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Genetics of schizophrenia in the South African Xhosa

Science (American Association for the Advancement of Science), 2020-01, Vol.367 (6477), p.569-573

2020

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

Clinical genetics, 2015-05, Vol.87 (5), p.492-495

2015

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

Clinical genetics, 2011-11, Vol.80 (5), p.428-434

2011

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Epigenetics – an introductory overview

SAMJ: South African Medical Journal, 2019-06, Vol.109 (6), p.371-374

Ramesar, R.S.

2019

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Advancing public health genomics in Africa through prospective cohort studies

Journal of epidemiology and community health (1979), 2010-07, Vol.64 (7), p.585-586

2010

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

The pharmacogenomics journal, 2017-12, Vol.17 (6), p.515-520

2017

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Digitotalar dysmorphism: Molecular elucidation

SAMJ: South African Medical Journal, 2016-03, Vol.106 (3), p.253-255

2016

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

South African Medical Journal, 2016-05, Vol.106 (6 Suppl 1), p.S33-S37

2016

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

Nature genetics, 1994-08, Vol.7 (4), p.525-530

1994

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

Human genetics, 1997-07, Vol.100 (1), p.131-137

1997

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Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)

Human molecular genetics, 2001-07, Vol.10 (15), p.1555-1562

2001

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Strengthening human genetics research in Africa: report of the 9th meeting of the African Society of Human Genetics in Dakar in May 2016

Global health, epidemiology and genomics, 2017, Vol.2, p.e10-e10, Article e10

2017

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

SAMJ: South African Medical Journal, 2013-10, Vol.103 (10), p.702-703

2013

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Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity

Journal of medical genetics, 1996-06, Vol.33 (6), p.511-514

1996

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

Human genetics, 1998-05, Vol.102 (5), p.499-506

1998

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

Colorectal disease, 2007-07, Vol.9 (6), p.509-514

2007

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

Familial cancer, 2010-09, Vol.9 (3), p.357-363

2010

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Retinal degenerative disorders in Southern Africa: a molecular genetic approach

Advances in experimental medicine and biology, 2003, Vol.533, p.35

2003

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Molecular genetics improves the management of hereditary non-polyposis colorectal cancer

South African medical journal, 2000-07, Vol.90 (7), p.709-714

2000

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

Brain (London, England : 1878), 2004-01, Vol.127 (1), p.133-142

2004

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

Diseases of the colon & rectum, 1998-10, Vol.41 (10), p.1250-1253

1998

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Importance of genetic diagnosis in the management of early-onset epilepsies

South African medical journal, 2020-12, Vol.111 (1), p.8

2020

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X-Linked Ocular Albinism and Sensorineural Deafness: Linkage to Xp22.3

Genomics (San Diego, Calif.), 1993-11, Vol.18 (2), p.444-445

1993

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Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome

The New England journal of medicine, 2008-12, Vol.359 (24), p.2567-2578

2008

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

Journal of clinical oncology, 2015-11, Vol.33 (31), p.3591-3597

2015

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Genetics of schizophrenia in the South African Xhosa

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

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

Epigenetics – an introductory overview

Advancing public health genomics in Africa through prospective cohort studies

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

Digitotalar dysmorphism: Molecular elucidation

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

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

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

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)

Strengthening human genetics research in Africa: report of the 9th meeting of the African Society of Human Genetics in Dakar in May 2016

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

Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity

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

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

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

Retinal degenerative disorders in Southern Africa: a molecular genetic approach

Molecular genetics improves the management of hereditary non-polyposis colorectal cancer

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

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

Importance of genetic diagnosis in the management of early-onset epilepsies

X-Linked Ocular Albinism and Sensorineural Deafness: Linkage to Xp22.3

Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome

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

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