Accueil › Annuaire des chercheurs › Rym Kéfi
Rym Kéfi
Affiliation : Tunis University · Institut Pasteur de Tunis · Tunis El Manar University
- 96Publications (affiliation tunisienne)
- 142Publications au total
- 1607Citations
- 23Indice h
Profil de recherche
Rym Kéfi compte 96 publications référencées (2004–2026). Ses travaux paraissent principalement dans « Bioscience Reports », « Mitochondrial DNA Part A » et « Frontiers in Genetics ». Son article le plus cité, « Consanguinity, endogamy, and genetic disorders in Tunisia » (2012), a été cité 107 fois. 13 de ces publications datent des trois dernières années d’activité. Ses travaux sont cosignés avec au moins 12 chercheurs, notamment dans des établissements de France, Inde, Royaume-Uni, Malawi.
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Créer mon profil gratuit Ajouter mes publicationsDomaines de recherche
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Forensic and Genetic Research
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Metabolism and Genetic Disorders
Publications (96)
- Integrated exome and mitochondrial genome sequencing reveals the genetic landscape of primary mitochondrial diseases: findings from a large Tunisian cohort
- Metataxonomic strategy to decipher gut bacteriome biomarkers of type 2 diabetes and obesity in Tunisian population
- Beneficial Effects of Omega-3 Fatty Acids on Obesity and Related Metabolic and Chronic Inflammatory Diseases
- A Tunisian POLG mutation expands the clinical spectrum of POLG-related disorders
- Genomic Insights into Unspecified Monogenic Forms of Diabetes and Their Associated Comorbidities: Implication for Treatment
- The Genetics and Pharmacogenetics of Diabetes in Africa: Towards Personal Diabetes Care
- The Genetics of Metabolic Syndrome in Africa: Towards Precision Medicine
- Prediction of externally visible characteristics and its role in forensic investigation
- Screening for Familial Hypercholesterolemia in Tunisia using Whole Exome Sequencing: Importance in diagnosis and healthcare management
- Genetic diversity of variants involved in drug response among Tunisian and Italian populations toward personalized medicine
- The African Human Microbiome Portal: a public web portal of curated metagenomic metadata
- Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing
- Pharmacogenetic landscape of pain management variants among Mediterranean populations
- Decoding the genetic relationship between Alzheimer’s disease and type 2 diabetes: potential risk variants and future direction for North Africa
- Gut microbiota profile and the influence of nutritional status on bacterial distribution in diabetic and healthy Tunisian subjects
- Prevalence and risk factors of diabetes mellitus and hypertension in North East Tunisia calling for efficient and effective actions
- Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management
- The first exome wide association study in Tunisia: identification of candidate loci and pathways with biological relevance for type 2 diabetes
- Genetic landscape of forensic DNA phenotyping markers among Mediterranean populations
- Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis
- Molecular Epidemiology of SARS-CoV-2 in Tunisia (North Africa) through Several Successive Waves of COVID-19
- The Role of Dietary Intake in Type 2 Diabetes Mellitus: Importance of Macro and Micronutrients in Glucose Homeostasis
- Association of HNF1A gene variants and haplotypes with metabolic syndrome: a case–control study in the Tunisian population and a meta-analysis
- Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment
- African Genomic Medicine Portal: A Web Portal for Biomedical Applications
- Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report
- A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa
- Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment
- A Review of Clinical Pharmacogenetics Studies in African Populations
- Association of rs662799 variant and APOA5 gene haplotypes with metabolic syndrome and its components: a meta-analysis in North Africa
- Gut microbiota imbalances in Tunisian participants with type 1 and type 2 diabetes mellitus
- Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing
- Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
- Thiamine responsive megaloblastic anemia mimicking mitochondrial disorders
- Pharmacogenetic landscape of Metabolic Syndrome components drug response in Tunisia and comparison with worldwide populations
- Genetic Analysis of TREM2 Variants in Tunisian Patients with Alzheimer's Disease
- Mitochondrial DNA structure of an isolated Tunisian Berber population and its relationship with Mediterranean populations
- Rapid genus identification of selected lactic acid bacteria isolated from Mugil cephalis and Oreochromis niloticus organs using MALDI-TOF
- Association Study of HNF1A Polymorphisms with Metabolic Syndrome in the Moroccan Population
- TREM2 P.Arg47His Is Not Associated With Late-Onset Alzheimer’s Disease In A Tunisian Population (P2.196)
- Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort
- Association study of HNF1A polymorphisms with metabolic syndrome in the Moroccan population
- Association of apolipoprotein A5 gene variants with metabolic syndrome in Tunisian population
- Lactase persistence in Tunisia as a result of admixture with other Mediterranean populations
- Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance
- Association of rs9939609 Polymorphism with Metabolic Parameters and FTO Risk Haplotype Among Tunisian Metabolic Syndrome
- Gender-specific associations of genetic variants with metabolic syndrome components in the Tunisian population
- On the origin of Iberomaurusians: new data based on ancient mitochondrial DNA and phylogenetic analysis of Afalou and Taforalt populations
- Novel variants of mitochondrial DNA associated with Type 2 diabetes mellitus in Moroccan population
- CO-13: Association du gène FTO au syndrome métabolique ou à ses composantes chez la population tunisienne
- Differential impact of consanguineous marriages on autosomal recessive diseases in T unisia
- Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia
- Association of genetic variants in the FTO gene with metabolic syndrome: A case-control study in the Tunisian population
- Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity
- Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population
- History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation
- Profils cliniques et génétiques de patients atteints de xeroderma pigmentosum forme-C : à propos de 64 patients tunisiens
- Association Analysis of IGF2BP2, KCNJ11, and CDKAL1 Polymorphisms with Type 2 Diabetes Mellitus in a Moroccan Population: A Case–Control Study and Meta-analysis
- Phylogeny and genetic structure of Tunisians and their position within Mediterranean populations
- Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness
- Contribution of CDKAL1 rs7756992 and IGF2BP2 rs4402960 polymorphisms in type 2 diabetes, diabetic complications, obesity risk and hypertension in the T unisian population 在突尼斯人群中，CDKAL1 rs7756992与IGF2BP2 rs4402960的多态性对2型糖尿病、糖尿病并发症、肥胖风险以及高血压的影响
- Specific Aspects of Consanguinity: Some Examples from the Tunisian Population
- Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations
- Evidence for Association of the E23K Variant ofKCNJ11Gene with Type 2 Diabetes in Tunisian Population: Population-Based Study and Meta-Analysis
- A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy
- High frequency of exon 15 deletion in the FANCA gene in T unisian patients affected with F anconi anemia disease: implication for diagnosis
- CYP1B1Gene Mutations Causing Primary Congenital Glaucoma in Tunisia
- Study of the T16189C variant and mitochondrial lineages in Tunisian and overall Mediterranean region
- A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family
- Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co‐occurrence of dominant and recessive mutations
- Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss
- E23K variant in KCNJ11 gene is associated with susceptibility to type 2 diabetes in the Mauritanian population
- Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: Implication for diagnosis in North Africa
- Type 2 diabetes in Mauritania: Prevalence of the undiagnosed diabetes, influence of family history and maternal effect
- Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome
- Association study of mitochondrial DNA polymorphisms with type 2 diabetes in Tunisian population
- The Experience of a Tunisian Referral Centre in Prenatal Diagnosis of Xeroderma pigmentosum
- Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III
- Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia
- mtDNA 16184–16193 poly-C tract does not predispose to type 2 diabetes in the Mauritanian population
- A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families
- Biotinidase deficiency: Novel mutations in Algerian patients
- Consanguinity, endogamy, and genetic disorders in Tunisia
- Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East
- High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia
- Adult gaucher disease in southern Tunisia: report of three cases
- Screening of three Mediterranean phenylketonuria mutations in Tunisian families
- Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity
- Ancient DNA investigations: A review on their significance in different research fields
- Maladie des inclusions microvillositaires à manifestation anténatale : à propos de trois observations familiales
- Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family
- Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations
- [Mitochondrial DNA: properties and applications].
- Gaucher disease in Tunisia: High frequency of the most common mutations
- Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD)
- Mitochondrial DNA Sequence Diversity in a Sedentary Population from Egypt
Revues de publication
- Bioscience Reports × 5
- Mitochondrial DNA Part A × 4
- Frontiers in Genetics × 3
- PLoS ONE × 3
- Annals of Human Genetics × 3
- Gene × 3
Publications par année
- 20262
- 20257
- 20244
- 20237
- 20225
- 20213
- 20202
- 20194
- 20186
- 20175
Collaborations
Établissements partenaires : Faculté de médecine de Tunis · Institut National de Nutrition et de Technologie Alimentaire · Hôpital La Rabta · University of Carthage · Hôpital Farhat Hached
Pays des co-auteurs : France · Inde · Royaume-Uni · Malawi
Co-auteurs
- Sonia Abdelhak
- H. Jamoussi
- Nizar Ben Halim
- Lilia Romdhane
- Meriem Hechmi
- Majdi Nagara
- Hamza Dallali
- Haifa Jmel
- Khaled Lasram
- Abdelmajid Abid
- Olfa Messaoud
- Yosra Bouyacoub
Données bibliographiques issues d’OpenAlex (base ouverte).
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