Essra Aloyouni

Most-cited papers

1. Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

   Abdulaziz Asiri, Essra Aloyouni, Muhammad Umair, Yusra Alyafee +7 more

   2020Annals of Clinical and Translational Neurology19 citations Open access

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2. Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome)

   M. Alfadhel, Bashayr S. Alhubayshi, M. Umair, Ahmed M. Alfaidi +11 more

   2025Genetics and Molecular Biology3 citations Open access

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3. Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder

   M. Umair, Meshael Alharbi, Essra Aloyouni, Abdulkareem Al Abdulrahman +4 more

   2024Molecular Genetics & Genomic Medicine2 citations Open access

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4. Biallelic HMGXB4 loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic features

   Fuad Al Mutairi, Faisal Joueidi, Maha Alshalan, Essra Aloyouni +7 more

   2024Heliyon1 citations Open access

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5. First Report from Saudi Arabia of Trimethylaminuria Caused by a Premature Stop Codon Mutation in the FMO3 Gene

   Bandar Alghanem, Hassan S. Alamri, Tlili Barhoumi, Imran Ali Khan +8 more

   2024The Application of Clinical Genetics1 citations Open access

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6. Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families

   I. Al Alwan, R. Ali, M. Umair, I. Khan +15 more

   2026Journal of Clinical & Translational Endocrinology0 citations Open access

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