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
2019
Association of genes with phenotype in autism spectrum disorder
Nisar S, Hashem S, Bhat A, Syed N, Yadav S, Azeem M, Uddin S, Bagga P, Reddy R, Haris M. Association of genes with phenotype in autism spectrum disorder. Aging 2019, 11: 10742-10770. PMID: 31744938, PMCID: PMC6914398, DOI: 10.18632/aging.102473.Peer-Reviewed Original ResearchConceptsASD risk genesRisk genesNovel candidate genesAssociation of genesGene transcriptionGenetic pathwaysNeuronal activity modulationCandidate genesGenesGenetic variantsPathophysiology of ASDPathwayHeterogeneous neurodevelopmental disorderRegulation processesActivity modulationSynaptic plasticityNeurodevelopmental disordersTranscriptionIdentificationGeneticsPhenotypeRolePlasticityAutism spectrum disorderField of neuroscience