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Sahar Elouej

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
2020 · Sahar Elouej, Karim Harhouri, et al. · Nature Communications · 61
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Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)
2017 · Sahar Elouej, Ana Beleza-Meireles, et al. · Metabolism · 50
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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
2021 · Meena Balasubramanian, Alexander J. M. Dingemans, et al. · European Journal of Human Genetics · 39
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Association of rs9939609 Polymorphism with Metabolic Parameters and FTO Risk Haplotype Among Tunisian Metabolic Syndrome
2016 · Sahar Elouej, Hanen Belfki-Benali, et al. · Metabolic Syndrome and Related Disorders · 30
Association of genetic variants in the FTO gene with metabolic syndrome: A case-control study in the Tunisian population
2015 · Sahar Elouej, Majdi Nagara, et al. · Journal of Diabetes and its Complications · 24
Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing
2019 · Hamza Dallali, Serena Pezzilli, et al. · Acta Diabetologica · 23
Gender-specific associations of genetic variants with metabolic syndrome components in the Tunisian population
2016 · Sahar Elouej, Insaf Rejeb, et al. · Endocrine Research · 23
Antibody-mediated neutralization of galectin-3 as a strategy for the treatment of systemic sclerosis
2023 · Céline Ortega-Ferreira, Perrine Soret, et al. · Nature Communications · 19
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Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism
2021 · Rahma Mkaouar, Lamia Cherif Ben Abdallah, et al. · Frontiers in Genetics · 17
Association of apolipoprotein A5 gene variants with metabolic syndrome in Tunisian population
2017 · Rym Kefi, Meriem Hechmi, et al. · Annales d Endocrinologie · 16
Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype
2019 · Asma Chikhaoui, Sahar Elouej, et al. · Frontiers in Genetics · 15
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Lactase persistence in Tunisia as a result of admixture with other Mediterranean populations
2017 · Yosra Ben Halima, Rym Kefi, et al. · Genes & Nutrition · 14
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Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young
2020 · Hager Jaouadi, Yosra Bouyacoub, et al. · Herz · 12
Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins
2019 · Amira Jaballah-Gabteni, Haifa Tounsi, et al. · Journal of Translational Medicine · 12
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A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism
2014 · Lamia Cherif Ben Abdallah, Youssef Lakhoua, et al. · Hormone Research in Paediatrics · 12
High-Content Multimodal Analysis Supports the IL-7/IL-7 Receptor Axis as a Relevant Therapeutic Target in Primary Sjögren's Syndrome
2023 · Emiko Desvaux, Patrice Hemon, et al. · Journal of Autoimmunity · 11
A Rare MSH2 Variant as a Candidate Marker for Lynch Syndrome II Screening in Tunisia: A Case of Diffuse Gastric Carcinoma
2022 · Maria Kabbage, Jihenne Ben Aissa-Haj, et al. · Genes · 8
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Association of HNF1A gene variants and haplotypes with metabolic syndrome: a case–control study in the Tunisian population and a meta-analysis
2022 · Hamza Dallali, Meriem Hechmi, et al. · Diabetology & Metabolic Syndrome · 8
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FANCA Gene Mutations in North African Fanconi Anemia Patients
2021 · Abir Ben Haj Ali, Olfa Messaoud, et al. · Frontiers in Genetics · 8
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Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance
2017 · Majdi Nagara, Gregory Papagregoriou, et al. · European Journal of Medical Genetics · 8
The Potential of Induced Pluripotent Stem Cells to Test Gene Therapy Approaches for Neuromuscular and Motor Neuron Disorders
2021 · Marisa Cappella, Sahar Elouej, et al. · Frontiers in Cell and Developmental Biology · 7
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Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype
2021 · Imen Nabouli, Asma Chikhaoui, et al. · Frontiers in Genetics · 4
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Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family
2020 · Cherine Charfeddine, Hamza Dallali, et al. · Journal of Human Genetics · 4
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome
2018 · Nehla Ghedira, Arnaud Lagarde, et al. · BMC Pediatrics · 4
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A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family
2014 · MAJDI NAGARA, KONSTANTINOS VOSKARIDES, et al. · Journal of Genetics · 4
Works count: 63
Citation count: 439
H-index: 12
I10-index: 16
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