Publications by authors named "Ali Awaji"

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Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group.
Moeenaldeen AlSayed, Khalid Al Rasadi, Noura S AlDhaheri, Abdulrahman Al-Hussaini, Ali Awaji

Orphanet J Rare Dis· December 2025

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Human 'knockouts' of CSF3 display severe congenital neutropenia.
Ebtissal Khouj, Dana Marafi, Bayan Aljamal, Anwar Hajiya, Reem M Elshafie, Ali Awaji

Br J Haematol· November 2023

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Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.
Zuhair N Al-Hassnan, Abdulrahman Almesned, Sahar Tulbah, Ali Alakhfash, Faten Alhadeq, Ali Awaji

Circ Genom Precis Med· October 2020

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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Ali Awaji

Nat Commun· January 2020

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IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
Mohammed A Aldahmesh, Yuanyuan Li, Amal Alhashem, Shams Anazi, Hisham Alkuraya, Ali A Awaji

Hum Mol Genet· June 2014

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Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.
Anas M Alazami, Hadia Hijazi, Mohammed S Al-Dosari, Ranad Shaheen, Amal Hashem, Ali Awaji

J Med Genet· July 2013

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Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.
Ranad Shaheen, Mohammed Al-Owain, Eissa Faqeih, Nadia Al-Hashmi, Ali Awaji

Am J Med Genet A· June 2011

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