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List of works by Ambroise Wonkam

"Pain is Subjective": A Mixed-Method Study of Provider Attitudes and Practices Regarding Pain Management in Sickle Cell Disease across Three Countries

scientific article published on 01 September 2020

A Genomic and Protein-Protein Interaction Analyses of Nonsyndromic Hearing Impairment in Cameroon Using Targeted Genomic Enrichment and Massively Parallel Sequencing.

scientific article published on 11 January 2017

A Global Health Diagnostic for Personalized Medicine in Resource-Constrained World Settings: A Simple PCR-RFLP Method for Genotyping CYP2B6 g.15582C>T and Science and Policy Relevance for Optimal Use of Antiretroviral Drug Efavirenz

scientific article published on June 2015

A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

scientific article published in 2021

A call for policy action in sub-Saharan Africa to rethink diagnostics for pregnancy affected by sickle cell disease: differential views of medical doctors, parents and adult patients predict value conflicts in Cameroon

scientific article

A comprehensive survey of models for dissecting local ancestry deconvolution in human genome

scholarly article by Ephifania Geza published in June 2018

A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana

scientific article published in 2022

A novel variant in <i>DMXL2</i> gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family

scientific article published on 09 March 2021

A systematic review of known mechanisms of hydroxyurea-induced fetal hemoglobin for treatment of sickle cell disease

scientific article published on September 2015

Acceptability of Prenatal Diagnosis by a Sample of Parents of Sickle Cell Anemia Patients in Cameroon (Sub‐Saharan Africa) ⬇️

scientific article published on May 21, 2011

Acceptance of abortion by doctors and medical students in Cameroon

scientific article published on 01 June 2007

Advances in Therapeutic Targeting of Cancer Stem Cells within the Tumor Microenvironment: An Updated Review

scientific article published on 13 August 2020

Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa).

scientific article published on 17 October 2012

African Lettuce (Launaea taraxacifolia) Displays Possible Anticancer Effects and Herb-Drug Interaction Potential by CYP1A2, CYP2C9, and CYP2C19 Inhibition

scientific article published on September 2016

Age Estimate of GJB2-p.(Arg143Trp) Founder Variant in Hearing Impairment in Ghana, Suggests Multiple Independent Origins across Populations

scientific article published in 2022

An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine

scientific article published on 16 September 2016

An Open Letter in Support of Transformative Biotechnology and Social Innovation: SANKO University Innovation Summit in Medicine and Integrative Biology, Gaziantep, Turkey, May 5-7, 2016.

scientific article published in April 2016

Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?

scientific article published in June 2011

Association between Variants at BCL11A Erythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic Interventions

scientific article

Association of Genetic Polymorphisms of TGF-β1, HMOX1, and APOL1 With CKD in Nigerian Patients With and Without HIV

scientific article published on 27 April 2020

Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon

scientific article

Beta-globin gene haplotypes among cameroonians and review of the global distribution: is there a case for a single sickle mutation origin in Africa?

scientific article

Beyond the Caster Semenya controversy: the case of the use of genetics for gender testing in sport

scientific article published on 8 September 2010

Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment

scientific article published on 23 October 2020

Biomedical research, a tool to address the health issues that affect African populations

scientific article

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

scientific article published on 23 March 2020

Bush mint (Hyptis suaveolens) and spreading hogweed (Boerhavia diffusa) medicinal plant extracts differentially affect activities of CYP1A2, CYP2D6 and CYP3A4 enzymes

scientific article published on 20 September 2017

CYP1A2, CYP2A6, CYP2B6, CYP3A4 and CYP3A5 Polymorphisms in Two Bantu-Speaking Populations from Cameroon and South Africa: Implications for Global Pharmacogenetics

article

Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa)

scientific article published on 28 January 2020

Cell-based analysis of CLIC5A and SLC12A2 variants associated with hearing impairment in two African families

scientific article published in 2022

Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon

scientific article

Chemoresistance to Cancer Treatment: Benzo-α-Pyrene as Friend or Foe?

scientific article published on 17 April 2018

Childhood Hearing Impairment in Senegal

scientific article published in 2023

Clinical and genetic factors are associated with pain and hospitalisation rates in sickle cell anaemia in Cameroon

scientific article published on 3 December 2017

Clinical and genetic predictors of renal dysfunctions in sickle cell anaemia in Cameroon

scientific article published on 3 May 2017

Clinical characteristics and outcomes of familial and idiopathic dilated cardiomyopathy in Cape Town: a comparative study of 120 cases followed up over 14 years.

scientific article published on 25 May 2011

Clinical characteristics and risk factors of relative systemic hypertension and hypertension among sickle cell patients in Cameroon

scientific article published in 2022

Coinheritance of sickle cell anemia and α-thalassemia delays disease onset and could improve survival in Cameroonian's patients (Sub-Saharan Africa).

scientific article published on 10 April 2014

Competency-based Training Needs Assessment for Research Managers and Administrators in Africa and the United Kingdom to Strengthen Equitable Partnerships

scientific article published in 2022

Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations

scientific article

Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden

scientific article published on 28 October 2020

Cornelia de Lange syndrome in diverse populations

scientific article published on 06 January 2019

Cover Image, Volume 173A, Number 9, September 2017.

scientific article published in September 2017

Cover Image, Volume 176A, Number 5, May 2018

scholarly article published on 21 April 2018

Current needs for human and medical genomics research infrastructure in low and middle income countries

scientific article published on 06 January 2016

Cytochrome P450 pharmacogenetics in African populations: implications for public health

scientific article published on 03 March 2014

DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles

scientific article published on 15 June 2020

Dissecting in silico Mutation Prediction of Variants in African Genomes: Challenges and Perspectives

scientific article published on 25 June 2019

Do solidarity and reciprocity obligations compel African researchers to feedback individual genetic results in genomics research?

scientific article published on 04 November 2020

Effects of vaccines in patients with sickle cell disease: a systematic review protocol

scientific article published on 25 March 2018

Enhancing Genetic Medicine: Rapid and Cost-Effective Molecular Diagnosis for a GJB2 Founder Mutation for Hearing Impairment in Ghana

scientific article published on 27 January 2020

Establishing a Multi-Country Sickle Cell Disease Registry in Africa: Ethical Considerations

scientific article published on 10 October 2019

Establishing a Sickle Cell Disease Registry in Africa: Experience From the Sickle Pan-African Research Consortium, Kumasi-Ghana

scientific article published on 24 February 2022

Ethics of human genetic studies in sub-saharan Africa: the case of Cameroon through a bibliometric analysis ⬇️

scientific article published on July 22, 2011

Etiologies of Childhood Hearing Impairment in Schools for the Deaf in Mali

scientific article published in 2021

Examining Experiences of Acute and Chronic Pain Among Individuals with Sickle Cell Disease (SCD) in Jamaica and Cameroon

scientific article published in 2021

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

scientific article published on 19 April 2022

Explanatory models for the cause of Fragile X Syndrome in rural Cameroon

scientific article published in 2021

Exploring the Role of Shared Decision Making in the Consent Process for Pediatric Genomics Research in Cameroon, Tanzania, and Ghana

scientific article published on 01 July 2019

Features of Turner syndrome among a group of Cameroonian patients

scientific article published on 9 February 2015

Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection

scientific article published in 2021

Frequencies of Single Nucleotide Polymorphisms in Cytochrome P450 Genes (CYP1A2, 2A6, 2B6, 3A4 and 3A5) in a Rwandan Population: Difference to Other African Populations

article

Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: implications for the evaluation of patients with unexplained cardiomyopathy

scientific article published on 25 May 2011

Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment

scientific article published in 2021

GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal

scientific article published in 2022

GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon

scientific article published on 25 October 2019

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

scientific article published on 18 September 2019

GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana

scientific article published on 11 June 2020

Genetic Determinants of Dyslipidemia in African-Based Populations: A Systematic Review

scientific article published on 01 December 2018

Genetic modifiers of long-term survival in sickle cell anemia

scientific article published on 01 August 2020

Genetic variation in toll like receptors 2, 7, 9 and interleukin-6 is associated with cytomegalovirus infection in late pregnancy

scientific article published on 25 May 2020

Genetics of Sickle Cell-Associated Cardiovascular Disease: An Expert Review with Lessons Learned in Africa

scientific article

Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward

scientific article

Genomic Medicine Without Borders: Which Strategies Should Developing Countries Employ to Invest in Precision Medicine? A New "Fast-Second Winner" Strategy

scientific article published in November 2017

Genomic medicine in Africa: promise, problems and prospects

scientific article published on 24 February 2014

Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa

research work

Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment

scientific article published in 2023

Hearing Impairment Overview in Africa: the Case of Cameroon

scientific article published on 22 February 2020

Hearing Impairment in South Africa and the Lessons Learned for Planetary Health Genomics: A Systematic Review

scientific article published in 2022

Hearing loss and brain disorders: A review of multiple pathologies

scientific article published in 2021

Hearing loss in Africa: current genetic profile

scientific article published in 2021

Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome

scientific article

Hydroxyurea down-regulates BCL11A, KLF-1 and MYB through miRNA-mediated actions to induce γ-globin expression: implications for new therapeutic approaches of sickle cell disease

scientific article published on 7 April 2016

Hydroxyurea-Induced miRNA Expression in Sickle Cell Disease Patients in Africa.

scientific article

IHP-PING-generating integrated human protein-protein interaction networks on-the-fly

scientific article published on 31 October 2020

Implementing Artificial Intelligence and Digital Health in Resource-Limited Settings? Top 10 Lessons We Learned in Congenital Heart Defects and Cardiology

scientific article published on 08 October 2019

In Vitro Reversible and Time-Dependent CYP450 Inhibition Profiles of Medicinal Herbal Plant Extracts Newbouldia laevis and Cassia abbreviata: Implications for Herb-Drug Interactions.

scientific article published on 7 July 2016

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

scientific article

Inauguration of the cameroonian society of human genetics.

scientific article

Inhibition of CYP2B6 by Medicinal Plant Extracts: Implication for Use of Efavirenz and Nevirapine-Based Highly Active Anti-Retroviral Therapy (HAART) in Resource-Limited Settings.

scientific article

Initiation of a medical genetics service in sub-Saharan Africa: Experience of prenatal diagnosis in Cameroon ⬇️

scientific article published on April 5, 2011

Initiation of prenatal genetic diagnosis of chromosomal anomalies in Cameroon ⬇️

scientific article published on November 9, 2011

Initiation of prenatal genetic diagnosis of sickle cell anaemia in Cameroon (sub‐Saharan Africa) ⬇️

scientific article published on October 26, 2011

Introducing in AJMG Part A: Case reports in diverse populations

scientific article published on 01 July 2018

Investigating the missing heritability of foetal haemoglobin level in Africa

scientific article published on 23 October 2020

Investigations of Kidney Dysfunction-Related Gene Variants in Sickle Cell Disease Patients in Cameroon (Sub-Saharan Africa)

scientific article published in 2021

Is there a role for pharmacogenetics in the treatment of sickle cell disease?

scientific article published on 17 February 2017

Knowledge and Challenges Associated With Hearing Impairment in Affected Individuals From Cameroon (Sub-Saharan Africa)

scientific article published in 2021

Knowledge and attitudes concerning medical genetics amongst physicians and medical students in Cameroon (sub-Saharan Africa)

scientific article published on 01 June 2006

Letter to the editor regarding "GJB2, GJB6 or GJA1 genes should not be investigated in routine in non syndromic deafness in people of sub-Saharan African descent".

scientific article

Lived Experiences of Fragile X Syndrome Caregivers: A Scoping Review of Qualitative Studies

scientific article published on 27 February 2020

Low hepatitis B vaccine uptake among surgical residents in Cameroon

scientific article published on 14 March 2014

MECP2 duplication syndrome in a patient from Cameroon

scientific article published on 13 February 2020

Management of neural tube defects in a Sub-Saharan African country: the situation in Yaounde, Cameroon

scientific article published on 15 August 2008

Negotiating political power and stigma around fragile X Syndrome in a rural village in Cameroon: A tale of a royal family and a community

scientific article published in 2021

Neurological Complications in Subjects With Sickle Cell Disease or Trait: Genetic Results From Mali

scientific article published in April 2017

New mutations predict clinical manifestation of complex traits

scientific article published in 2022

Noonan Syndrome in South Africa: Clinical and Molecular Profiles

article

Noonan syndrome in diverse populations.

scientific article

Perceptions of parents of children with hearing loss of genetic origin in South Africa

scientific article published on 21 November 2018

Personalized Herbal Medicine? A Roadmap for Convergence of Herbal and Precision Medicine Biomarker Innovations

article

Perspectives in Genetics and Sickle Cell Disease Prevention in Africa: Beyond the Preliminary Data from Cameroon

scientific article

Pharmacogenomics Implications of Using Herbal Medicinal Plants on African Populations in Health Transition

scientific article

Polymorphism at BCL11A compared to HBS1L-MYB loci explains less of the variance in HbF in patients with sickle cell disease in Cameroon

scientific article

Post genome-wide association analysis: dissecting computational pathway/network-based approaches

scientific article published on 26 April 2018

Prenatal diagnosis and termination of pregnancy: perspectives of South African parents of children with Down syndrome ⬇️

scientific article published on October 25, 2012

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

scientific article published on 01 August 2006

Proceedings of a Sickle Cell Disease Ontology workshop - Towards the first comprehensive ontology for Sickle Cell Disease

scientific article published on 15 March 2016

Psychosocial burden of sickle cell disease on parents with an affected child in Cameroon

scientific article published on 24 July 2013

Psychosocial stressors of sickle cell disease on adult patients in Cameroon

scientific article published on 21 February 2014

Public Health Burden of Hearing Impairment and the Promise of Genomics and Environmental Research: A Case Study in Ghana, Africa

scientific article published in November 2017

Ready to put metadata on the post-2015 development agenda? Linking data publications to responsible innovation and science diplomacy

scientific article published in January 2014

Relation Between Religious Perspectives and Views on Sickle Cell Disease Research and Associated Public Health Interventions in Ghana

article

Report on the 6th African Society of Human Genetics (AfSHG) Meeting, March 12-15, 2009, Yaounde, Cameroon

scientific article (publication date: August 2010)

Research capacity. Enabling the genomic revolution in Africa

scientific article published in June 2014

Returning incidental findings in African genomics research

scientific article published on 01 January 2020

SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon

scientific article

Science must overcome its racist legacy: Nature’s guest editors speak ⬇️

scientific article published on 8 June 2022

Screening for GJB2-R143W-Associated Hearing Impairment: Implications for Health Policy and Practice in Ghana

scientific article published on 10 December 2020

Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans

scientific article

Sickle Cell Disease

scientific article published on 01 July 2017

Sickle cell disease and H3Africa: enhancing genomic research on cardiovascular diseases in African patients

scientific article

Sickle cell disease in Africa: an urgent need for longitudinal cohort studies

scientific article published on 23 August 2019

Sickle cell disease, sickle trait and the risk for venous thromboembolism: a systematic review and meta-analysis

scholarly article by Jean Jacques Noubiap et al published 2018 in Thrombosis journal

Sickle cell disease: tipping the balance of genomic research to catalyse discoveries in Africa

scholarly article

SickleInAfrica

scientific article published on 01 February 2020

Skills Capacity Building For Health Care Services and Research Through the Sickle Pan African Research Consortium

scientific article published in 2022

Stakeholder Perspectives on Public Health Genomics Applications for Sickle Cell Disease: A Methodology for a Human Heredity and Health in Africa (H3Africa) Qualitative Research Study.

scientific article

Stigma in African genomics research: Gendered blame, polygamy, ancestry and disease causal beliefs impact on the risk of harm

scientific article published on 30 May 2020

Stroke may appear to be rare in Saudi-Arabian and Nigerian children with sickle cell disease, but not in Cameroonian sickle cell patients

scientific article published in April 2006

Studies of novel variants associated with Hb F in Sardinians and Tanzanians in sickle cell disease patients from Cameroon.

scientific article published on 10 November 2016

Success stories in genomic medicine from resource-limited countries

scientific article published on 18 June 2015

Systematic Review of the Economic Evaluation of Returning Incidental Findings in Genomic Research

The 22q11.2 Deletion Syndrome in Congenital Heart Defects: Prevalence of Microdeletion Syndrome in Cameroon.

scientific article

The Genetics of Warfarin Dose-Response Variability in Africans: An Expert Perspective on Past, Present, and Future

article

The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research

scientific article published on 21 November 2019

The Role of Tumor Microenvironment in Chemoresistance: 3D Extracellular Matrices as Accomplices

scientific article published on 20 September 2018

The Sickle Cell Disease Ontology: Enabling Collaborative Research and Co-Designing of New Planetary Health Applications

scientific article published on 01 October 2020

The Sickle Cell Disease Ontology: recent development and expansion of the universal sickle cell knowledge representation

scientific article published on 16 March 2022

The burden of sickle cell disease in Cape Town

scientific article published on 28 June 2012

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

scientific article

The road ahead in genetics and genomics

scientific article published on 24 August 2020

The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study

scientific article published in July 2004

Translating biotechnology to knowledge-based innovation, peace, and development? Deploy a Science Peace Corps--an open letter to world leaders

scientific article

Treatment for sickle cell disease in Africa: should we invest in haematopoietic stem cell transplantation?

scientific article

Turner syndrome in diverse populations

scientific article published on 19 December 2019

UCT’s contribution to medical genetics in Africa - from the past into the future ⬇️

scientific article published on 02 March 2012

Urethral duplication in a 12-year-old child

scientific article published in September 2011

Urinary Transforming Growth Factor-Beta 1 (uTGF-β1) and Prevalent CKD Risk in HIV-Positive Patients in West Africa

scientific article published on 27 July 2019

Variants of <scp><i>LRP2</i></scp>, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy

scientific article published in 2023

Waardenburg syndrome in childhood deafness in Cameroon

scientific article published in 2014

Warfarin Dose and CYP2C Gene Cluster: An African Ancestral-Specific Variant Is a Strong Predictor of Dose in Black South African Patients

scientific article published on 19 December 2018

Whole Exome Sequencing Reveals Pathogenic Variants in MYO3A, MYO15A and COL9A3, and Differential Frequencies in Ancestral Alleles in Hearing Impairment Genes Among Individuals from Cameroon

scientific article published on 20 October 2020

Whole exome sequencing identifies rare coding variants in novel human-mouse ortholog genes in African individuals diagnosed with non-syndromic hearing impairment

scientific article published on 30 September 2020

Williams–Beuren syndrome in diverse populations

scientific article published in May 2018

Would you terminate a pregnancy affected by sickle cell disease? Analysis of views of patients in Cameroon

scientific article

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