [PubMed - indexed for MEDLINE]
108. Rebello G, Greenberg J, Ramesar R. (2007). Carbonic Anhydrase Inhibitors as a Possible Therapy for RP17, an Autosomal Dominant Retinitis Pigmentosa Associated With the R14W Mutation, Apoptosis, and the Unfolded Protein Response p4-24. Published in: Ophthalmology Research, Retinal Degenerations: Biology, Diagnostics, and Therapeutics. Editors: J Tombran Tink and CJ Barnstable. (ISBN 978-1-58829-620-7)
109. Ibirogba SB, Algar A, Duffield M, Ramesar R, Goldberg PA. (2008). The clinical and pathological features of a South African family with hereditary mixed polyposis syndrome. Report of a family. South African Journal of Surgery, August edition