Mahmoud Y Issa
21PUBLICATIONS
149CO-AUTHORS
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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
