Maha S Zaki
Maha S Zaki is an expert in Genetics at National Research Centre (Egypt). As of October 2026, ScienceLeadR ranks Maha S Zaki in the top 1% of experts worldwide for Congenital Abnormalities. Maha S Zaki has authored 367 publications, the most recent in 2026, and is an investigator in 2 clinical trials, 1 of them ongoing. SLR score: 875 (community average: 125). How the SLR is computed.
LeadR Profile
Genetics
Subspecialties: Neurology - Biochemistry
Main Topics
Publications and Clinical Studies
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Organizations
Career arc: 2004 - 2026
Number : 367
Citations
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Latest Publications
5 most recent indexed articles
Source: Pubmed
| Title | Journal | Year | Citations |
|---|---|---|---|
| Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders. PMID 42856667 — genes, autism spectrum disorder, neurons, brain, neurodevelopmental disorders, haploinsufficiency, intellectual disability, attention deficit disorder with hyperactivity, neurodevelopment | medRxiv | 2026 | 0 |
| Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients. PMID 42853272 — genes, atrophy, congenital disorders of glycosylation, signs and symptoms, genes, x-linked | Hum Genet | 2026 | 0 |
| A Middle East collaborative for undiagnosed diseases. PMID 42760393 — genetics, undiagnosed diseases | Nat Rev Genet Top journal | 2026 | 0 |
| AAV-mediated CBLN1 replacement rescues hereditary ataxia caused by biallelic CBLN1 variants. PMID 42687380 — cells, ataxia, learning, genetic therapy, synapses | Mol Ther | 2026 | 0 |
| PINK1-Associated Juvenile-Onset Parkinsonism: Marked Phenotypic Variability and Limited Genotype-Phenotype Correlation. PMID 42670075 — parkinsonian disorders, phenotype, movement disorders, genotype | Mov Disord | 2026 | 0 |
Clinical Studies 2
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Cohort/Consortium Investigators 2
Ongoing Clinical Trials
Ongoing trial started since 2021, where this expert is an investigator
Source: ClinicalTrials
| Study | Phase | Status | Start |
|---|---|---|---|
| Natural History Study of Patients With HPDL Mutations NCT05848271 — registries, white matter, muscle spasticity, mitochondrial encephalomyopathies, natural history, muscles, blood, brain, neurodevelopmental disorders, leukoencephalopathies, brain diseases, paraplegia, history, mutation, genetic diseases, inborn, spastic paraplegia, hereditary, neurodevelopment | N/A | Recruiting | 2023 |
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