Almannai, M., Alsamri, A., Alqasmi, A., Faqeih, E., AlMutairi, F., Alotaibi, M., … Alkuraya, F. (2018). Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. Clinical Genetics. https://doi.org/10.1111/cge.13210 (Original work published 2018)

Mutairi, A., Alzahrani, F., Ababneh, F., Kashgari, A., & Alkuraya, F. (2018). A Mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin. Annals of Neurology. https://doi.org/10.1002/ana.25152 (Original work published 2018)

Wagner, M., Skorobogatko, Y., Pode-Shakked, B., Powell, C., Alhaddad, B., Seibt, A., … Distelmaier, F. (2020). Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. American Journal of Human Genetics, 106(2), 246-255. https://doi.org/10.1016/j.ajhg.2020.01.002 (Original work published 2020)