Sara H Eldessouky

9PUBLICATIONS
42CO-AUTHORS
Cancer geneticsMolecular evolutionEpigenetics (incl. genome methylation and epigenomics)Proteomics and intermolecular interactions (excl. medical proteomics)Gene mapping
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Publications (9)

|Oct 15, 2025
Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes.

Ghada Elhady, Asmaa K Amin, Asier Iturrate

|May 19, 2025
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Niccolò E Mencacci, Georgia Minakaki, Reza Maroofian

|Feb 01, 2025
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.

Sara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar

|Jan 07, 2025
Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.

Ahmed K Saad, Nagwa H Hassan, Hala N Soliman

|Dec 05, 2024
Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect.

Sara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar

|Sep 10, 2020
Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant.

Sara H El-Dessouky, Mahmoud Y Issa, Mona M Aboulghar

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Frequent Collaborators

4 joint publications

Maha Saad Zaki

3 joint publications

Mahmoud Y Issa

2 joint publications

Ahmed K Saad

1 joint publications

Ghada Elhady