Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic OptionsAyman W. El‐Hattab, Fernando Scaglia|Neurotherapeutics|2013Cited by 337
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and ChallengesTakeya Adachi, Duangrurdee Wattanasirichaigoon, Ayman W. El‐Hattab et al.|International Journal of Environmental Research and Public Health|2023Cited by 157
<scp>El‐Hattab‐Alkuraya</scp> syndrome caused by biallelic <scp><i>WDR45B</i></scp> pathogenic variants: Further delineation of the phenotype and genotypeMohammed Almannai, Ayman W. El‐Hattab, Ruizhi Duan et al.|Clinical Genetics|2022Cited by 11
Biallelic <i>NUDT2</i> variants defective in mRNA decapping cause a neurodevelopmental diseaseRalf A. Husain, Ignacio Rubio, Xinfu Jiao et al.|Brain|2023Cited by 8
Expanding the phenotype of <scp><i>PPP1R21</i></scp>‐related neurodevelopmental disorderMohammed Almannai, Ayman W. El‐Hattab, Dana Marafi et al.|Clinical Genetics|2024Cited by 6