Zaki, Maha S.

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Guemez-Gamboa, A., Nguyen, L. N., Yang, H., Zaki, M. S., Kara, M., Ben-Omran, T., Akizu, N., Rosti, R. O., Rosti, B., Scott, E., et al. (2015) · Nature Genetics

Barrier Structure and Function StudiesFatty Acid Research and Health

Cited by 225

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

O'Driscoll, M. C., Daly, S. B., Urquhart, J. E., Black, G. C. M., Pilz, D. T., Brockmann, K., McEntagart, M., Abdel-Salam, G., Zaki, M., Wolf, N. I., et al. (2010) · The American Journal of Human Genetics

Fetal and Pediatric Neurological DisordersBarrier Structure and Function Studies

Cited by 145

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive

Zaki, M. S., Bhat, G., Sultan, T., Issa, M., Jung, H., Dikoglu, E., Selim, L., G. Mahmoud, I., Abdel‐Hamid, M. S., Abdel‐Salam, G., et al. (2016) · Annals of Neurology

Metabolism and Genetic DisordersHereditary Neurological Disorders

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Most prominent challenges in translational neuroscience and strategic solutions to bridge the gaps: Perspectives from an editorial board interrogation

Hermann, D. M., Bacigaluppi, M., Bassetti, C. L., Bassotti, G., Boltze, J., Chan, A., Dalkara, T., Denes, A., Diez-Tejedor, E., Dodel, R., et al. (2025) · Exploration of Neuroscience

Health and Medical Research ImpactsAnimal testing and alternatives

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Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy

Kato, K., Nishio, Y., McMillan, K. J., Al-Maraghi, A., Kroes, H. Y., Abdel-Hamid, M. S., Jones, E., Shaw, S., Yoshida, A., Otsuji, S., et al. (2025) · Science Translational Medicine

Cellular transport and secretionGenomics and Rare Diseases

Cited by 7

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children

Elkhateeb, N., Issa, M. Y., Elbendary, H. M., Elnaggar, W., Ramadan, A., Rafat, K., Kamel, M., Abdel‐Ghafar, S. F., Amer, F., Hassaan, H. M., et al. (2024) · Clinical Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 7