Maha S. Zaki
National Human Genome Research Institute(US)Centre For Human Genetics(IN)Armed Forces College of Medicine(EG)Agricultural Genetic Engineering Research Institute(EG)National Research Centre(EG)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Mitochondrial Function and Pathology, Genomic variations and chromosomal abnormalities, RNA modifications and cancer
Most-Cited Works
- → Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders(2014)537 cited
- → Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study(2013)433 cited
- → Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies(2009)409 cited
- → Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man(2012)374 cited
- → Exome Sequencing Can Improve Diagnosis and Alter Patient Management(2012)257 cited
- → Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome(2015)211 cited