CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia.

Authors: Alsubeeh, Najlaa A.¹, Almuqbil, Mohammed A.^2,3,4, almuqbilmo@ngha.med.sa, Davies, William⁵, Bertoli‐Avella, Aida⁶, Anikar, Swathi⁶, Zonic, Emir⁶, Eyaid, Wafaa M.^3,4,7, eyaidw@ngha.med.sa

Source: American Journal of Medical Genetics. Part A; Jan2025, Vol. 197 Issue 1, p1-8, 8p

Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study.

Authors: Alshamlani, Lamia K, Alsulaim, Dana S, Alabbad, Raghad S, Alhoshan, Ahad A, Alkhoder, Joud F, Alsaleh, Norah S, Almannai, Mohammed, Ababneh, Faroug, Algattan, Manal, Alsini, Lojain, Alswaid, Abdulrahman Faiz, Eyaid, Wafaa M, Mutairi, Fuad Al, Umair, Muhammad, Alfadhel, Majid

Source: Application of Clinical Genetics; Oct2024, Vol. 17, p151-158, 8p

Subject Terms: KINGS & rulers, RESEARCH departments, CHILDREN'S hospitals, MOLECULAR genetics, ELECTRONIC health records, CONSANGUINITY

Geographic Terms: SAUDI Arabia

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

Authors: Manzini, M. Chiara, Tambunan, Dimira E., Hill, R. Sean, Yu, Tim W., Maynard, Thomas M., Heinzen, Erin L., Shianna, Kevin V., Stevens, Christine R., Partlow, Jennifer N., Barry, Brenda J., Rodriguez, Jacqueline, Gupta, Vandana A., Al-Qudah, Abdel-Karim, Eyaid, Wafaa M., Friedman, Jan M., Salih, Mustafa A., Clark, Robin, Moroni, Isabella, Mora, Marina, Beggs, Alan H., Gabriel, Stacey B., Walsh, Christopher A.

Source: In The American Journal of Human Genetics 7 September 2012 91(3):541-547

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

Authors: Imtiaz, Faiqa, Al-Mubarak, Bashayer M., Al-Mostafa, Abeer, Al-Hamed, Mohamed, Allam, Rabab, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Rahbeeni, Zuhair, Qari, Alya, Faqeih, Eissa Ali, Alasmari, Ali, Al-Mutairi, Fuad, Alfadhel, Majid, Eyaid, Wafaa M., Rashed, Mohamed S., Al-Sayed, Moeenaldeen

Source: JIMD Reports, Volume 29; 2016, p39-46, 8p

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An inborn error of metabolism presenting as hypoxic-ischemic insult

Authors: Eyaid, Wafaa M. ^{*, *}, Al-Nouri, Doha M. ^*, Rashed, Mohamed S., Al-Rifai, Muhammad T. ^*, Al-Wakeel, Anwar S. ^*

Source: In Pediatric Neurology 2005 32(2):134-136

Mutations in POMT1 are found in a minority of patients with Walker–Warburg syndrome

Authors: Currier, Sophie C., Lee, Christine K., Chang, Bernard S., Bodell, Adria L., Pai, G. Shashidhar, Job, Leela, Lagae, Lieven G., Al‐Gazali, Lihadh I., Eyaid, Wafaa M., Enns, Greg, Dobyns, William B., Walsh, Christopher A.

Source: American Journal of Medical Genetics. Part A; February 2005, Vol. 133 Issue: 1 p53-57, 5p