Michèle Ramsay

Q: What Schools Are Affiliated With Michèle Ramsay

Michèle Ramsay is affiliated with the following schools: University of Cape Town, University of the Witwatersrand

Michèle Ramsay's AcademicInfluence.com Rankings

Michèle Ramsay

Biology

#6210

World Rank

#8877

Historical Rank

Genetics

#842

World Rank

#935

Historical Rank

biology Degrees

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Biology

Michèle Ramsay's Degrees

PhD Human Genetics University of Cape Town
Masters Genetics University of Cape Town
Bachelors Genetics University of Cape Town

Why Is Michèle Ramsay Influential?

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According to Wikipedia, Michèle Ramsay is a South African Professor of human genetics at the National Health Laboratory Service and the University of the Witwatersrand. Ramsay's research has investigated single-gene disorders, epigenetics, obesity and hypertension. She was the President of the African Society of Human Genetics from 2014 until 2019.

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Michèle Ramsay's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

The African Genome Variation Project shapes medical genetics in Africa (2014) (460)
Runs of homozygosity: windows into population history and trait architecture (2018) (346)
Enabling the genomic revolution in Africa (2014) (327)
High polymorphism at the human melanocortin 1 receptor locus. (1999) (279)
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). (2002) (275)
APOL1 Risk Variants Are Strongly Associated with HIV-Associated Nephropathy in Black South Africans. (2015) (245)
Effect of alcohol consumption on CpG methylation in the differentially methylated regions of H19 and IG-DMR in male gametes: implications for fetal alcohol spectrum disorders. (2009) (223)
Larger genetic differences within africans than between Africans and Eurasians. (2002) (188)
Human pigmentation genetics: the difference is only skin deep (1998) (188)
Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum (2007) (178)
Exposure of Mouse Embryos to Ethanol During Preimplantation Development: Effect on DNA Methylation in the H19 Imprinting Control Region1 (2009) (162)
Worldwide DNA sequence variation in a 10-kilobase noncoding region on human chromosome 22. (2000) (154)
High-depth African genomes inform human migration and health (2020) (136)
The power of genetic diversity in genome-wide association studies of lipids (2021) (129)
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. (1997) (126)
Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1. (2001) (123)
The molecular genetic epidemiology of cystic fibrosis: Report of a joint meeting of WHO/ECFTN/ICF(M)A/ECFS (2004) (117)
In Utero Alcohol Exposure, Epigenetic Changes, and Their Consequences (2013) (109)
Regional and Sex Differences in the Prevalence and Awareness of Hypertension: An H3Africa AWI-Gen Study Across 6 Sites in Sub-Saharan Africa. (2017) (105)
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries (2021) (105)
Alcohol dehydrogenase-2*2 allele is associated with decreased prevalence of fetal alcohol syndrome in the mixed-ancestry population of the Western Cape Province, South Africa. (2001) (105)
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci (2017) (103)
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. (1992) (103)
Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population (2010) (98)
The Effect of Preconception Paternal Alcohol Exposure on Epigenetic Remodeling of the H19 and Rasgrf1 Imprinting Control Regions in Mouse Offspring (2012) (95)
Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa (2004) (89)
H3Africa: current perspectives (2018) (85)
Genetic and epigenetic insights into fetal alcohol spectrum disorders (2010) (85)
H3Africa AWI-Gen Collaborative Centre: a resource to study the interplay between genomic and environmental risk factors for cardiometabolic diseases in four sub-Saharan African countries (2016) (84)
Cystic fibrosis carrier frequencies in populations of African origin (1999) (81)
The H3Africa policy framework: negotiating fairness in genomics (2015) (79)
Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans (2017) (77)
Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus. (2015) (71)
Phylogeography of mitochondrial DNA variation in brown bears and polar bears. (2000) (68)
Ethical issues in genomic research on the African continent: experiences and challenges to ethics review committees (2014) (66)
Assessing runs of Homozygosity: a comparison of SNP Array and whole genome sequence low coverage data (2017) (65)
Genetic diversity in black South Africans from Soweto (2013) (64)
Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation (1997) (63)
Genetic variants in CYP (-1A2, -2C9, -2C19, -3A4 and -3A5), VKORC1 and ABCB1 genes in a black South African population: a window into diversity. (2011) (61)
DNA Polymorphism and Selection at the Melanocortin‐1 Receptor Gene in Normally Pigmented Southern African Individuals (2003) (61)
Genomic and environmental risk factors for cardiometabolic diseases in Africa: methods used for Phase 1 of the AWI-Gen population cross-sectional study (2018) (61)
Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats. (1994) (60)
XX true hermaphroditism in southern African blacks: an enigma of primary sexual differentiation. (1988) (57)
Human DNA sequence variation in a 6.6-kb region containing the melanocortin 1 receptor promoter. (2001) (57)
Understanding the rise in cardiovascular diseases in Africa: harmonising H3Africa genomic epidemiological teams and tools (2014) (54)
First report of CFTR mutations in black cystic fibrosis patients of southern African origin. (1996) (51)
An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. (1995) (51)
African genetic diversity and adaptation inform a precision medicine agenda (2021) (49)
Kidney damage and associated risk factors in rural and urban sub-Saharan Africa (AWI-Gen): a cross-sectional population study (2019) (45)
Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population. (2011) (44)
Computational selection and prioritization of candidate genes for Fetal Alcohol Syndrome (2007) (43)
Population-specific common SNPs reflect demographic histories and highlight regions of genomic plasticity with functional relevance (2014) (41)
Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in South African Afrikaans-speakers. (1997) (40)
Africa: Continent of genome contrasts with implications for biomedical research and health (2012) (39)
Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations. (1998) (39)
Identification of P gene mutations in individuals with oculocutaneous albinism in sub‐Saharan Africa (2000) (39)
The molecular basis of cystic fibrosis in South Africa (2001) (39)
The Genetics of POAG in Black South Africans: A Candidate Gene Association Study (2015) (39)
Reduced DNA methylation at the PEG3 DMR and KvDMR1 loci in children exposed to alcohol in utero: a South African Fetal Alcohol Syndrome cohort study (2015) (38)
Appetite regulation genes are associated with body mass index in black South African adolescents: a genetic association study (2012) (38)
Tele-ophthalmology: Opportunities for improving diabetes eye care in resource- and specialist-limited Sub-Saharan African countries (2016) (37)
Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry. (2019) (37)
Globin gene-associated restriction-fragment-length polymorphisms in southern African peoples. (1987) (36)
African partnerships through the H3Africa Consortium bring a genomic dimension to longitudinal population studies on the continent. (2016) (36)
PCR detection of the pKM.19/ScrfI RFLP (D7S23), a marker closely linked to the cystic fibrosis mutation. (1990) (34)
Genetic substructure and complex demographic history of South African Bantu speakers (2020) (34)
Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation. (1989) (32)
African origins and chronic kidney disease susceptibility in the human immunodeficiency virus era. (2015) (31)
Africa: the next frontier for human disease gene discovery? (2011) (30)
African genetic diversity provides novel insights into evolutionary history and local adaptations. (2018) (30)
Regional and sex-specific variation in BMI distribution in four sub-Saharan African countries: The H3Africa AWI-Gen study (2018) (30)
Founder effect and prevalence of myotonic dystrophy in South Africans: molecular studies. (1996) (30)
In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. (2001) (29)
Faculty Opinions recommendation of Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. (2006) (29)
Differential gene expression of MMP-1, TIMP-1 and HGF in clinically involved and uninvolved skin in South Africans with SSc. (2012) (29)
Regional Patterns and Association Between Obesity and Hypertension in Africa (2020) (28)
New founder haplotypes at the myotonic dystrophy locus in southern Africa. (1995) (27)
Population Stratification and Underrepresentation of Indian Subcontinent Genetic Diversity in the 1000 Genomes Project Dataset (2016) (27)
Ethnicity and myotonic dystrophy: a possible explanation for its absence in sub‐Saharan Africa (1996) (25)
Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa. (2013) (25)
Haplotype analysis to determine the position of a mutation among closely linked DNA markers. (1993) (25)
Maternal origin of extra haploid set of chromosomes in third trimester triploid fetuses. (1995) (24)
The Next Generation Scientist program: capacity-building for future scientific leaders in low- and middle-income countries (2018) (24)
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. (2017) (24)
Four novel variants in MC1R in red‐haired South African individuals of European descent: S83P, Y152X, A171D, P256S (2002) (24)
The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids. (1994) (23)
Alpha-globin gene cluster haplotypes in the Kalahari San and southern African Bantu-speaking blacks. (1988) (23)
The burden of dyslipidaemia and factors associated with lipid levels among adults in rural northern Ghana: An AWI-Gen sub-study (2018) (23)
Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759 (2002) (22)
Demographic, socio-economic and behavioural correlates of BMI in middle-aged black men and women from urban Johannesburg, South Africa (2018) (22)
A unique dicentric X;Y translocation with Xq and Yp breakpoints: cytogenetic and molecular studies. (1987) (22)
Molecular diagnosis of cystic fibrosis in South African populations. (2003) (21)
Myocilin mutations in black South Africans with POAG (2011) (21)
Yeast artificial chromosome cloning (1994) (20)
Genetic variants in SEC16B are associated with body composition in black South Africans (2018) (20)
Immunochip Identifies Novel, and Replicates Known, Genetic Risk Loci for Rheumatoid Arthritis in Black South Africans (2014) (19)
Classical Cardiovascular Risk Factors and HIV are Associated With Carotid Intima‐Media Thickness in Adults From Sub‐Saharan Africa: Findings From H3Africa AWI‐Gen Study (2019) (18)
H 3 Africa AWI-Gen Collaborative Centre : a resource to study the interplay between genomic and environmental risk factors for cardiometabolic diseases in four sub-Saharan African countries (2016) (18)
XX true hermaphroditism in southern African blacks: exclusion of SRY sequences and uniparental disomy of the X chromosome. (1995) (18)
Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family (2018) (17)
A new polymorphic locus, D7S411, isolated by cloning from preparative pulse-field gels is close to the mutation causing cystic fibrosis. (1990) (17)
Chimerism in Black Southern African Patients with True Hermaphroditism 46,XX/47XY,+21 and 46,XX/46,XY (2009) (17)
Interleukin-1 receptor antagonist gene polymorphisms are associated with disease severity in Black South Africans with rheumatoid arthritis. (2008) (17)
The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome (2019) (16)
Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories (2019) (16)
Protein trafficking violations (1996) (16)
Growing genomic research on the African continent: The H3Africa Consortium. (2015) (16)
Socio-demographic and behavioural determinants of body mass index among an adult population in rural Northern Ghana: the AWI-Gen study (2018) (15)
The Y-associated XY275 low allele is not restricted to indigenous African peoples. (1992) (15)
Dysregulation of the Wnt signaling pathway in South African patients with diffuse systemic sclerosis (2018) (15)
A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis (2011) (14)
ASSAf consensus study on the ethical, legal and social implications of genetics and genomics in South Africa (2018) (14)
Measurement of kidney function in Malawi, South Africa, and Uganda: a multicentre cohort study. (2022) (14)
The high frequency of the Hb B2 variant in the Herero population: a founder effect? (1994) (14)
Diagnosing cystic fibrosis in South Africa. (2006) (13)
Prevalence and socio-demographic correlates of tobacco and alcohol use in four sub-Saharan African countries: a cross-sectional study of middle-aged adults (2020) (13)
Short- and long-read metagenomics of urban and rural South African gut microbiomes reveal a transitional composition and undescribed taxa (2022) (13)
Different adiposity indices and their association with blood pressure and hypertension in middle-aged urban black South African men and women: findings from the AWI-GEN South African Soweto Site (2018) (13)
Data resource profile: Cardiovascular H3Africa Innovation Resource (CHAIR). (2018) (13)
WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient. (2008) (13)
Epigenetics and the burden of noncommunicable disease: a paucity of research in Africa. (2015) (13)
Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa (2018) (12)
Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus. (2019) (12)
Gender differences in sociodemographic and behavioural factors associated with BMI in an adult population in rural Burkina Faso – an AWI-Gen sub-study (2018) (11)
Bantu-speaker migration and admixture in southern Africa (2020) (11)
Direct-to-consumer genetic testing: to test or not to test, that is the question. (2013) (11)
α-THALASSAEMIA IN AFRICA: THE OLDEST MALARIA PROTECTIVE TRAIT? (1984) (11)
Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family (2016) (11)
Building a Platform to Enable NCD Research to Address Population Health in Africa: CVD Working Group Discussion at the Sixth H3Africa Consortium Meeting in Zambia. (2016) (11)
Exploring genetic markers of adult obesity risk in black adolescent South Africans—the Birth to Twenty Cohort (2015) (11)
Hereditary non-polyposis colorectal cancer is predicted to contribute towards colorectal cancer in young South African blacks (2009) (11)
Safeguarding the future of genomic research in South Africa: Broad consent and the Protection of Personal Information Act No. 4 of 2013. (2019) (11)
Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations (2020) (10)
Novel and Known Gene-Smoking Interactions With cIMT Identified as Potential Drivers for Atherosclerosis Risk in West-African Populations of the AWI-Gen Study (2020) (10)
A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer’s disease (2020) (10)
MYOC Mutations in Black South African Patients with Primary Open-angle Glaucoma: Genetic Testing and Cascade Screening (2015) (10)
Genetic factors influencing bone mineral content in a black South African population (2013) (10)
Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals. (2009) (10)
G6PD distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19 (2021) (10)
The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations (2020) (10)
POPIA Code of Conduct for Research (2021) (9)
Building knowledge, optimising physical and mental health and setting up healthier life trajectories in South African women (Bukhali): a preconception randomised control trial part of the Healthy Life Trajectories Initiative (HeLTI) (2022) (9)
Poor cardiovascular health is associated with subclinical atherosclerosis in apparently healthy sub-Saharan African populations: an H3Africa AWI-Gen study (2021) (9)
No Evidence for a Parent-of-Origin Specific Differentially Methylated Region Linked to RASGRF1 (2012) (9)
Establishing an academic biobank in a resource-challenged environment (2017) (9)
African genomic data sharing and the struggle for equitable benefit (2022) (9)
Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye. (2021) (8)
The role of lysyl oxidase-like 1 DNA copy number variants in exfoliation glaucoma (2012) (8)
Insights into the genetics of blood pressure in black South African individuals: the Birth to Twenty cohort (2018) (8)
Cystic fibrosis. Part I. Frequency of the delta F508 mutation in South African families with cystic fibrosis. (1992) (8)
Yeast Artificial-Chromosome (YAC) Cloning Systems (1991) (7)
Estimating the burden of cardiovascular risk in community dwellers over 40 years old in South Africa, Kenya, Burkina Faso and Ghana (2021) (7)
Communication genes clustered on 7q31. (2000) (7)
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations. (2018) (7)
Glucocerebrosidase gene mutations in black South Africans with Gaucher disease. (2009) (7)
Autozygosity influences cardiometabolic disease-associated traits in the AWI-Gen sub-Saharan African study (2020) (7)
Potential Impact of DPYD Variation on Fluoropyrimidine Drug Response in sub-Saharan African Populations (2021) (7)
Apolipoprotein L1 High-Risk Genotypes and Albuminuria in Sub-Saharan African Populations (2022) (6)
The Use of ‘Omics for Diagnosing and Predicting Progression of Chronic Kidney Disease: A Scoping Review (2021) (6)
A Taq1 γ-globin DNA polymorphism: an African-specific marker (1986) (6)
The PTPN22 R620W polymorphism is not associated with systemic rheumatic diseases in South Africans. (2010) (6)
HLA-DRB1 Amino Acid Positions and Residues Associated with Antibody-positive Rheumatoid Arthritis in Black South Africans (2018) (6)
Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies. (1995) (6)
Mutations for the autosomal recessive and autosomal dominant forms of polycystic kidney disease are not allelic (1988) (6)
Strengthening human genetics research in Africa: report of the 9th meeting of the African Society of Human Genetics in Dakar in May 2016 (2017) (6)
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids (2021) (6)
The elusive gene for keratolytic winter erythema. (2013) (5)
Epigenetic epidemiology: is there cause for optimism? (2015) (5)
The haematological puzzle of Hb J Cape Town is partly solved (1986) (5)
Drafting a Code of Conduct for Research under the Protection of Personal Information Act No. 4 of 2013 (2021) (5)
Exclusion of CTSB and FDFT1 as positional and functional candidate genes for keratolytic winter erythema (KWE). (2012) (5)
In quest of the tyrosinase-positive oculocutaneous albinism gene. (1990) (5)
Does the sun play a role in the aetiology of malignant melanoma? A review. (2007) (5)
Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass- and fat mass-indexes (2019) (5)
Molecular analysis of the CTG trinucleotide repeat in South African myotonic dystrophy families--implications for diagnosis and counselling. (1995) (5)
Has translational genomics come of age in Africa? (2021) (5)
Glucose-6-phosphate dehydrogenase (G6PD) electrophoretic variants and the PvuII polymorphism in Southern African populations (1992) (4)
The H3Africa Consortium: Publication Outputs of a Pan-African Genomics Collaboration (2013 to 2020) (2021) (4)
Targeted ultra-deep sequencing of a South African Bantu-speaking cohort to comprehensively map and characterize common and novel variants in 65 pharmacologically-related genes (2019) (4)
First trimester prenatal diagnosis by chorionic villus sampling. The Johannesburg experience with 48 cases. (1989) (4)
Keratolytic Winter Erythema: An Update (2019) (4)
Ethical and practical issues to consider in the governance of genomic and human research data and data sharing in South Africa: a meeting report (2019) (4)
MS06.4 Subclinical Atherosclerosis In Sub-Saharan African Countries Is Driven By Prevailing Socio-Economic Conditions, HIV and Classical Cardiovascular Risk Factors: Findings From the Africa-Wits-INDEPTH Partnership For Genomic Studies (2018) (4)
Developing a Road Map to Spread Genomic Knowledge in Africa: Meeting Report: 10th Conference of the African Society of Human Genetics, Cairo, Egypt. (2019) (4)
Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits (2022) (4)
The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis (2019) (3)
A Taq 1 gamma-globin DNA polymorphism: an African-specific marker. (1986) (3)
Genetic variation and its maintenance: Malaria-protective alleles in southern Africa: relict alleles of no health significance (1986) (3)
Building Skills and Resources for Genomics, Epigenetics, and Bioinformatics Research for Africa: Report of the Joint 11th Conference of the African Society of Human Genetics and 12th H3Africa Consortium, 2018 (2020) (3)
Genetic associations with carotid intima-media thickness link to atherosclerosis with sex-specific effects in sub-Saharan Africans (2022) (3)
CFTR structural rearrangements are not a major mutational mechanism in black and coloured southern African patients with cystic fibrosis. (2009) (3)
Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass and fat mass indexes (2021) (3)
G6PD variant distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19 (2020) (3)
Antenatal diagnosis of sickle-cell anaemia by means of DNA restriction analysis. (1984) (3)
ScrfI restriction fragment length polymorphism at the D7S23 locus (probe pKM. 19), closely linked to cystic fibrosis. (1990) (3)
Community engagement and feedback of results in the H3Africa AWI-Gen project: Experiences from the Navrongo Demographic and Health Surveillance site in Northern Ghana (2021) (3)
Integrating environmental health and genomics research in Africa: challenges and opportunities identified during a Human Heredity and Health in Africa (H3Africa) Consortium workshop (2019) (3)
Implications of the first complete human genome assembly (2022) (3)
Chorionic villus sampling for first trimester diagnosis of beta-thalassaemia. Report of the first South African case. (1985) (3)
An arbitrary single copy DNA sequence VC85 [D1S85] detects a 500 bp insertion/deletion polymorphism on chromosome 1. (1989) (3)
Analysis of 40 known cystic fibrosis mutations in South African patients (1994) (3)
Brown oculocutaneous albinism is allelic to tyrosinase-positive oculocutaneous albinism in southern African Negroids (1994) (3)
Adiposity Phenotypes and Subclinical Atherosclerosis in Adults from Sub–Saharan Africa: An H3Africa AWI–Gen Study (2021) (3)
Evolutionary genomics in Africa. (2021) (3)
Characterization of CYP2D6 Pharmacogenetic Variation in Sub‐Saharan African Populations (2022) (3)
Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories (2019) (3)
Advancing non-communicable diseases research in Ghana: key stakeholders' recommendations from a symposium (2020) (3)
A third TaqI allele is detected by the probe pTD3-21 (D15S10) in southern African chromosomes. (1991) (2)
Runs of Homozygosity in sub-Saharan African populations provide insights into a complex demographic and health history (2018) (2)
Carotid Atherosclerosis, Microalbuminuria, and Estimated 10-Year Atherosclerotic Cardiovascular Disease Risk in Sub-Saharan Africa (2022) (2)
Mutation detection in the ABCC6 gene and analysis in a large international cohort affected by pseudoxanthoma elasticum (2007) (2)
New advances in cystic fibrosis--implications for developing countries. (1998) (2)
An upward trajectory of genomic publications from Africa: cautious optimism for a turning tide (2018) (2)
Correction: Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations (2021) (2)
Complete androgen insensitivity syndrome in a black South African family: a clinical and molecular investigation. (2006) (2)
Chronic kidney disease (CKD) and associated risk in rural South Africa: a population-based cohort study (2022) (2)
Implications of direct-to-consumer whole-exome sequencing in South Africa. (2016) (2)
Correction: The burden of dyslipidaemia and factors associated with lipid levels among adults in rural northern Ghana: An AWI-Gen sub-study (2019) (2)
Exome-based mutation screening in South African children with primary congenital glaucoma (2022) (2)
Corrigendum: POPIA Code of Conduct for Research (2021) (2)
Polygenic risk scores for CARDINAL study (2022) (2)
Racial and Ethnic Differences in the Association Between Classical Cardiovascular Risk Factors and Common Carotid Intima‐Media Thickness: An Individual Participant Data Meta‐Analysis (2022) (2)
Enabling the use of health data for research: Developing a POPIA code of conduct for research in South Africa (2021) (2)
Author Correction: High-depth African genomes inform human migration and health (2021) (2)
A new anonymous marker on chromosome 7, D7S420, identifies a PvuII RFLP. (1989) (1)
Candidate Gene Analysis Reveals Strong Association of CETP Variants With High Density Lipoprotein Cholesterol and PCSK9 Variants With Low Density Lipoprotein Cholesterol in Ghanaian Adults: An AWI-Gen Sub-Study (2020) (1)
The genetic defect identified and a founder effect confirmed in Namaqualand families with lipoid proteinosis (2003) (1)
A two allele XbaI RFLP at the catalase 2 locus. (1991) (1)
Lipoid proteinosis maps to 1q21 and is caused by mutations in the matrix protein 1 gene (ECM1) (2002) (1)
Genetic susceptibility for panic and phobic disorders. (2001) (1)
Gene expression profiling to predict lymphoma outcome. (2002) (1)
Faculty of 1000 evaluation for Principles for the post-GWAS functional characterization of cancer risk loci. (2011) (1)
SAT-015 APOL1 G1 AND G2 ALLELES ARE NOT ASSOCIATED WITH RENAL DISEASE IN BLACK SOUTH AFRICAN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS (2019) (1)
Perspectives on returning individual and aggregate genomic research results to study participants and communities in Kenya: a qualitative study (2022) (1)
Population-specific common SNPs reflect demographic histories and highlight regions of genomic plasticity with functional relevance (2014) (1)
Probe pJ1 [D7S402] detects a MspI RFLP on chromosome 7q31-32. (1989) (1)
Ethical issues in genomic research on the African continent: experiences and challenges to ethics review committees (2014) (1)
Author Correction: Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits (2022) (1)
The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis (2019) (1)
A genome-wide association study for rheumatoid arthritis replicates previous HLA and non-HLA associations in a cohort from South Africa. (2022) (1)
Genetic insights into smoking behaviours in 10,558 men of African ancestry from continental Africa and the UK (2021) (1)
An arbitrary single copy DNA sequence VC85 [D1S85] detects a 500 bp insertion/deletion polymorphism on chromosome 1. (1989) (1)
Non-insulin-dependent diabetes mellitus and the 5' hypervariable region of the insulin gene in two South African Indian families. (1987) (1)
“Black Lives Matter and Black Research Matters”: the African Society of Human Genetics’ call to halt racism in science (2022) (1)
Blood Pressure Indices and Associated Risk Factors in a Rural West African Adult Population: Insights from an AWI-Gen Substudy in Ghana (2020) (1)
An arbitrary single copy sequence VC64 [D1S86] detects a moderate frequency TaqI RFLP on chromosome 1]. (1989) (1)
nf-rnaSeqMetagen: A nextflow metagenomics pipeline for identifying and characterizing microbial sequences from RNA-seq data (2020) (1)
Insights into the genetics of blood pressure in black South African individuals: the Birth to Twenty cohort (2018) (1)
Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism (2004) (1)
Cystic fibrosis. Part II. New developments in cystic fibrosis--implications for carrier detection and genetic counselling. (1992) (1)
Different causes for true hermaphroditism (1998) (1)
Privacy rights of human research participants in South Africa must be taken seriously. (2020) (1)
Genetic diversity in black South Africans from (2013) (1)
The Tyrosinase-positive Oculocutaneous Albinism Locus Maps to Chromosome I Sq I 1.2-q 12 (2006) (1)
Associations Between CYP17A1 and SERPINA6/A1 Polymorphisms, and Cardiometabolic Risk Factors in Black South Africans (2021) (1)
A new marker on chromosome 15, D15S74, detects three RFLPs. (1989) (1)
A new epsilon globin HincII variant fragment length in a South African Negroid family. (1986) (1)
A platform for genomics in South Africa. (2001) (1)
Consultations in Molecular Diagnostics WGA Allows the Molecular Characterization of a Novel Large CFTR Rearrangement in a Black South African Cystic Fibrosis Patient (2010) (0)
High-depth African genomes inform human migration and health (2020) (0)
Faculty Opinions recommendation of Graphtyper enables population-scale genotyping using pangenome graphs. (2021) (0)
Coronavirus Host Genomics Study: South Africa (COVIGen-SA) (2022) (0)
Frequent vegetable consumption is inversely associated with Hypertension among indigenous Africans. (2022) (0)
Cardiometabolic disease risk factors in pre- and postmenopausal women from four sub-Saharan African countries: A cross-sectional study. (2023) (0)
nf-rnaSeqCount: A Nextflow pipeline for obtaining raw read counts from RNA-seq data (2021) (0)
Non-HDL-C and LDL-C/HDL-C are associated with self-reported cardiovascular disease in a rural West African population: Analysis of an array of lipid metrics in an AWI-Gen sub-study (2022) (0)
Faculty Opinions recommendation of Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes. (2021) (0)
Apolipoprotein E Genetic Variation and Its Association With Cognitive Function in Rural-Dwelling Older South Africans (2021) (0)
Faculty Opinions recommendation of Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data. (2021) (0)
Clinicians’ Perceptions towards Precision Medicine Tools for Cardiovascular Disease Risk Stratification in South Africa (2022) (0)
Genome-wide Association Study Meta-analysis of Blood Pressure Traits and Hypertension in Sub-Saharan African Populations: An AWI-Gen Study (2023) (0)
Abstract 766: A genome-wide association study identifies the association of common variants in the major histocompatibility complex with cervical cancer in black South African women (2023) (0)
Perspectives on returning individual and aggregate genomic research results to study participants and communities in Kenya: a qualitative study (2022) (0)
A UniqueDicentric X;YTranslocation withXqandYp Breakpoints: Cytogenetic andMolecular Studies (1987) (0)
The alpha alpha alpha anti-3.7 globin haplotype with an additional Bgl II site mutation (alpha alpha alpha anti-3.7 Bgl II(-)). (1985) (0)
Rheumatology-49.4.Letters 820..828 (2010) (0)
Gene expression patterns in oculocutaneous albinism type 2 (OCA2) patients of African descent with and without ephelides (2019) (0)
p53 allele predisposes to human papillomavirus-associated cancers (1998) (0)
Faculty Opinions recommendation of Psoriasis is associated with increased beta-defensin genomic copy number. (2008) (0)
Genetic diversity in black South Africans from Soweto (2013) (0)
45th Annual OSSA Congress 12-15 March 2015 Durban International Convention Centre : part 1 (2015) (0)
An H 3 Africa AWI-Gen Study Across 6 Sites in Sub-Saharan Africa (2017) (0)
Edinburgh Research Explorer Leveraging genomic diversity to promote human and animal health (2019) (0)
Overview of Genome Wide Association Studies and study designs - Lecture 2 H3ABioNet 2018 GWAS Lecture Series (2018) (0)
Leveraging genomic diversity to promote human and animal health (2019) (0)
Tyrosinase-positive oculocutaneous albinism in Southern African blacks: P gene-associated haplotypes suggest a major mutation in the 5{prime} region of the gene (1994) (0)
The αααAnti-3.7 globin haplotype with an additional Bg1 II site mutation (ααα anti3.7 Bgl II(−)) (1985) (0)
Analysis of the transgenome of MET transfectant cell lines reveals that MET activation is accompanied by an interstitial insertion (1990) (0)
Sydney Brenner (1927–2019): The opening game (2019) (0)
Analysis of fetal cells in maternal blood not yet a routine diagnostic test (1998) (0)
Faculty Opinions recommendation of Genome-wide analysis of the structure of the South African Coloured Population in the Western Cape. (2010) (0)
Say ‘cheese’ to cathepsin C (2000) (0)
MYOC Variants In POAG In Black South Africans (2013) (0)
Proceedings of the First Southern African Bioinformatics Workshop (2007) (0)
Cochlear development and the search for deafness genes (1999) (0)
Proceedings of the First Southern African Bioinformatics Workshop (2007) (0)
Proceedings of the First Southern African Bioinformatics Workshop (2007) (0)
Major LOXL1 Risk Allele is Reversed in a South African XFG Population (2010) (0)
A link between DNA deletions and autism (2002) (0)
Genetic Associations of LDLR, APOB and LDLRAP1 Variants with LDL-cholesterol Levels Among Africans (2018) (0)
Faculty Opinions recommendation of A chromosome 21 critical region does not cause specific Down syndrome phenotypes. (2004) (0)
Interleukin-8 genetic diversity, haplotype structure and production differ in two ethnically distinct South African populations. (2021) (0)
An optimistic vision for biosciences in South Africa: Reply to Thaldar et al. (2019) (2019) (0)
Faculty Opinions recommendation of Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. (2004) (0)
Pseudoexfoliation associated protective variant, rs7173049, reveals a novel regulatory region downstream of LOXL1 (2018) (0)
Unusual imprinting defects with low recurrence risks (1998) (0)
A high frequency two allele TaqI RFLP detected by an anonymous sequence VC61 [D2S65] on chromosome 2. (1989) (0)
Patterns of adult body mass in sub-Saharan Africa (2018) (0)
An anonymous single copy probe, D3S153, detects an SstI RFLP. (1989) (0)
Faculty of 1000 evaluation for Global variation in copy number in the human genome. (2012) (0)
FBN1 mutations implicated in PCG in a South African family (2016) (0)
The genomics era is upon us (1998) (0)
Triplet expansion: meiotic or postzygotic event? (1997) (0)
Rett gene regulates gene expression through silencing (2000) (0)
Leveraging genomic diversity to promote human and animal health (2019) (0)
3* Spectrum of CFTR mutations in a group of black patients from South Africa: Identification of a novel large rearrangement (2007) (0)
Fragile X syndrome: why tear your hair out? (1999) (0)
An arbitrary single copy sequence VC64 [D1S86] detects a moderate frequency TaqI RFLP on chromosome 1. (1989) (0)
Antisense therapy to ameliorate DMD. (2001) (0)
Genotyping of Risk Loci in Black South Africans with Rheumatoid Arthritis using the Immunochip: An Association study (2013) (0)
Corrigendum: Apolipoprotein E Genetic Variation and its Association With Cognitive Function in Rural-Dwelling Older South Africans (2022) (0)
A high frequency two allele TaqI RFLP detected by an anonymous sequence VC61 [D2S65] on chromosome 2. (1989) (0)
Professor Trefor Jenkins: a tribute. (2013) (0)
Abstract 31: Genome-wide association study of African esophageal squamous cell carcinoma (2021) (0)
A new negroid-specific HindIII polymorphism in the serum amyloid A1 (SAA1) gene increases the usefulness of the SAA locus in linkage studies. (1993) (0)
An arbitrary single copy human DNA sequence VC63 [D4S129] detects a TaqI RFLP on chromosome 4]. (1989) (0)
Correction to: Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories (2019) (0)
SOX9 and male sex determination (1996) (0)
Faculty Opinions recommendation of Use of multivariate linkage analysis for dissection of a complex cognitive trait. (2003) (0)
CVD Working Group Discussion at the Sixth H 3 Africa Consortium Meeting in Zambia (0)
Cystic fibrosis--controversial issues. (1992) (0)
Assessing runs of Homozygosity: a comparison of SNP Array and whole genome sequence low coverage data (2018) (0)
Genetic risk on chromosome 16 for sneezing and wheezing (2000) (0)
UGT1A1 regulatory variant with potential effect on efficacy of HIV and cancer drugs commonly prescribed in South Africa. (2021) (0)
Detection of a 3 allele AvaII RFLP by a single copy anonymous DNA sequence VC75 [D7S404] localized to chromosome 7. (1989) (0)
Cloning from Gels Following Pulse-Field Gel Electrophoresis (1991) (0)
Genetic analysis reveal significant and consistent pairwise interactions between common non-coding LOXL1 polymorphisms. (2018) (0)
Marianne Alberts (1928–2020): Caring, compassionate and humble biochemist and pioneer (2021) (0)
First reportofCFTR mutations inblackcystic fibrosis patients ofsouthern African origin (1996) (0)
An arbitrary single copy human DNA sequence VC63 [D4S129] detects a TaqI RFLP on chromosome 4. (1989) (0)
HSPG2 mutations identified in black South African children with Primary Congenital Glaucoma (2016) (0)
Founder Effect andthePrevalence ofMyotonic Dystrophy in SouthAfricans: Molecular Studies (1996) (0)
A new anonymous marker on chromosome 11, D11S347, detects two TaqI RFLPs. (1989) (0)
Faculty Opinions recommendation of Absence of the TAP2 human recombination hotspot in chimpanzees. (2004) (0)
Posterior segment coloboma and congenital cataract in a South African family (2016) (0)
RANKL-SIGNALING PREVENT COLLAGEN INDUCED ARTHRITIS (2009) (0)
Genomic DNA extraction and detection of bacteria immobilized in polyvinyl alcohol (2013) (0)
THU0012 Observing Dysregulation of Signal Transduction Genes in the WNT Pathway Using two Methods (2015) (0)
New mechanism of genetic susceptibility for panic and phobic disorders (2001) (0)
Detection of a 3 allele AvaII RFLP by a single copy anonymous DNA sequence VC75 [D7S404] localized to chromosome 7. (1989) (0)
POOR CARDIOVASCULAR HEALTH IS ASSOCIATED WITH SUBCLINICAL ATHEROSCLEROSIS IN SUB-SAHARAN AFRICAN POPULATIONS: AN H3AFRICA AWI-GEN STUDY (2020) (0)
Genetic Susceptibility to Breast Cancer in Sub-Saharan African Populations (2021) (0)
Chronic kidney disease (CKD) and associated risk in rural South Africa: a population-based cohort study [version 1; peer review: 1 approved, 1 approved with reservations] (2022) (0)
The Next Generation Scientist program: capacity-building for future scientific leaders in low- and middle-income countries (2018) (0)
Physical Activity and Its Association With Body Mass Index: A Cross-Sectional Analysis in Middle-Aged Adults From 4 Sub-Saharan African Countries. (2023) (0)
Genetic associations with carotid intima-media thickness link to atherosclerosis with sex-specific effects in sub-Saharan Africans (2022) (0)
Abstract P069: Vegetable Consumption And Hypertension Among 16,445 Africans (2022) (0)
Diabetes care cascade and associated factors in 10 700 middle-aged adults in four sub-Saharan African countries: a cross-sectional study (2023) (0)
Identifying the prevalence and correlates of multimorbidity in middle-aged men and women: a cross-sectional population-based study in four African countries (2023) (0)
Genetic associations with carotid intima-media thickness link to atherosclerosis biology with sex-differences in sub-Saharan Africans (2021) (0)
Faculty Opinions recommendation of Calling star alleles with stargazer in 28 pharmacogenes with whole genome sequences. (2021) (0)
Chronic kidney disease (CKD) and associated risk in rural South Africa: a population-based cohort study. (2022) (0)
The genetic basis for adult-onset idiopathic dilated cardiomyopathy in people of African descent (2023) (0)
Chronic kidney disease (CKD) and associated risk in rural South Africa: a population-based cohort study [version 1; peer review: awaiting peer review] (2022) (0)
Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans (2017) (0)
Genome-wide association study of population-standardised cognitive performance phenotypes in a rural South African community (2023) (0)

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