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 ResearchMeSH KeywordsAutism Spectrum DisorderChildDNA Copy Number VariationsDNA, MitochondrialGenetic Predisposition to DiseaseGenomeGenomicsHumansQatarConceptsTandem 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
2021
Genetic variations influence brain changes in patients with attention-deficit hyperactivity disorder
Yadav S, Bhat A, Hashem S, Nisar S, Kamal M, Syed N, Temanni M, Gupta R, Kamran S, Azeem M, Srivastava A, Bagga P, Chawla S, Reddy R, Frenneaux M, Fakhro K, Haris M. Genetic variations influence brain changes in patients with attention-deficit hyperactivity disorder. Translational Psychiatry 2021, 11: 349. PMID: 34091591, PMCID: PMC8179928, DOI: 10.1038/s41398-021-01473-w.Peer-Reviewed Original ResearchMeSH KeywordsAdultAnimalsAttention Deficit Disorder with HyperactivityBrainChildGenetic Predisposition to DiseaseGenetic VariationHumansNeuroimagingConceptsAttention deficit hyperactivity disorderNeurobiology of ADHDHyperactivity disorderSevere brain injuryNew treatment modalitiesDevelopment of ADHDBrain circuit functionNovel clinical biomarkersChildhood-onset disordersStrong genetic associationNeurodevelopmental assessmentPremature birthADHD brainTreatment modalitiesBrain injuryBrain changesPrecise etiologyPsychiatric disordersAnimal modelsADHD patientsTherapeutic interventionsNeural abnormalitiesClinical biomarkersNeurodevelopmental issuesSignificant association
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 ResearchMeSH KeywordsAutism Spectrum DisorderChildFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansMalePhenotypeConceptsASD 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