Al-Maawali, A. A.

Top Publications

Top Publications Authored or Co-Authored by "Al-Maawali, A. A."

• Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

  American Journal of Human Genetics, Volume 96, No. 5, Year 2015, Citations 65
• Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

  Genetics in Medicine, Volume 25, No. 11, Article 100938, Year 2023, Citations 59
• Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

  American Journal of Medical Genetics, Part A, Volume 176, No. 3, Year 2018, Citations 22
• Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder

  Genetics in Medicine, Volume 25, No. 9, Article 100893, Year 2023, Citations 20