Mona Aglan

National Research Centre — Egypt

Biochemistry, Genetics and Molecular Biology · Life Sciences

33h-index4.1kcitations120works0.52yr avg
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Research Topics

Connective tissue disorders research(32), Genomic variations and chromosomal abnormalities(15), Bone and Dental Protein Studies(13), Hedgehog Signaling Pathway Studies(11), Prenatal Screening and Diagnostics(9)

Publications120 total

Novel Homozygous DLX5 and WNT10B Variants Expand the Genetic and Phenotypic Spectrum of Autosomal Recessive Split-Hand/Foot Malformations (SHFM1D and SHFM6).
PubMed·2026
Genetic insights and therapeutic implications in Egyptian patients with Fabry Disease
Egyptian Pharmaceutical Journal·2025Open Access
Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients
Scientific Reports·2025Open Access
Mutation Analysis of the Iduronate-2-Sulfatase Gene among Egyptian Patients with Hunter Syndrome
Middle East Journal of Medical Genetics·2025Open Access
COL1-related overlap disorder: An emerging phenotype linked to mono- and bi-allelic COL1A1/2 variants
Archives of Oral Biology·2025· 1 citedOpen Access
Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia
Journal of Human Genetics·2025· 1 citedOpen Access
Management of mucopolysaccharidosis type I using enzyme replacement therapy: Egyptian experience
Egyptian Journal of Medical Human Genetics·2025Open Access
Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva
Clinical Dysmorphology·2025
STRATIFYING RISK FOR LONG COVID IN PATIENTS WITH IMMUNODEFICIENCY
Annals of Allergy Asthma & Immunology·2024
DEVELOPMENT OF A COMPUTABLE PHENOTYPE FOR INBORN ERRORS OF IMMUNITY: A MACHINE LEARNING APPROACH
Annals of Allergy Asthma & Immunology·2024Open Access
Recent Advances in Cytogenomics for Genetic Diagnosis in the Center of Excellence for Human Genetics in Egypt
Middle East Journal of Medical Genetics·2024
Muccopolysaccharidosis Type II, Two Novel Mutations
Middle East Journal of Medical Genetics·2024
MLPA Based Detection of Copy Number Variations in Pediatric Patients with Global Developmental Delay/ Intellectual Disability
Middle East Journal of Medical Genetics·2024Open Access
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
Journal of Medical Genetics·2024· 5 citedOpen Access
Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature
Journal of Genetic Engineering and Biotechnology·2024· 1 citedOpen Access
Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants
Middle East Journal of Medical Genetics·2024
Management of MPS-I using ERT: The Egyptian experience
2023Open Access
A recurrent <scp><i>KCNK4</i></scp> variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: <scp>Variable</scp> phenotypic expressivity and insights on patients' dental management
American Journal of Medical Genetics Part A·2023· 3 cited
Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia
American Journal of Medical Genetics Part A·2023· 3 cited
<scp><i>CHST3</i></scp>‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum
American Journal of Medical Genetics Part A·2023· 2 cited
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Frequent Co-authors

Samia A. Temtamy(45), Ghada A. Otaify(17), Víctor L. Ruiz‐Pérez(16), Maha S. Zaki(15), Pablo Lapunzina(15), Ghada M. H. Abdel‐Salam(10), José A. Caparrós‐Martín(9), Eulalia Valencia(9), Khalda Amr(8), Samira Ismail(8), Adel M. Ashour(8), Víctor Martínez‐Glez(7), Mohamed S. Abdel‐Hamid(5), Mahmoud Y. Issa(5), Hanan Hamamy(4), Bernd Wollnik(4), Jair Tenorio(4), Mona El Gammal(4), Julián Nevado(4), Laila Hosny(4)