Mona L. Essawi

National Research Centre — Egypt

Biochemistry, Genetics and Molecular Biology · Life Sciences

11h-index511citations65works1.32yr avg
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Research Topics

Sexual Differentiation and Disorders(13), Lysosomal Storage Disorders Research(7), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities(7), Hormonal and reproductive studies(7), RNA modifications and cancer(7)

Publications65 total

Clinical Utility of Genetic Diagnosis in Drug‐Resistant Epilepsy: Refining Classification and Guiding Therapy in an Egyptian Cohort
Clinical Genetics·2026Open Access
Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients
Scientific Reports·2025Open Access
Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis
Documenta Ophthalmologica·2025· 1 citedOpen Access
Comparative Analysis of Three Methods to Produce Diagnostic FISH Probes: Nick Translation, PCR Amplification and Chromosome Microdissection
Egyptian Pharmaceutical Journal·2025
Mutation Analysis of the Iduronate-2-Sulfatase Gene among Egyptian Patients with Hunter Syndrome
Middle East Journal of Medical Genetics·2025Open Access
ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant
Scientific Reports·2025Open Access
A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy
Orphanet Journal of Rare Diseases·2025Open Access
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing
Clinical Genetics·2025· 1 cited
Author response for "Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing"
2025
Whole exome sequencing diagnosing syndromic and non-syndromic hearing loss with expansion of the phenotypic spectrum related to TMC1 variants
European Journal of Pediatrics·2025· 1 citedOpen Access
Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa
Ophthalmic Genetics·2025· 2 cited
Novel variant in WT1 gene associated with MGD and unique kidney disease phenotype
Journal of Rare Diseases·2025Open Access
Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients
Journal of Molecular Neuroscience·2024· 1 citedOpen Access
Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy
Journal of Molecular Neuroscience·2024· 1 citedOpen Access
Muccopolysaccharidosis Type II, Two Novel Mutations
Middle East Journal of Medical Genetics·2024
Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
Science Translational Medicine·2024· 12 citedOpen Access
Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II
HORMONES·2024· 4 citedOpen Access
Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants
Middle East Journal of Medical Genetics·2024
Clinical and molecular spectrum of a large Egyptian cohort with <scp> <i>ALS2</i> </scp> ‐related disorders of infantile‐onset of clinical continuum <scp>IAHSP</scp> / <scp>JPLS</scp>
Clinical Genetics·2023· 2 citedOpen Access
MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients
Egyptian Journal of Medical Human Genetics·2022· 6 citedOpen Access
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Frequent Co-authors

Heba Hassan(20), Inas Mazen(17), Mona K. Mekkawy(14), Nagham M. Elbagoury(13), Wessam E. Sharaf‐Eldin(10), Yehia Z. Gad(9), Maha S. Zaki(8), Alaa K. Kamel(8), Mohamed S. Abdel‐Hamid(6), Ken McElreavey(5), Mona El‐Ruby(5), Mahmoud Y. Issa(5), Samia A. Temtamy(5), Noura R. Eissa(5), Ekram Fateen(5), Amal M. Mohamed(4), Hala Soliman(4), Aya Elaidy(4), Mona Aglan(4), Engy A. Ashaat(4)