| 1 | Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes | 4.4 | 7 | Citations (PDF) |
| 2 | Genetic Factors Contributing to the Pathogenesis of Essential Hypertension in Two African Populations | 2.6 | 3 | Citations (PDF) |
| 3 | Human Leukocyte Antigen-Allelic Variations May Influence the Age at Cancer Diagnosis in Lynch Syndrome | 2.6 | 0 | Citations (PDF) |
| 4 | Influence of Genetic Polymorphisms on the Age at Cancer Diagnosis in a Homogenous Lynch Syndrome Cohort of Individuals Carrying the MLH1:c.1528C>T South African Founder Variant | 3.5 | 1 | Citations (PDF) |
| 5 | Genomic landscape of colorectal carcinoma in sub-Saharan Africa | 2.0 | 4 | Citations (PDF) |
| 6 | Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study† | 3.3 | 3 | Citations (PDF) |
| 7 | Massively Parallel Sequencing of 43 Arrhythmia Genes in a Selected SUDI Cohort from Cape Town | 0.7 | 1 | Citations (PDF) |
| 8 | Correspondence on “Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database” by Dominguez-Valentin et al | 4.3 | 3 | Citations (PDF) |
| 9 | Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries | 2.6 | 14 | Citations (PDF) |
| 10 | Organophosphate pesticide exposure as a risk factor for attempted suicide in Cape Town, South Africa: A case-control study | 1.6 | 1 | Citations (PDF) |
| 11 | Whole Exome Sequencing in South Africa: Stakeholder Views on Return of Individual Research Results and Incidental Findings | 2.4 | 12 | Citations (PDF) |
| 12 | Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up | 1.5 | 44 | Citations (PDF) |
| 13 | Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects | 3.3 | 7 | Citations (PDF) |
| 14 | A comparative cost analysis of two screening strategies for colorectal cancer in Lynch Syndrome in a South African tertiary hospital | 1.8 | 2 | Citations (PDF) |
| 15 | Overlap in genetic risk for cross-disorder vulnerability to mental disorders and genetic risk for altered subcortical brain volumes | 4.8 | 7 | Citations (PDF) |
| 16 | Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations | 6.5 | 95 | Citations (PDF) |
| 17 | Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study | 26.0 | 93 | Citations (PDF) |
| 18 | A review of systems biology research of anxiety disorders | 1.1 | 10 | Citations (PDF) |
| 19 | Association of Novel Locus With Rheumatic Heart Disease in Black African Individuals | 10.4 | 27 | Citations (PDF) |
| 20 | Variations in seasonal solar insolation are associated with a history of suicide attempts in bipolar I disorder | 2.5 | 17 | Citations (PDF) |
| 21 | PROTEA, A Southern African Multicenter Congenital Heart Disease Registry and Biorepository: Rationale, Design, and Initial Results | 1.8 | 14 | Citations (PDF) |
| 22 | Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa | 6.5 | 112 | Citations (PDF) |
| 23 | Whole-exome sequencing in an Afrikaner family with bipolar disorder | 4.8 | 6 | Citations (PDF) |
| 24 | De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline | 2.6 | 15 | Citations (PDF) |
| 25 | Association of Sex With Frequent and Mild <i>ABCA4</i> Alleles in Stargardt Disease | 4.6 | 42 | Citations (PDF) |
| 26 | Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics | 4.3 | 121 | Citations (PDF) |
| 27 | Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial | 52.8 | 350 | Citations (PDF) |
| 28 | Trends in Suicide Mortality in South Africa, 1997 to 2016 | 3.1 | 35 | Citations (PDF) |
| 29 | Assessment of candidate variants causative of inborn metabolic diseases in SUDI cases in South Africa, and a case report | 2.0 | 6 | Citations (PDF) |
| 30 | Age, absolute CD4 count, and CD4 percentage in relation to HPV infection and the stage of cervical disease in HIV-1-positive women | 1.3 | 14 | Citations (PDF) |
| 31 | Developing a Road Map to Spread Genomic Knowledge in Africa: 10th Conference of the African Society of Human Genetics, Cairo, Egypt | 0.0 | 8 | Citations (PDF) |
| 32 | 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 | 2.7 | 23 | Citations (PDF) |
| 33 | Investigation on the hereditary basis of colorectal cancers in an African population with frequent early onset cases | 2.4 | 13 | Citations (PDF) |
| 34 | Association between solar insolation and a history of suicide attempts in bipolar I disorder | 3.0 | 37 | Citations (PDF) |
| 35 | Concordance of genetic variation that increases risk for Tourette Syndrome and that influences its underlying neurocircuitry | 5.5 | 26 | Citations (PDF) |
| 36 | Investigation of Cervical Tumor Biopsies for Chromosomal Loss of Heterozygosity (LOH) and Microsatellite Instability (MSI) at the HLA II Locus in HIV-1/HPV Co-infected Women | 2.7 | 10 | Citations (PDF) |
| 37 | Massively parallel sequencing in sudden unexpected death in infants: A case report in South Africa | 0.5 | 4 | Citations (PDF) |
| 38 | Concordance of genetic variation that increases risk for anxiety disorders and posttraumatic stress disorders and that influences their underlying neurocircuitry | 4.8 | 24 | Citations (PDF) |
| 39 | Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community | 3.0 | 4 | Citations (PDF) |
| 40 | A case–control study of risk factors for colorectal cancer in an African population | 2.1 | 29 | Citations (PDF) |
| 41 | ASSAf consensus study on the ethical, legal and social implications of genetics and genomics in South Africa | 1.0 | 6 | Citations (PDF) |
| 42 | Impact of Host Molecular Genetic Variations and HIV/HPV Co-infection on Cervical Cancer Progression: A Systematic review | 0.6 | 11 | Citations (PDF) |
| 43 | Dietary patterns and colorectal cancer risk in Zimbabwe: A population based case-control study | 2.1 | 17 | Citations (PDF) |
| 44 | Dravet syndrome in South African infants: Tools for an early diagnosis | 2.2 | 14 | Citations (PDF) |
| 45 | Significant concordance of genetic variation that increases both the risk for obsessive–compulsive disorder and the volumes of the nucleus accumbens and putamen | 1.9 | 36 | Citations (PDF) |
| 46 | A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases | 0.7 | 20 | Citations (PDF) |
| 47 | Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma | 5.5 | 45 | Citations (PDF) |
| 48 | Genetic variation within<i>GRIN2B</i>in adolescents with alcohol use disorder may be associated with larger left posterior cingulate cortex volume | 2.3 | 10 | Citations (PDF) |
| 49 | A review of the optimisation of the use of formalin fixed paraffin embedded tissue for molecular analysis in a forensic post-mortem setting | 2.1 | 28 | Citations (PDF) |
| 50 | Reconstructing Prehistoric African Population StructureCell, 2017, 171, 59-71.e21 | 34.1 | 386 | Citations (PDF) |
| 51 | Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans | 13.9 | 112 | Citations (PDF) |
| 52 | New-onset diabetes after transplant: Incidence, risk factors and outcome | 0.7 | 10 | Citations (PDF) |
| 53 | Ethical considerations in forensic genetics research on tissue samples collected post-mortem in Cape Town, South Africa | 2.6 | 16 | Citations (PDF) |
| 54 | Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10 | 0.7 | 12 | Citations (PDF) |
| 55 | Digitotalar dysmorphism: Molecular elucidation | 0.7 | 2 | Citations (PDF) |
| 56 | Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing 2016, 57, 6374 | | 21 | Citations (PDF) |
| 57 | Inherited retinal disorders in South Africa and the clinical impact of evolving technologies | 0.7 | 7 | Citations (PDF) |
| 58 | The incidence and histo-pathological characteristics of colorectal cancer in a population based cancer registry in Zimbabwe | 2.1 | 18 | Citations (PDF) |
| 59 | Minimum Information Required for a DMET Experiment Reporting | 1.6 | 6 | Citations (PDF) |
| 60 | Toward a Global Roadmap for Precision Medicine in Psychiatry: Challenges and Opportunities | 1.8 | 25 | Citations (PDF) |
| 61 | Pharmacokinetics of rosuvastatin in 30 healthy Zimbabwean individuals of African ancestry | 2.7 | 13 | Citations (PDF) |
| 62 | Promoter region variation in NFE2L2 influences susceptibility to ototoxicity in patients exposed to high cumulative doses of cisplatin | 2.8 | 28 | Citations (PDF) |
| 63 | Large Scale Genetic Research on Neuropsychiatric Disorders in African Populations is Needed | 9.9 | 39 | Citations (PDF) |
| 64 | 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 | 0.7 | 60 | Citations (PDF) |
| 65 | A Founder Mutation in<i>MYO7A</i>Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora 2015, 56, 6671 | | 11 | Citations (PDF) |
| 66 | A Genomic Portrait of Haplotype Diversity and Signatures of Selection in Indigenous Southern African Populations | 3.3 | 44 | Citations (PDF) |
| 67 | The Importance of G Protein-Coupled Receptor Kinase 4 (GRK4) in Pathogenesis of Salt Sensitivity, Salt Sensitive Hypertension and Response to Antihypertensive Treatment | 4.5 | 28 | Citations (PDF) |
| 68 | Influence of light exposure during early life on the age of onset of bipolar disorder | 3.0 | 48 | Citations (PDF) |
| 69 | Exploring researchers’ experiences of working with a researcher-driven, population-specific community advisory board in a South African schizophrenia genomics study | 2.6 | 37 | Citations (PDF) |
| 70 | Possible involvement of the circadian pathway in alcohol use disorder in a South African adolescent cohort | 3.0 | 4 | Citations (PDF) |
| 71 | Glutamatergic and HPA-axis pathway genes in bipolar disorder comorbid with alcohol- and substance use disorders | 3.0 | 10 | Citations (PDF) |
| 72 | 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 | 2.4 | 93 | Citations (PDF) |
| 73 | High prevalence of cisplatin-induced ototoxicity in Cape Town, South Africa | 0.7 | 35 | Citations (PDF) |
| 74 | Genetic Variation in Otos is Associated with Cisplatin-Induced Ototoxicity | 1.6 | 23 | Citations (PDF) |
| 75 | The BDNFp.Val66Met polymorphism, childhood trauma, and brain volumes in adolescents with alcohol abuse | 3.4 | 15 | Citations (PDF) |
| 76 | Ready to Put Metadata on the Post-2015 Development Agenda? Linking Data Publications to Responsible Innovation and Science Diplomacy | 1.8 | 33 | Citations (PDF) |
| 77 | Would you terminate a pregnancy affected by sickle cell disease? Analysis of views of patients in Cameroon | 2.4 | 27 | Citations (PDF) |
| 78 | Psychosocial Burden of Sickle Cell Disease on Parents with an Affected Child in Cameroon | 1.7 | 46 | Citations (PDF) |
| 79 | 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 | 3.0 | 5 | Citations (PDF) |
| 80 | Psychosocial Stressors of Sickle Cell Disease on Adult Patients in Cameroon | 1.7 | 11 | Citations (PDF) |
| 81 | A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing | 1.4 | 6 | Citations (PDF) |
| 82 | Fertility and apparent genetic anticipation in Lynch syndrome | 1.5 | 4 | Citations (PDF) |
| 83 | Relationship between sunlight and the age of onset of bipolar disorder: An international multisite study | 4.8 | 51 | Citations (PDF) |
| 84 | Association of Variants at BCL11A and HBS1L-MYB with Hemoglobin F and Hospitalization Rates among Sickle Cell Patients in Cameroon | 2.4 | 86 | Citations (PDF) |
| 85 | A Mobile Colonoscopic Unit for Lynch Syndrome: Trends in Surveillance Uptake and Patient Experiences of Screening in a Developing Country | 1.7 | 9 | Citations (PDF) |
| 86 | Communicating cancer risk within an African context: Experiences, disclosure patterns and uptake rates following genetic testing for Lynch syndrome | 2.2 | 19 | Citations (PDF) |
| 87 | Direct-to-consumer genetic testing: To test or not to test, that is the question | 0.7 | 12 | Citations (PDF) |
| 88 | The value of genetic testing for inherited retinal disease caused by mutations in the ABCA4 gene in South Africans | 0.7 | 0 | Citations (PDF) |
| 89 | Determining Ancestry Proportions in Complex Admixture Scenarios in South Africa Using a Novel Proxy Ancestry Selection Method | 2.4 | 56 | Citations (PDF) |
| 90 | PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients | 2.0 | 49 | Citations (PDF) |
| 91 | Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial | 26.0 | 99 | Citations (PDF) |
| 92 | UCT’s contribution to medical genetics in Africa - from the past into the future | 0.7 | 11 | Citations (PDF) |
| 93 | Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial | 52.8 | 907 | Citations (PDF) |
| 94 | The A142V Polymorphism of the G Protein Coupled Receptor Kinase 4 Gene Predicts Natriuretic Response to Saline Challenge in Young Normotensive Lean Black and White South African Men | 0.5 | 5 | Citations (PDF) |
| 95 | UCT and CPGR join forces with international Pharmacogenomics initiative focussing on African diseases | 0.6 | 0 | Citations (PDF) |
| 96 | Lynch syndrome: the influence of environmental factors on extracolonic cancer risk in hMLH1 c.C1528T mutation carriers and their mutation-negative sisters | 1.5 | 15 | Citations (PDF) |
| 97 | Psychosis and relapse in bipolar disorder are related to GRM3, DAOA, and GRIN2B genotype | 0.0 | 18 | Citations (PDF) |
| 98 | Advancing public health genomics in Africa through prospective cohort studies | 3.1 | 11 | Citations (PDF) |
| 99 | Report on the 6th African Society of Human Genetics (AfSHG) Meeting, March 12–15, 2009, Yaoundé, Cameroon | 0.0 | 8 | Citations (PDF) |
| 100 | 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 | 2.4 | 16 | Citations (PDF) |
| 101 | Computational Analysis of Candidate Disease Genes and Variants for Salt-Sensitive Hypertension in Indigenous Southern Africans | 2.4 | 13 | Citations (PDF) |
| 102 | Clinical Utility of the ABCR400 Microarray | 2.2 | 6 | Citations (PDF) |
| 103 | Bipolar Disorder: Emotional Dysregulation and Neuronal Vulnerability | 0.6 | 10 | Citations (PDF) |
| 104 | Neuropsychological status of bipolar I disorder: impact of
psychosis | 1.9 | 57 | Citations (PDF) |
| 105 | Catechol-o-Methyltransferase Genotype and Childhood Trauma May Interact to Impact Schizotypal Personality Traits | 1.5 | 32 | Citations (PDF) |
| 106 | Management of a South African family with retinitis pigmentosa—should potential therapy influence translational research protocols? | 0.5 | 1 | Citations (PDF) |
| 107 | Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics | 3.0 | 88 | Citations (PDF) |
| 108 | South Africa: from species cradle to genomic applications | 47.6 | 43 | Citations (PDF) |
| 109 | Dysthymic and anxiety-related personality traits in bipolar spectrum illness | 4.8 | 39 | Citations (PDF) |
| 110 | Hypomanic, cyclothymic and hostile personality traits in bipolar spectrum illness: A family-based study | 3.0 | 70 | Citations (PDF) |
| 111 | The Human Variome Project | 36.4 | 64 | Citations (PDF) |
| 112 | Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome | 43.7 | 286 | Citations (PDF) |
| 113 | The relationship between childhood abuse and dissociation. Is it influenced by catechol-O-methyltransferase (COMT) activity? | 2.8 | 53 | Citations (PDF) |
| 114 | Prioritization of candidate disease genes for metabolic syndrome by computational analysis of its defining phenotypes | 2.5 | 21 | Citations (PDF) |
| 115 | Genotype and Childhood Sexual Trauma Moderate Neurocognitive Performance: A Possible Role for Brain-Derived Neurotrophic Factor and Apolipoprotein E Variants | 5.5 | 62 | Citations (PDF) |
| 116 | A linkage and family-based association analysis of a potential neurocognitive endophenotype of bipolar disorder | 3.6 | 7 | Citations (PDF) |
| 117 | The extracolonic cancer spectrum in females with the common ‘South African’ hMLH1 c.C1528T mutation | 1.5 | 15 | Citations (PDF) |
| 118 | Warriors Versus Worriers: The Role of COMT Gene Variants | 0.6 | 148 | Citations (PDF) |
| 119 | Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes | 2.0 | 19 | Citations (PDF) |
| 120 | A brain-behaviour initiative for South Africa: the time is right | 3.0 | 10 | Citations (PDF) |
| 121 | Apolipoprotein E variants and cognition in healthy individuals: A critical opinion | 6.1 | 37 | Citations (PDF) |
| 122 | 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 | 1.8 | 35 | Citations (PDF) |
| 123 | Trends in Suicidology: Personality as an Endophenotype for Molecular Genetic Investigations | 8.5 | 33 | Citations (PDF) |
| 124 | Neurocognitive Function as an Endophenotype for Genetic Studies of Bipolar Affective Disorder | 3.6 | 55 | Citations (PDF) |
| 125 | Mutation Spectrum and Founder Chromosomes for theABCA4Gene in South African Patients with Stargardt Disease 2004, 45, 1705 | | 41 | Citations (PDF) |
| 126 | Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's diseaseBrain, 2004, 127, 133-142 | 8.5 | 46 | Citations (PDF) |
| 127 | Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa | 7.6 | 109 | Citations (PDF) |
| 128 | The hereditary adult-onset ataxias in South Africa | 2.4 | 82 | Citations (PDF) |
| 129 | A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing | 1.2 | 13 | Citations (PDF) |
| 130 | A computer-based register for inherited retinal dystrophies in Southern Africa | 1.2 | 6 | Citations (PDF) |
| 131 | Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK | 6.5 | 187 | Citations (PDF) |
| 132 | LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development | 34.1 | 2,129 | Citations (PDF) |
| 133 | A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum | 3.8 | 49 | Citations (PDF) |
| 134 | Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America | 3.0 | 33 | Citations (PDF) |
| 135 | Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13) | 3.0 | 262 | Citations (PDF) |
| 136 | A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure | 3.8 | 64 | Citations (PDF) |
| 137 | Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum | 3.8 | 127 | Citations (PDF) |
| 138 | Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa | 6.5 | 177 | Citations (PDF) |
| 139 | Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin | 3.2 | 17 | Citations (PDF) |
| 140 | X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats | 6.5 | 100 | Citations (PDF) |
| 141 | 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 | 2.8 | 16 | Citations (PDF) |
| 142 | Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations | 3.0 | 72 | Citations (PDF) |
| 143 | In a resource-poor country, mutation identification has the potential to reduce the cost of family management for hereditary nonpolyposis colorectal cancer | 1.8 | 16 | Citations (PDF) |
| 144 | Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South African families | 3.0 | 23 | Citations (PDF) |
| 145 | Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes | 3.0 | 19 | Citations (PDF) |
| 146 | Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. | 3.9 | 27 | Citations (PDF) |
| 147 | An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q | 3.0 | 47 | Citations (PDF) |
| 148 | A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family | 3.0 | 20 | Citations (PDF) |
| 149 | Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence | 26.1 | 144 | Citations (PDF) |
| 150 | Brachydactylous dwarfs of Mseleni | 0.5 | 14 | Citations (PDF) |
| 151 | X-Linked Ocular Albinism and Sensorineural Deafness: Linkage to Xp22.3 | 2.8 | 27 | Citations (PDF) |
| 152 | Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome. | 3.9 | 54 | Citations (PDF) |
| 153 | Hearing Impairment and Pigmentary Disturbance | 4.1 | 26 | Citations (PDF) |
| 154 | Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen | 0.5 | 36 | Citations (PDF) |
| 155 | Nucleotide sequence and expression of a cloned Thiobacillus ferrooxidans recA gene in Escherichia coli | 2.4 | 44 | Citations (PDF) |
| 156 | Cloning and Expression in Escherichia coli of a rec A-like Gene from the Acidophilic Autotroph Thiobacillus ferrooxidans | 3.0 | 7 | Citations (PDF) |
| 157 | Investigating somatic variants and pathways in mismatch repair-deficient (dMMR) colorectal carcinoma in South Africa | 2.0 | 1 | Citations (PDF) |
