HM
Heba Morsy
University College London, Alexandria University, Alexandria University Medical Research Institute
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Cystic Fibrosis Research Advances · Genetic and Kidney Cyst Diseases
0000-0002-9047-0959
About
Postdoc Research Fellow, UCL Institute of Neurology, London, UK
Employment
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Alexandria University Lecturer2016 - 2018
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Alexandria University Medical Research Institute Assistant Lecturer2005 - 2010
Education
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Alexandria University Medical Research Institute PhD2011 - 2015
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Alexandria University Medical Research Institute MSc2007 - 2010
Projects & Funding
Projects & funding information is unavailable.
Publications (65)
- The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations. Save
- Human promoter analysis of the Programmed Axon Death genes NMNAT2 and SARM1 Save
- Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities Save
- MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy Save
- The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease (vol 57, pg 2361, 2025) Save
- Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium Save
- The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease Save
- Exploring the Wallerian Degeneration Pathway in a Peripheral Neuropathy Cohort Save
- ITPR1 Deletion: A Novel Cause of a Sensory Ataxic Neuropathy Save
- Implication of Rare SARM1 and NMNAT2 Variants in Inherited and Acquired Neuropathy Save
- Revisiting Unsolved neuropathy Cases: From Targeted to whole Exome Sequencing Save
- Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders Save
- Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing Save
- Association between Fibroblast Growth Factor Receptor 2 (FGFR2) Gene Polymorphism (rs2981582) and the Risk of Breast Cancer in Egyptian women. Save
- Rare disease gene association discovery in the 100,000 Genomes Project Save
- Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses Save
- MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy Save
- Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses (vol 31, pg 478, 2025) Save
- Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Save
- De novo and Inherited Monoallelic Variants in Tubulin Alpha-4A (TUBA4A) cause Ataxia and Spasticity Save