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Mahmoud Y Issa

21PUBLICATIONS

149CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Medical molecular engineering of nucleic acids and proteinsGene mappingMajor global burdens of disease

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Publications (21)

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|Aug 18, 2025

Germline variants in <i>UHRF1</i> are associated with multilocus imprinting disturbance in humans and mice.

Eguzkine Ochoa, Ilona Zvetkova, Sunwoo Liv Lee

|Apr 30, 2025

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

Asmaa K Amin, Sara H El-Dessouky, Marwa Abd Elmaksoud

|Mar 27, 2025

The contribution of de novo coding mutations to meningomyelocele.

Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang

|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

|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

|Nov 05, 2024

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.

Simo Li, Sanami Takada, Ghada M H Abdel-Salam

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Frequent Collaborators

13 joint publications

Maha Saad Zaki

4 joint publications

Mohamed S Abdel-Hamid

4 joint publications

Joseph G Gleeson

3 joint publications

Wessam E Sharaf-Eldin

3 joint publications

Sara H El-Dessouky

3 joint publications

Henry Houlden

2 joint publications

Alistair T Pagnamenta

2 joint publications

Keng Ioi Vong

2 joint publications

Peter Bauer

2 joint publications

Christian Beetz

Frequent Collaborators

13 joint publications

Maha Saad Zaki

4 joint publications

Mohamed S Abdel-Hamid

4 joint publications

Joseph G Gleeson

3 joint publications

Wessam E Sharaf-Eldin

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