Search filters

List of works by Rajkumar Ramesar

A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure

article

A Founder Mutation in MYO7A Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora.

scientific article

A brain-behaviour initiative for South Africa: the time is right

scientific article

A case-control study of risk factors for colorectal cancer in an African population.

scientific article published on 11 April 2018

A computer-based register for inherited retinal dystrophies in Southern Africa

scientific article published in March 2002

A genomic portrait of haplotype diversity and signatures of selection in indigenous southern African populations

scientific article

A linkage and family-based association analysis of a potential neurocognitive endophenotype of bipolar disorder

scientific article published in January 2007

A linkage and family-based association analysis of a potential neurocognitive endophenotype of bipolar disorder

scholarly article by Jonathan Savitz et al published June 2007 in NeuroMolecular Medicine

A mobile colonoscopic unit for lynch syndrome: trends in surveillance uptake and patient experiences of screening in a developing country.

scientific article

A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing.

scientific article

A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis

scientific article published on 22 July 2005

A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum

scientific article

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

scientific article (publication date: April 1999)

A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing.

scientific article

A review of systems biology research of anxiety disorders

scientific article published on 07 October 2020

A review of the optimisation of the use of formalin fixed paraffin embedded tissue for molecular analysis in a forensic post-mortem setting

scientific article published on 13 October 2017

Advancing public health genomics in Africa through prospective cohort studies

scientific article published in July 2010

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q ⬇️

scientific article published on August 1, 1995

Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications.

scientific article published in August 2003

Apolipoprotein E variants and cognition in healthy individuals: a critical opinion

scientific article

Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.

scientific article

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

scientific article

Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?

scientific article published in January 2004

Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes

scientific article published on 28 March 2006

Association between solar insolation and a history of suicide attempts in bipolar I disorder

scientific article published on 08 March 2019

Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon

scientific article

Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35.

scientific article published in March 1999

Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1

Beyond the Caster Semenya controversy: the case of the use of genetics for gender testing in sport

scientific article published on 8 September 2010

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

scientific article

Cancer occurrence during follow-up of the CAPP2 study -aspirin use for up to four years significantly reduces Lynch syndrome cancers for up to several years after completion of therapy.

scientific article published on 25 May 2010

Cancer risk in a cohort of subjects carrying a single mismatch repair gene mutation

article

Capacity-building in human genetics for developing countries: initiatives and perspectives in sub-Saharan Africa

scientific article published on 23 March 2010

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

scientific article

Catechol-o-methyltransferase genotype and childhood trauma may interact to impact schizotypal personality traits

scientific article

Cell-specific differences in the processing of the R14W CAIV mutant associated with retinitis pigmentosa 17.

scientific article published on October 2010

Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip.

scientific article

Coinheritance of sickle cell anemia and α-thalassemia delays disease onset and could improve survival in Cameroonian's patients (Sub-Saharan Africa).

scientific article published on 10 April 2014

Communicating cancer risk within an African context: experiences, disclosure patterns and uptake rates following genetic testing for Lynch syndrome

scientific article published on 28 February 2013

Computational analysis of candidate disease genes and variants for salt-sensitive hypertension in indigenous Southern Africans

scientific article

Concordance Of Genetic Variation That Increases Risk For Tourette Syndrome And That Influences Its Underlying Neurocircuitry

Concordance of genetic variation that increases risk for anxiety disorders and posttraumatic stress disorders and that influences their underlying neurocircuitry

scientific article published on 13 November 2018

Concordance of genetic variation that increases risk for tourette syndrome and that influences its underlying neurocircuitry

scientific article published on 22 March 2019

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

scientific article published in May 1998

DNA variants and organophosphate neurotoxicity among emerging farmers in the Western Cape of South Africa.

scientific article published on 16 November 2017

Detecting Genetics Modifiers of Spondyloepimetaphyseal Dysplasia with Joint Laxity (SEMDJL) in the Caucasian Afrikaner community

article

Determining ancestry proportions in complex admixture scenarios in South Africa using a novel proxy ancestry selection method

scientific article

Dietary patterns and colorectal cancer risk in Zimbabwe: A population based case-control study

scientific article published on 01 October 2018

Digitotalar dysmorphism: Molecular elucidation.

scientific article published on 02 February 2016

Direct-to-consumer genetic testing: to test or not to test, that is the question

scientific article

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

scientific article (publication date: 2001)

Dravet syndrome in South African infants: Tools for an early diagnosis

scientific article published on 14 September 2018

Dysthymic and anxiety-related personality traits in bipolar spectrum illness

Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome

scientific article

Erratum: South Africa: from species cradle to genomic applications

article

Ethical considerations in forensic genetics research on tissue samples collected post-mortem in Cape Town, South Africa.

scientific article published on 29 November 2017

Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South african families

scientific article published in July 1997

Exploring researchers' experiences of working with a researcher-driven, population-specific community advisory board in a South African schizophrenia genomics study

scientific article published on 2 July 2015

Fertility and apparent genetic anticipation in Lynch syndrome

scientific article

G-protein-coupled receptor kinase 4 polymorphisms predict blood pressure response to dietary modification in Black patients with mild-to-moderate hypertension

scientific article

GENETICS. The Human Variome Project

scientific article

GSTM1 and GSTT1 polymorphisms as modifiers of age at diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) in a homogeneous cohort of individuals carrying a single predisposing mutation

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

scientific article

Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics

scientific article published on 30 May 2008

Genetic variants implicated in personality: a review of the more promising candidates

scientific article published in November 2004

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.

scientific article

Genetic variation in Otos is associated with cisplatin-induced ototoxicity

scientific article published on September 2014

Genetic variation within GRIN2B in adolescents with alcohol use disorder may be associated with larger left posterior cingulate cortex volume.

scientific article published on 8 August 2016

Genetics of schizophrenia in the South African Xhosa

scientific article published on 31 January 2020

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

scientific article

Genomics: African dawn

scientific article

Genotype and childhood sexual trauma moderate neurocognitive performance: a possible role for brain-derived neurotrophic factor and apolipoprotein E variants

scientific article published on 8 January 2007

Glutamatergic and HPA-axis pathway genes in bipolar disorder comorbid with alcohol- and substance use disorders.

scientific article published on 12 November 2015

Haplotype-based study of the association of alcohol and acetaldehyde-metabolising genes with alcohol dependence (with or without comorbid anxiety symptoms) in a Cape Mixed Ancestry population

scientific article

High prevalence of cisplatin-induced ototoxicity in Cape Town, South Africa

article

How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

scientific article

Human Leukocyte Antigen (HLA) Class II -DRB1 and -DQB1 Alleles and the Association with Cervical Cancer in HIV/HPV Co-Infected Women in South Africa

scientific article published on 20 May 2019

Human Variome Project country nodes: documenting genetic information within a country

scientific article published on 18 July 2012

Hypomanic, cyclothymic and hostile personality traits in bipolar spectrum illness: a family-based study

scientific article published on 21 December 2007

Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.

scientific article published in July 2015

Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort

scientific article published on 4 May 2011

Immunohistochemistry detects mismatch repair gene defects in colorectal cancer

article

In a resource-poor country, mutation identification has the potential to reduce the cost of family management for hereditary nonpolyposis colorectal cancer

scientific article published on 01 October 1998

Influence of birth cohort on age of onset cluster analysis in bipolar I disorder.

scientific article published on 12 December 2014

Influence of light exposure during early life on the age of onset of bipolar disorder

scientific article published on 27 March 2015

Infrequent and low expression of cancer-testis antigens located on the X chromosome in colorectal cancer: implications for immunotherapy in South African populations

scientific article published in November 2008

Inherited retinal disorders in South Africa and the clinical impact of evolving technologies.

scientific article published on 25 May 2016

Lateralization of hand skill in bipolar affective disorder.

scientific article published on 16 February 2007

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

scientific article published on 27 October 2011

Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

article

Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa

scientific article published on 01 July 2000

Lynch syndrome: the influence of environmental factors on extracolonic cancer risk in hMLH1 c.C1528T mutation carriers and their mutation-negative sisters.

scientific article

Management of a South African family with retinitis pigmentosa-should potential therapy influence translational research protocols?

scientific article published on March 2008

Minimum information required for a DMET experiment reporting

scientific article published on 22 August 2016

Mismatch repair deficiency in colorectal cancer patients in a low-incidence area

scientific article published on 14 February 2013

Mobile colonoscopic surveillance provides quality care for hereditary nonpolyposis colorectal carcinoma families in South Africa

scientific article published in July 2007

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing

scientific article

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

scientific article published in September 2005

Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family

scientific article

Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease

scientific article published in June 2004

Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.

scientific article published in August 1994

Neurocognitive function as an endophenotype for genetic studies of bipolar affective disorder

scientific article

Neuropsychological dysfunction in bipolar affective disorder: a critical opinion

scientific article

Neuropsychological status of bipolar I disorder: impact of psychosis

scientific article published in March 2009

Neuropsychological task performance in bipolar spectrum illness: genetics, alcohol abuse, medication and childhood trauma

scientific article published in June 2008

New-onset diabetes after transplant: Incidence, risk factors and outcome.

scientific article published on 25 August 2017

No evidence of genetic anticipation in a large family with Lynch syndrome

scientific article published in March 2014

Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease

scientific article

Nucleotide sequence and expression of a cloned Thiobacillus ferrooxidans recA gene in Escherichia coli

scientific article published in May 1989

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study

scientific article published on 17 August 2015

Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10.

scientific article published on 25 April 2017

PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients

scientific article

Personality endophenotypes for bipolar affective disorder: a family-based genetic association analysis

scientific article published on 24 September 2008

Personality: is it a viable endophenotype for genetic studies of bipolar affective disorder?

scientific article published on August 2006

Planning the human variome project: the Spain report.

scientific article published in April 2009

Polygenic risk for schizophrenia and associated brain structural changes: A systematic review

scientific article published on 29 November 2018

Possible involvement of the circadian pathway in alcohol use disorder in a South African adolescent cohort.

scientific article

Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome

scientific article published on 15 October 2013

Preliminary evidence for linkage to chromosome 1q31-32, 10q23.3, and 16p13.3 in a South African cohort with bipolar disorder

scientific article published in April 2007

Prioritization of candidate disease genes for metabolic syndrome by computational analysis of its defining phenotypes

scientific article published on 8 July 2008

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

scientific article published in May 2010

Promoter region variation in NFE2L2 influences susceptibility to ototoxicity in patients exposed to high cumulative doses of cisplatin.

scientific article published on 26 July 2016

Psychosocial burden of sickle cell disease on parents with an affected child in Cameroon

scientific article published on 24 July 2013

Psychosocial stressors of sickle cell disease on adult patients in Cameroon

scientific article published on 21 February 2014

Ready to put metadata on the post-2015 development agenda? Linking data publications to responsible innovation and science diplomacy

scientific article published in January 2014

Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection

scientific article

Recommendations of the 2006 Human Variome Project meeting

scientific article published in April 2007

Reconstructing Prehistoric African Population Structure

scientific article published on September 2017

Relationship between sunlight and the age of onset of bipolar disorder: an international multisite study

scientific article

Report on the 6th African Society of Human Genetics (AfSHG) Meeting, March 12-15, 2009, Yaounde, Cameroon

scientific article (publication date: August 2010)

Research capacity. Enabling the genomic revolution in Africa

scientific article published in June 2014

Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes

scientific article

Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa ⬇️

scientific article published on January 1, 1998

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies NovelLCA5Mutations and New Genotype-Phenotype Correlations

Significant concordance of genetic variation that increases both the risk for obsessive-compulsive disorder and the volumes of the nucleus accumbens and putamen

scientific article published on 01 July 2018

South Africa: from species cradle to genomic applications

article

Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families

scientific article published on 22 May 2014

Spondyloepiphyseal dysplasia in a Cape Town family: linkage with the gene for type II collagen (COL2A1).

scientific article published in July 1992

Stargardt disease: towards developing a model to predict phenotype.

scientific article published on 22 May 2013

Stargardt disease: towards developing a model to predict phenotype.

scientific article published on 19 September 2013

Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene

scientific article

Surgery for colonic cancer in HNPCC: total vs segmental colectomy

scientific article published in December 2011

Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation

scientific article published in February 2009

The BDNF p.Val66Met polymorphism, childhood trauma, and brain volumes in adolescents with alcohol abuse

scientific article

The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival

scientific article

The extracolonic cancer spectrum in females with the common 'South African' hMLH1 c.C1528T mutation

scientific article published on 30 November 2007

The hereditary adult-onset ataxias in South Africa

scientific article published in December 2003

The importance of G protein-coupled receptor kinase 4 (GRK4) in pathogenesis of salt sensitivity, salt sensitive hypertension and response to antihypertensive treatment ⬇️

scientific article

The incidence and histo-pathological characteristics of colorectal cancer in a population based cancer registry in Zimbabwe.

scientific article published on 16 August 2016

The relationship between childhood abuse and dissociation. Is it influenced by catechol-O-methyltransferase (COMT) activity?

scientific article

The shifting epidemiology of colorectal cancer in sub-Saharan Africa

scientific article published on 18 March 2017

The value of genetic testing for inherited retinal disease caused by mutations in the ABCA4 gene in South Africans.

scientific article published in October 2013

Toward a Global Roadmap for Precision Medicine in Psychiatry: Challenges and Opportunities.

scientific article published on 16 September 2016

Toward colorectal cancer control in Africa

scientific article

Trends in suicidology: personality as an endophenotype for molecular genetic investigations

scientific article

UCT’s contribution to medical genetics in Africa - from the past into the future ⬇️

scientific article published on 02 March 2012

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

scientific article

Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans.

scientific article published on 12 December 2017

Would you terminate a pregnancy affected by sickle cell disease? Analysis of views of patients in Cameroon

scientific article

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

scientific article

Paulina is supported by:

About Paulina

Help