Wessam E. Eldin-Sharaf

Cairo, C, Egypt

Last Updated: 09/26/2026

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Found 21 publications

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Journal: Ophthalmic genetics

Published: March 08, 2026

The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI.

The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI.

Journal: Journal of human genetics

Published: March 04, 2026

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: January 13, 2026

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.

Journal: European journal of pediatrics

Published: December 01, 2025

Clinical Utility of Genetic Diagnosis in Drug-Resistant Epilepsy: Refining Classification and Guiding Therapy in an Egyptian Cohort.

Clinical Utility of Genetic Diagnosis in Drug-Resistant Epilepsy: Refining Classification and Guiding Therapy in an Egyptian Cohort.

Journal: Clinical genetics

Published: November 20, 2025

Loss of the maternal effect gene NLRP2 impairs embryonic and extra-embryonic development, revealing a novel genetic cause of congenital anomalies†.

Loss of the maternal effect gene NLRP2 impairs embryonic and extra-embryonic development, revealing a novel genetic cause of congenital anomalies†.

Journal: Biology of reproduction

Published: July 25, 2025

Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing.

Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing.

Journal: Clinical genetics

Published: February 26, 2025

Malformations of Core M3 on α-Dystroglycan Are the Leading Cause of Dystroglycanopathies.

Malformations of Core M3 on α-Dystroglycan Are the Leading Cause of Dystroglycanopathies.

Journal: Journal of molecular neuroscience : MN

Published: December 01, 2024

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.

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.

Journal: Clinical genetics

Published: November 02, 2024

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

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

Journal: Prenatal diagnosis

Published: July 23, 2024

Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.

Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.

Journal: Journal of molecular neuroscience : MN

Published: June 30, 2024

Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.

Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.

Journal: Science translational medicine

Published: April 03, 2024

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Last Updated: 09/26/2026