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Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.

Mona AbdiElbay AliyevBrett TrostMuhammad KohailanWaleed AamerNajeeb SyedRulan ShaathGeethanjali Devadoss GandhiWorrawat EngchuanJennifer HoweBhooma ThiruvahindrapuramMelissa GengJoe WhitneyAmira SyedJyothi LakshmiSura HusseinNajwa AlbashirAmal HusseinIlaria PoggioliniSaba F ElhagSasirekha PalaniswamyMarios KambourisMaria de Fatima JanjuaMohamed O El TahirAhsan NazeerDurre ShahwarMuhammad Waqar AzeemYounes MokrabNazim Abdel AatiAmmira AkilStephen W SchererMadeeha KamalKhalid A Fakhro
Published in: Genome medicine (2023)
This study illustrates the value of ASD studies in under-represented populations and the importance of WGS as a comprehensive tool for establishing a molecular diagnosis for families with ASD. Moreover, it uncovers a significant role for recessive variation in ASD architecture in consanguineous settings and provides a unique resource of Middle Eastern genomes for future research to the global ASD community.
Keyphrases
  • autism spectrum disorder
  • intellectual disability
  • attention deficit hyperactivity disorder
  • mental health
  • gene expression
  • south africa