A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review by Aljazi Al-Maraghi (14056975)

Diagnosis and treatment of type 1 diabetes at the dawn of the personalized medicine era by Ammira Al-Shabeeb Akil (15143925)

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PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development by Sahar I. Da’as (9631717)

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A Complex Intrachromosomal Rearrangement Disrupting <i>IRF6 </i>in a Family with Popliteal Pterygium and Van der Woude Syndromes by Alya A. Al-Kurbi (18324927)

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Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank by Geethanjali Devadoss Gandhi (14056966)

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Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder by Rulan Shaath (17112852)

Other Authors: “…Aljazi Al-Maraghi (14056975)…”

Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank by Geethanjali Devadoss Gandhi (14780425)

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Burden of Mendelian disorders in a large Middle Eastern biobank by Waleed Aamer (14056969)

Other Authors: “…Aljazi Al-Maraghi (14056975)…”