Research output per year
Research output per year
Personal profile
Research interests
INTERESTS:
Chromosomal disorders and genetic and inherited syndromes
Birth defects and congenital malformation
Developmental delay and intellectual disability
Autism and behavioral disorders
Growth failure and skeletal dysplasias
Metabolic disorders and mitochondrial disorders
Familial hereditary cancers
Inherited and genetic neurological, endocrine, cardiovascular, pulmonary, renal gastrointestinal, skeletal, dermatological, immunological, and hematological Diseases
Inherited and genetic hearing impairment and eye disorders
Infertility and recurrent miscarriages
Intrauterine fetal death and in utero fetal malformation
Screening for genetic diseases and preventive genetics
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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SDG 3 Good Health and Well-being -
SDG 10 Reduced Inequalities
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Genetic Diseases in the UAE
Al Ojaimi, M., Almahmoud, R., Banimortada, B. J., Alragheb, A. & El-Hattab, A. W., 1 Jan 2026, Healthcare in the United Arab Emirates. Springer Nature, p. 711-735 25 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review
Open Access -
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway
Hirano, Y., Miyazaki, Y., Ishikawa, D., Inahashi, H., Al-Hassnan, Z. N., Zifarelli, G., Bauer, P., Alvi, J. R., Sultan, T., Thompson, M. L., Sezer, A., Konuşkan, B., Hajir, R. S., El-Hattab, A. W., Efthymiou, S., Ishida, A., Yokoi, N., Kornau, H. C., Schmitz, D. & Prüss, H. & 5 others, , 1 Oct 2025, In: Brain. 148, 10, p. 3514-3522 9 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature
Ramakrishna, N. B., Mohamad Sahari, U. B., Johmura, Y., Ali, N. A., Alghamdi, M., Bauer, P., Khan, S., Ordoñez, N., Ferreira, M., Pinto Basto, J., Alkuraya, F. S., Faqeih, E. A., Mori, M., Almontashiri, N. A. M., Al Shamsi, A., ElGhazali, G., Abu Subieh, H., Al Ojaimi, M., El-Hattab, A. W. & Said Al-Kindi, S. A. & 31 others, , 1 May 2025, In: American Journal of Human Genetics. 112, 5, p. 1233-1246 14 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Molecular and clinical aspects of histone-related disorders
Al Ojaimi, M., Banimortada, B. J., Alragheb, A., Hajir, R. S., Alves, C., Walid, D., Raza, A. & El-Hattab, A. W., Dec 2025, In: Human Genomics. 19, 1, 47.Research output: Contribution to journal › Review article › peer-review
Open Access3 Scopus citations -
Molecular dynamics simulation of GJC2 mutants reveal pathogenic mechanisms of PMLD1 and SPG44
Gong, D., Orthmann-Murphy, J. L., Kumar, D., Dungan, G. D., El-Hattab, A. W., Schiess, N., Luo, Y. L., Freidin, M. M. & Abrams, C. K., 7 Jul 2025, In: Journal of General Physiology. 157, 4Research output: Contribution to journal › Article › peer-review
Open Access