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Imen Rejeb

Observed names: I Rejeb, I. Rejeb, Imen REJEB, Imène Rejeb, Rejeb, Imen
ORCID: 0000-0002-2826-1910
Observed ORCID: 0000-0002-2826-1910
OpenAlex ID: A5102707337
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features
2008 · Imen Rejeb, Yoann Saillour, et al. · European Journal of Human Genetics · 54
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
2015 · Julia Lauer Zillhardt, Karine Poirier, et al. · European Journal of Human Genetics · 41
X linked mental retardation.
2009 · Imen Rejeb, Lamia Ben Jemaa, et al. · PubMed · 33
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
2017 · Imen Rejeb, Houweyda Jilani, et al. · BMC Medical Genetics · 23
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The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly
2011 · Manèl Chograni, Imen Rejeb, et al. · European Journal of Human Genetics · 23
A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation
2011 · Imen Rejeb, Lamia Ben Jemaa, et al. · European Journal of Medical Genetics · 20
Genome Tunisia Project: paving the way for precision medicine in North Africa
2024 · Yosr Hamdi, Mediha Trabelsi, et al. · Genome Medicine · 16
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Y chromosome microdeletions in Tunisian infertile males
2007 · I. Rejeb, R. M’rad, et al. · Pathologie Biologie · 15
Enriching African genome representation through the AGenDA project
2026 · M. Ramsay, H. Etheredge, et al. · Nature · 11
New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene
2021 · Imen Rejeb, Mouna Jerbi, et al. · BMC Medical Genomics · 11
A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report
2022 · Houweyda Jilani, Faten Hsoumi, et al. · Clinical Case Reports · 4
Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature
2021 · Hela Sassi, Yasmina Elaribi, et al. · Molecular Genetics & Genomic Medicine · 4
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MLPA Subtelomere Analysis in Tunisian Mentally Retarded Patients
2009 · Lamia Hila, Hédia Tébourbi, et al. · Biochemical Genetics · 4
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy
2026 · Michelle Clince, Elhussein A.E. Elhassan, et al. · Kidney International · 3
Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities
2022 · Ali Al Kaissi, Sergey Ryabykh, et al. · Diagnostics · 3
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Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3
2023 · Syrine Hizem, Rym Maamouri, et al. · Ophthalmic Genetics · 2
Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing
2020 · Syrine Hizem, Yasmina Elaribi, et al. · Clinica Chimica Acta · 2
A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1
2022 · Rym Maamouri, Syrine Hizem, et al. · Ophthalmic Genetics · 1
The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study
2021 · Mohammad Shboul, Hela Sassi, et al. · AIMS molecular science · 1
Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients
2026 · Amal Abdmouleh, Houweyda Jilani, et al. · Clinical Genetics
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Toward a Tunisian genetic mapping of idiopathic pulmonary fibrosis
2026 · senda derouiche, Houda Snène, et al. · European Respiratory Journal
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy
2026 · Clince, Michelle, Elhussein, Elhassan, et al. · Zenodo (CERN European Organization for Nuclear Research)
The arthrogryposis - renal dysfunction - cholestasis syndrome: A case report
2024 · A. Abd Mouleh, H. Jilani, et al. · Clinica Chimica Acta
Progressive familial intrahepatic cholestasis type 3 or neonatal sclerosing cholangitis? about four Tunisian families
2024 · A. Abd Mouleh, H. Jilani, et al. · Clinica Chimica Acta
Cinical and genetic profile of syndromic epilepsies in a series of tunisian patients: contribution of exome sequencing
2024 · Feriel Agrebi, KAROUI, Sana, et al.
Works count: 30
Citation count: 271
H-index: 10
I10-index: 10
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