2024
Evaluation of imputation performance of multiple reference panels in a Pakistani population
Xu J, Liu D, Hassan A, Genovese G, Cote A, Fennessy B, Cheng E, Charney A, Knowles J, Ayub M, Peterson R, Bigdeli T, Huckins L. Evaluation of imputation performance of multiple reference panels in a Pakistani population. Human Genetics And Genomics Advances 2024, 6: 100395. PMID: 39696820, PMCID: PMC11759560, DOI: 10.1016/j.xhgg.2024.100395.Peer-Reviewed Original ResearchGenome-wide association studiesReference panelImputation accuracyMultiple reference panelsPakistani individualsGenotype imputationAssociation studiesGenotype dataAncestry compositionEuropean individualsSample sizeTOPMedDiverse populationsPakistani populationImputationGenomeAncestryIndividualsGenotypesPopulationVariantsFuture panels
2023
Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families
Ali A, Abdullah, Bilal M, Mis E, Lakhani S, Ahmad W, Ullah I. Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families. Molecular Biology Reports 2023, 50: 9963-9970. PMID: 37897612, DOI: 10.1007/s11033-023-08816-4.Peer-Reviewed Original ResearchConceptsUnique inheritance patternConsanguineous familyPakistani consanguineous familyMKK genesDifferent genesBBS7 geneBardet-Biedl syndromeWhole-exome sequencingRod-cone dystrophyBBS genesGenesCompound heterozygous variantsNovel homozygous variantHeterogeneous congenital disorderInheritance patternRelated phenotypesExome sequencingClinical manifestationsMutational screeningRenal abnormalitiesMutation spectrumCognitive impairmentHeterozygous variantsPakistani populationHomozygous variant
2018
Association of CACNA1C with bipolar disorder among the Pakistani population
Khalid M, Driessen TM, Lee JS, Tejwani L, Rasool A, Saqlain M, Shiaq PA, Hanif M, Nawaz A, DeWan AT, Raja GK, Lim J. Association of CACNA1C with bipolar disorder among the Pakistani population. Gene 2018, 664: 119-126. PMID: 29684488, PMCID: PMC5970093, DOI: 10.1016/j.gene.2018.04.061.Peer-Reviewed Original ResearchConceptsBipolar disorderPakistani populationSingle nucleotide polymorphismsRisk allelesRisk score assessmentMore risk allelesScore assessmentControl individualsSignificant associationCACNA1CAssociationGenotyping resultsDisordersRs1006737Present studyNucleotide polymorphismsEthnic groupsPopulationAssociation of CACNA1CProtein-protein interaction networkRs9804190ANK3
2016
Improvement in quality of lifesix months after primary total hip arthroplasty in a Pakistani population.
Zubairi AJ, Bin Mahmood SU, Ali M, Noordin S. Improvement in quality of lifesix months after primary total hip arthroplasty in a Pakistani population. Journal Of The Pakistan Medical Association 2016, 66(Suppl 3): s99-s101. PMID: 27895369.Peer-Reviewed Original ResearchConceptsTotal hip arthroplastyQuality of lifePrimary total hip arthroplastyHip arthroplastyElective primary total hip arthroplastyCore Outcome Measures IndexAga Khan University HospitalCohort studyHip scoreMost patientsMean agePatient satisfactionUniversity HospitalOrthopaedic departmentMean reductionPatientsSignificant improvementSix monthsPakistani populationAmerican SocietyArthroplastyScoresMonthsAgeDisability
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