2023
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study
Abdi M, Aliyev E, Trost B, Kohailan M, Aamer W, Syed N, Shaath R, Gandhi G, Engchuan W, Howe J, Thiruvahindrapuram B, Geng M, Whitney J, Syed A, Lakshmi J, Hussein S, Albashir N, Hussein A, Poggiolini I, Elhag S, Palaniswamy S, Kambouris M, de Fatima Janjua M, Tahir M, Nazeer A, Shahwar D, Azeem M, Mokrab Y, Aati N, Akil A, Scherer S, Kamal M, Fakhro K. Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study. Genome Medicine 2023, 15: 81. PMID: 37805537, PMCID: PMC10560429, DOI: 10.1186/s13073-023-01228-w.Peer-Reviewed Original ResearchConceptsTandem repeat expansionsSingle nucleotide variantsGenetic architectureNovel ASD candidate genesWhole-genome sequencing dataMitochondrial DNA variantsASD candidate genesMulti-omics researchGenomic architectureRecessive variationMtDNA variantsCandidate genesDNA variantsSequencing dataRepeat expansionNumber variantsSNVs/indelsDe novoNon-consanguineous familyGenesGenetics guidelinesUnique resourcePathogenic variantsFamilyMedical Genetics guidelines
2020
Genetics of structural and functional brain changes in autism spectrum disorder
Hashem S, Nisar S, Bhat A, Yadav S, Azeem M, Bagga P, Fakhro K, Reddy R, Frenneaux M, Haris M. Genetics of structural and functional brain changes in autism spectrum disorder. Translational Psychiatry 2020, 10: 229. PMID: 32661244, PMCID: PMC7359361, DOI: 10.1038/s41398-020-00921-3.Peer-Reviewed Original ResearchConceptsASD patientsAutism spectrum disorderFunctional brain changesSpecific single nucleotide polymorphismsClinical managementIsolated disorderBrain changesSpectrum disorderTherapeutic interventionsFunctional changesNoninvasive imagingDisordersSingle nucleotide polymorphismsGenetic disordersPatientsRisk genesDevelopmental disordersSocial impairmentNeuropsychiatryASD diagnosisCommunicative behavior