Published in OMICS on August 27, 2014
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families. Clin Genet (2016) 0.77
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HIV-1 Disease Progression and Survival in an Adult Population in Zimbabwe: Is There an Effect of the Mannose Binding Lectin Deficiency? OMICS (2015) 0.75
The genetic structure and history of Africans and African Americans. Science (2009) 10.65
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med (1998) 4.34
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 3.85
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med (2003) 2.00
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One (2012) 1.83
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet (2001) 1.61
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. Hum Genet (2003) 1.61
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet (2000) 1.48
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum Mutat (2001) 1.29
Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa). Eur J Med Genet (2012) 1.21
Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Br J Dermatol (2007) 1.12
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. Am J Med Genet A (2007) 0.98
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. Int J Pediatr Otorhinolaryngol (2011) 0.95
Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants. Hum Mutat (2004) 0.93
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. BMC Med Genet (2013) 0.90
Early hearing detection and intervention in South Africa. Int J Pediatr Otorhinolaryngol (2009) 0.90
GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon. Int J Audiol (2010) 0.86
Place of birth and characteristics of infants with congenital and early-onset hearing loss in a developing country. Int J Pediatr Otorhinolaryngol (2009) 0.84
In search of genetic markers for nonsyndromic deafness in Africa: a study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genes. OMICS (2014) 0.83
Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05
Management of neural tube defects in a Sub-Saharan African country: the situation in Yaounde, Cameroon. J Neurol Sci (2008) 1.70
Effect of rifampicin-based antitubercular therapy and the cytochrome P450 2B6 516G>T polymorphism on efavirenz concentrations in adults in South Africa. Antivir Ther (2009) 1.66
The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study. AIDS (2004) 1.63
Pharmacogenomic Research in South Africa: Lessons Learned and Future Opportunities in the Rainbow Nation. Curr Pharmacogenomics Person Med (2011) 1.49
H3ABioNet, a sustainable pan-African bioinformatics network for human heredity and health in Africa. Genome Res (2015) 1.39
Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: implications for the evaluation of patients with unexplained cardiomyopathy. S Afr Med J (2011) 1.27
Ready to put metadata on the post-2015 development agenda? Linking data publications to responsible innovation and science diplomacy. OMICS (2014) 1.24
Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa). Eur J Med Genet (2012) 1.21
Clinical characteristics and outcomes of familial and idiopathic dilated cardiomyopathy in Cape Town: a comparative study of 120 cases followed up over 14 years. S Afr Med J (2011) 1.20
Ethical and legal implications of whole genome and whole exome sequencing in African populations. BMC Med Ethics (2013) 1.14
Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana. BMC Genet (2009) 1.00
Genetic polymorphisms of alcohol metabolising enzymes: their role in susceptibility to oesophageal cancer. Clin Chem Lab Med (2008) 0.96
The 341C/T polymorphism in the GSTP1 gene is associated with increased risk of oesophageal cancer. BMC Genet (2010) 0.95
Cytochrome P450 pharmacogenetics in African populations: implications for public health. Expert Opin Drug Metab Toxicol (2014) 0.94
Blood pressure gradients and cardiovascular risk factors in urban and rural populations in Abia State South Eastern Nigeria using the WHO STEPwise approach. PLoS One (2013) 0.94
Beta-globin gene haplotypes among cameroonians and review of the global distribution: is there a case for a single sickle mutation origin in Africa? OMICS (2015) 0.94
Mitochondrial DNA subhaplogroups L0a2 and L2a modify susceptibility to peripheral neuropathy in malawian adults on stavudine containing highly active antiretroviral therapy. J Acquir Immune Defic Syndr (2013) 0.92
Association of cytochrome P450 2E1 genetic polymorphisms with squamous cell carcinoma of the oesophagus. Clin Chem Lab Med (2005) 0.92
Computational selection and prioritization of candidate genes for fetal alcohol syndrome. BMC Genomics (2007) 0.92
Prevalence and correlates of depressive symptoms in HIV-positive patients: a cross-sectional study among newly diagnosed patients in Yaoundé, Cameroon. BMC Psychiatry (2013) 0.91
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. BMC Med Genet (2013) 0.90
Acceptance of abortion by doctors and medical students in Cameroon. Lancet (2007) 0.90
ABCB1 4036A>G and 1236C>T Polymorphisms Affect Plasma Efavirenz Levels in South African HIV/AIDS Patients. Front Genet (2012) 0.89
Absence seizures associated with efavirenz initiation. Pediatr Infect Dis J (2011) 0.89
The African-specific CYP2D617 allele encodes an enzyme with changed substrate specificity. Clin Pharmacol Ther (2002) 0.89
PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients. BMC Med Genet (2012) 0.89
Sickle Cell Disease. N Engl J Med (2017) 0.89
Fas and FasL gene polymorphisms are not associated with cervical cancer but differ among Black and Mixed-ancestry South Africans. BMC Res Notes (2009) 0.88
Population-specific common SNPs reflect demographic histories and highlight regions of genomic plasticity with functional relevance. BMC Genomics (2014) 0.88
CCR2-V64I polymorphism is associated with increased risk of cervical cancer but not with HPV infection or pre-cancerous lesions in African women. BMC Cancer (2010) 0.87
UCT's contribution to medical genetics in Africa - from the past into the future. S Afr Med J (2012) 0.84
High predictive value of CYP2B6 SNPs for steady-state plasma efavirenz levels in South African HIV/AIDS patients. Pharmacogenet Genomics (2013) 0.84
Biomedical research, a tool to address the health issues that affect African populations. Global Health (2013) 0.83
In search of genetic markers for nonsyndromic deafness in Africa: a study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genes. OMICS (2014) 0.83
Translating biotechnology to knowledge-based innovation, peace, and development? Deploy a Science Peace Corps--an open letter to world leaders. OMICS (2014) 0.82
Characterization of the genetic variation present in CYP3A4 in three South African populations. Front Genet (2013) 0.82
Prenatal diagnosis and termination of pregnancy: perspectives of South African parents of children with Down syndrome. J Community Genet (2012) 0.82
A Fas gene polymorphism influences herpes simplex virus type 2 infection in South African women. J Med Virol (2010) 0.82
Assessment of the 10-year risk of cardiovascular events among a group of Sub-Saharan African post-menopausal women. Cardiol J (2015) 0.81
Initiation of prenatal genetic diagnosis of sickle cell anaemia in Cameroon (sub-Saharan Africa). Prenat Diagn (2011) 0.81
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. PLoS One (2010) 0.81
A systematic review of known mechanisms of hydroxyurea-induced fetal hemoglobin for treatment of sickle cell disease. Expert Rev Hematol (2015) 0.80
Urethral duplication in a 12-year-old child. Afr J Paediatr Surg (2012) 0.79
CASP8 promoter polymorphism is associated with high-risk HPV types and abnormal cytology but not with cervical cancer. J Med Virol (2011) 0.78
Stroke may appear to be rare in Saudi-Arabian and Nigerian children with sickle cell disease, but not in Cameroonian sickle cell patients. Br J Haematol (2006) 0.78
CCR2, CX3CR1, RANTES and SDF1 genetic polymorphisms influence HIV infection in a Zimbabwean pediatric population. J Infect Dev Ctries (2014) 0.77
Genomic medicine and risk prediction across the disease spectrum. Crit Rev Clin Lab Sci (2015) 0.77
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations. Eur J Med Genet (2013) 0.77
Prenatal diagnosis may represent a point of entry of genetic science in sub-Saharan Africa: a survey on the attitudes of medical students and physicians from Cameroon. Prenat Diagn (2006) 0.77
Mitochondrial subhaplogroups and differential risk of stavudine-induced lipodystrophy in Malawian HIV/AIDS patients. Pharmacogenomics (2013) 0.76
How does mother-to-child transmission of HIV differ among African populations? Lessons from MBL2 genetic variation in Zimbabweans. OMICS (2014) 0.76
Report on the 6th African Society of Human Genetics (AfSHG) Meeting, March 12-15, 2009, Yaounde, Cameroon. Am J Trop Med Hyg (2010) 0.75
Chromosome 22q11 in a Xhosa schizophrenia population. S Afr Med J (2012) 0.75
Editorial Note to:Nuclear Receptor NR1H3 in Familial Multiple Sclerosis. Neuron (2016) 0.75
Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop. Hum Mutat (2015) 0.75
Diagnosis of hypertensive disorders of pregnancy in sub-Saharan Africa: a poorly assessed but increasingly important issue. J Clin Hypertens (Greenwich) (2014) 0.75
Nuclear Receptor NR1H3 in Familial Multiple Sclerosis. Neuron (2016) 0.75
Fibrodysplasia ossificans progressiva in South Africa: difficulties in management in a developing country. J Clin Rheumatol (2011) 0.75