J. Greenberg

发表

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

W. Sly, S. Bardien, A. Waheed, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations

B. J. Klevering, C. Klaver, B. Lorenz, 2013, Human mutation.

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

F. Squitieri, H. Kremer, M. Anvret, 1993, Human molecular genetics.

The Guanine-Thymine Dinucleotide Repeat Polymorphism within the Tenascin-C Gene is Associated with Achilles Tendon Injuries

T. Noakes, M. Schwellnus, G. G. Mokone, 2005, The American journal of sports medicine.

The hereditary adult-onset ataxias in South Africa

A. Bryer, R. Ramesar, A. Krause, 2003, Journal of the Neurological Sciences.

Retinal degenerative disorders in Southern Africa: a molecular genetic approach.

R. Ramesar, R. Goliath, G. Rebello, 2003, Advances in experimental medicine and biology.

The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population

S. Tishkoff, M. Hayden, N. Gerry, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa

S. Bardien, R. Ramesar, R. Goliath, 1998, Human mutation.

Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder.

P. Beighton, D. Viljoen, G. Cortopassi, 1997, Journal of medical genetics.

Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.

K. Arnos, L. Farrer, C. Baldwin, 1994, American journal of human genetics.

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence.

I. Kanazawa, M. Hayden, B. Kremer, 1994, Human molecular genetics.

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

R. Ramesar, L. Roberts, J. Greenberg, 2009, Archives of ophthalmology.

Alström syndrome: further evidence for linkage to human chromosome 2p13

R. Weksberg, J. Naggert, C. Boerkoel, 1999, Human Genetics.

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

M. Ramsay, Z. Lombard, R. Ramesar, 2013, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

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

S. Bhattacharya, S. Bardien, R. Ramesar, 1997, Human Genetics.

A Comprehensive Haplotype Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease.

M. Hayden, J. Collins, F. Squitieri, 2019, American journal of human genetics.

A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations

J. Scholefield, J. Greenberg, 2007, European Journal of Human Genetics.

The α2CDel322-325 adrenergic receptor polymorphism is not associated with heart failure due to idiopathic dilated cardiomyopathy in black Africans

J. Greenberg, B. Mayosi, P. Mntla, 2008, Cardiovascular journal of Africa.

Towards guidelines for informed consent for prospective stem cell research

J. Greenberg, S. Kidson, D. Smith, 2015 .

Clinical diagnoses that overlap with choroideremia.

P. Sieving, I. MacDonald, J. Heckenlively, 2003, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

Understanding of Genetic Inheritance among Xhosa-Speaking Caretakers of Children with Hemophilia

C. Penn, J. Greenberg, L. Vivian, 2012, Journal of Genetic Counseling.

Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.

D. Curtis, P. Beighton, R. Spritz, 1992, American journal of human genetics.

Hearing Impairment and Pigmentary Disturbance a

P. Beighton, D. Viljoen, R. Ramesar, 1991, Annals of the New York Academy of Sciences.

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

J. W. Askew, W. Reardon, H. Kremer, 2002, American journal of human genetics.

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

S. Jacobson, C. Cremers, W. Reardon, 2000, American journal of human genetics.

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

S. Mundlos, S. Mead, M. Mhlanga, 2020, American journal of human genetics.

Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p.

J. Weissenbach, P. Beighton, Y. Shugart, 1995, American journal of human genetics.

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

P. Beighton, S. Bardien, C. Inglehearn, 1995, Human molecular genetics.

A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

P. Beighton, R. Ramesar, R. Goliath, 1994, Human molecular genetics.

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

A. Hoischen, C. Klaver, D. Sharon, 2019, bioRxiv.

Genetics of Ocular Vascular Disease

S. Daiger, A. Ziskind, J. Greenberg, 2006 .

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

S. Mundlos, P. Beighton, S. Bardien, 1996, Journal of medical genetics.

Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.

W. Reardon, P. Beighton, C. Möller, 1992, Genomics.

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

R. Ramesar, L. Roberts, J. Greenberg, 2015, Investigative ophthalmology & visual science.

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

R. Ramesar, G. Rebello, L. Roberts, 2008, Journal of ocular biology, diseases, and informatics.

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

D. Mackey, F. Cremers, A. Bird, 2001, Human molecular genetics.

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

C. Cremers, W. Kimberling, R. Ramesar, 2000, American journal of human genetics.

Retinitis pigmentosa in Southern Africa

P. Beighton, R. Ramesar, J. Greenberg, 1993, Clinical genetics.

Unusual Frequencies of Rhodopsin Mutations and Polymorphisms in Southern African Patients with Retinitis Pigmentosa

R. Ramesar, L. Roberts, J. Greenberg, 2001 .

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

R. Ramesar, L. Roberts, J. Greenberg, 2000, Clinical genetics.

Genetic mapping of retinitis pigmentosa--implications for South African patients.

P. Beighton, R. Ramesar, J. Greenberg, 1994, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Autosomal recessive RP (ARRP)

P. Beighton, R. Ramesar, J. Greenberg, 1994 .

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

K. Arnos, A. Pandya, L. Farrer, 1998, Human Genetics.

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

R. Ramesar, G. Rebello, A. Vorster, 2003, Clinical genetics.

Qualitative Research Methodology in the Exploration of Patients' Perceptions of Participating in a Genetic Research Program

J. Greenberg, M. Futter, F. Basson, 2007, Ophthalmic genetics.

GENE TIC COUNSELING IN SOUTH AFRICA

J. Greenberg, K. Loggenberg, Tina-Marié Wessels, 2012 .

SORSBY'S FUNDUS DYSTROPHY: A South African Family with a Point Mutation on the Tissue Inhibitor of Metalloproteinases‐3 Gene on Chromosome 22

J. Greenberg, A. L. Peters, 1995, Retina.

The gene for PEDF, a retinal growth factor is a prime candidate for retinitis pigmentosa and is tightly linked to the RP13 locus on chromosome 17p13.3.

G. Chader, R. Ramesar, R. Goliath, 1996, Molecular vision.

The world through their eyes: The perceptions and lived experience among Capetonian young adults with hereditary visual impairment

J. Greenberg, Cordelia Leisegang, Kalinka Popel, 2020 .

Looking for the Homochiral Signature of Life: The Seth Cigar

A. Brack, R. Haberle, W. Thiemann, 1996 .

A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family.

P. Beighton, R. Ramesar, I. Winship, 1994, Human molecular genetics.

Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin

M. Lovett, J. Bryan, R. Ramesar, 1999, European Journal of Human Genetics.

Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts

M. Wood, J. Scholefield, L. Watson, 2014, European Journal of Human Genetics.

Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation.

U. Felbor, M. Klein, J. Greenberg, 1997, Archives of ophthalmology.

Update on Inherited Retinal Disease in South Africa: Encouraging Diversity in Molecular Genetics.

R. Ramesar, G. Rebello, L. Roberts, 2019, Advances in experimental medicine and biology.

Global Awakening in Genetic Counseling

J. Greenberg, M. Sahhar, J. Edwards, 2008 .

Genetic testing for Huntington's disease in South Africa.

A. Krause, J. Greenberg, 2008, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Huntington disease: prenatal screening for late onset disease.

J. Greenberg, 1993, Journal of medical ethics.

A photoreceptor gene mutation in an indigenous black African family with retinitis pigmentosa identified using a rapid screening approach for common rhodopsin mutations.

R. Ramesar, R. Goliath, J. Greenberg, 1999, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Caution regarding the interpretation of homoallelism in polyglutamine multiplex assays: a recommendation for confirmatory testing of homozygous alleles.

J. Greenberg, A. Esterhuizen, Danielle C. Smith, 2013, Journal of Molecular Diagnostics.

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

R. Ramesar, G. Rebello, J. Greenberg, 2007 .

Novel variants in the hotspot region of RP1 in South African patients with retinitis pigmentosa.

R. Ramesar, L. Roberts, J. Greenberg, 2006, Molecular vision.

UCT's contribution to medical genetics in Africa - from the past into the future.

P. Beighton, K. Fieggen, R. Ramesar, 2012, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

A. Hoischen, C. Klaver, D. Sharon, 2020, Genetics in Medicine.

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

R. Ramesar, L. Roberts, J. Greenberg, 2003, Ophthalmic genetics.

The parent trap: Unexpected revelations that influenced the genetic management of a family with Stargardt disease

L. Roberts, J. Greenberg, 2012 .