2024
F12. CLINICALLY ACTIONABLE PHARMACOGENOMIC LANDSCAPE OF PSYCHOTROPICS IN QATAR
Velayutham D, Bastaki K, Irfan A, Abuhaliqa M, Ghuloum S, Azeem M, Pirmohamed M, Jithesh P. F12. CLINICALLY ACTIONABLE PHARMACOGENOMIC LANDSCAPE OF PSYCHOTROPICS IN QATAR. European Neuropsychopharmacology 2024, 87: 211. DOI: 10.1016/j.euroneuro.2024.08.423.Peer-Reviewed Original ResearchClinical Pharmacogenetics Implementation ConsortiumDutch Pharmacogenetics Working GroupGenetic variationClinical Pharmacogenetics Implementation Consortium recommendationsMetabolic phenotypeWhole-genome sequencing dataImplementing PGx testingGenome sequence dataIntegration of pharmacogenomicsPharmacogenetics Working GroupAnalysis of haplotypesQatari populationPGx testingSequence dataImplementation ConsortiumUltrarapid metabolizersPharmacogenetic testingPharmacokinetic genesGenetic variantsCase of antipsychoticsPsychotropic medication responseResponse to antidepressantsResponse phenotypesCase of haloperidolChoice of therapy
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