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Author

Chérine Charfeddine

Observed names: C Charfeddine, C. Charfeddine, Charfeddine Cherine, Charfeddine, Cherine, Cherine Charfeddine
ORCID: 0000-0002-4656-2661
Observed ORCID: 0000-0002-4656-2661
OpenAlex ID: A5027889523
Original articles
2003 · C. Charfeddine, M. Mokni, et al. · British Journal of Dermatology · 49
Clinical and Mutational Heterogeneity of Darier Disease in Tunisian Families
2009 · Mbarka Bchetnia, Cherine Charfeddine, et al. · Archives of Dermatology · 29
Particular Mal de Meleda Phenotypes in Tunisia and Mutations Founder Effect in the Mediterranean Region
2013 · Mbarka Bchetnia, Nadia Laroussi, et al. · BioMed Research International · 27
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Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: Identification and structural characterization of two novel TAT mutations
2006 · C. Charfeddine, K. Monastiri, et al. · Molecular Genetics and Metabolism · 25
Heterozygous manifestations in female carriers of Mal de Meleda
2004 · M Mokni, C Charfeddine, et al. · Clinical Genetics · 24
Immunohistological study of involucrin expression in Darier's disease skin
2008 · Selma Kassar, Cherine Charfeddine, et al. · Journal of Cutaneous Pathology · 23
Comorbidity in the Tunisian population
2015 · L. Romdhane, O. Messaoud, et al. · Clinical Genetics · 18
Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region
2006 · Cherine Charfeddine, Mourad Mokni, et al. · Journal of Human Genetics · 17
Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved
2021 · Nessrine Mezzi, Olfa Messaoud, et al. · Genes · 15
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Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis
2007 · E. Barkaoui, W. Cherif, et al. · Journal of Inherited Metabolic Disease · 15
Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner–Hanhart Syndrome
2013 · Yosra Bouyacoub, Hela Zribi, et al. · Gene · 14
Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports
2010 · Mbarka Bchetnia, Ahlem Merdassi, et al. · Journal of Medical Case Reports · 14
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Genome Tunisia Project: paving the way for precision medicine in North Africa
2024 · Yosr Hamdi, Mediha Trabelsi, et al. · Genome Medicine · 13
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A regionally based precision medicine implementation initiative in North Africa:The PerMediNA consortium
2024 · Yosr Hamdi, Maroua Boujemaa, et al. · Translational Oncology · 12
Disorders of Keratinization
2021 · Asmahane Souissi, Nourchène Toukabri, et al. · Springer eBooks · 12
Hailey‐Hailey disease in Tunisia
2010 · R. Benmously‐Mlika, M. Bchetnia, et al. · International Journal of Dermatology · 12
Enriching African genome representation through the AGenDA project
2026 · M. Ramsay, H. Etheredge, et al. · Nature · 10
Clinical and molecular investigation of Buschke‐Fischer‐Brauer in consanguineous Tunisian families
2016 · C. Charfeddine, C. Ktaifi, et al. · Journal of the European Academy of Dermatology and Venereology · 9
New mutations of Darier disease in Tunisian patients
2009 · Mbarka Bchetnia, Rym Benmously, et al. · Archives of Dermatological Research · 9
Histological characterization of Darier's disease in Tunisian families
2009 · S Kassar, H Tounsi‐Kettiti, et al. · Journal of the European Academy of Dermatology and Venereology · 9
Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis
2021 · Cherine Charfeddine, Nadia Laroussi, et al. · PLoS ONE · 8
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Clinical, histological and genetic investigation of Buschke–Fischer–Brauer's disease in Tunisian families
2009 · Mbarka Bchetnia, Cherine Charfeddine, et al. · Journal of Dermatological Science · 8
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment
2021 · Rahma Mkaouar, Zied Riahi, et al. · PLoS ONE · 7
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Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis
2008 · Houyem Ouragini, Faïka Cherif, et al. · Archives of Dermatological Research · 7
Clinical and Genetic Investigation of Atrial Septal Defect with Atrioventricular Conduction Defect in a Large Consanguineous Tunisian Family
2008 · Sonia Nouira, Ikram Kamoun, et al. · Archives of Medical Research · 7
Works count: 51
Citation count: 433
H-index: 13
I10-index: 17
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