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S. Dimassi
Affiliation : Hôpital Farhat Hached · University of Sousse
- 25Publications (affiliation in Tunisia)
- 43Total publications
- 444Citations
- 10h-index
Research profile
S. Dimassi has 25 indexed publications (2010–2026). Their work appears mainly in “Early Human Development”, “Research Square” and “Annales d Endocrinologie”. Their most cited article, “Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome” (2015), has been cited 84 times. 2 of these publications date from the last three years of activity. Their work is co-authored with at least 12 researchers, including institutions in France.
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Create my free profile Add my publicationsResearch areas
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetics and Neurodevelopmental Disorders
- Sexual Differentiation and Disorders
Publications (25)
- Clinical and genomic characterization of corpus callosum abnormalities (CCA) in 107 Tunisian patients using a stepwise diagnostic approach
- Toward autism spectrum disorders and Williams-Beuren syndrome co-occurrence condition in Tunisian patients: Genetic insights
- Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development
- Le profil socio-démographique dans le syndrome de Turner à l’âge adulte
- 58P Molecular investigation using microarray-based comparative genomic hybridization in patients with myelodysplastic syndrome and normal karyotype
- Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review
- X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
- X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
- Genotype-phenotype correlations for the type 1 lissencephaly of eight Tunisian children
- X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
- Autism in patients with Williams-Beuren syndrome: A re-evaluation of 31 Tunisian patients’ phenotype
- 45, X/47, XY, +13 MOSAICISM IN A 15-YEAR-OLD GIRL
- Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype
- Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
- Déficit en hormone de croissance chez des filles turnérienne : à propos de 4 cas
- New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family
- Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea
- Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome
- Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA
- 732 Turner Syndrome: A Clinico-Cytogenetic Study of 37 Children
- 736 Clinical and Cytogenetic Study in 116 Children Cohort with Sexual Ambiguity
- PP-196. The derivative 22 syndrome: A case report
- PP-198. Isochromosome 18q: A cytogenetic study
- PP-200. The antenatal diagnosis of chromosomal abnormalities: A Tunisian study about 10,944 cases
- PP-195. Supernumerary marker chromosome: A study about 47 perinatal cases
Publication venues
- Early Human Development × 4
- Research Square × 3
- Annales d Endocrinologie × 2
- Molecular Cytogenetics × 2
- Fertility and Sterility × 2
- Archives of Disease in Childhood × 2
Publications per year
- 20261
- 20241
- 20233
- 20227
- 20201
- 20191
- 20181
- 20171
- 20161
- 20152
Collaborations
Partner institutions : Hospices Civils de Lyon · University of Monastir · Lyon 1 Université · Centre National de la Recherche Scientifique · Hospital Fatuma Bourguiba Monastir
Co-authors’ countries : France
Co-authors
- Soumaya Mougou-Zerelli
- Molka Kammoun
- Ali Saâd
- Wafa Slimani
- Hatem Elghezal
- Ayda Bennour
- Khouloud Rjiba
- Ali Saad
- Hela Ben Khelifa
- Imen Ben Hadj Hmida
- M. Kacem
- Afef Jelloul
Bibliographic data from OpenAlex (open database).
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