2022
Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes
Ganesh S, Vemula A, Bhattacharjee S, Mathew K, Ithal D, Navin K, Nadella R, Viswanath B, Sullivan P, Jain S, Purushottam M. Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes. Scientific Reports 2022, 12: 21128. PMID: 36476812, PMCID: PMC9729597, DOI: 10.1038/s41598-022-25664-7.Peer-Reviewed Original ResearchConceptsSequence kernel association testKernel association testWhole-exome sequencing studiesExome sequencing studiesUnique genesGenetic architectureCase-control association analysisDeleterious variantsSequencing studiesWhole-exome sequencingMendelian syndromesAssociation analysisCriteria of rarityPleiotropic influenceGenesWES studyFunctional consequencesSignificant overrepresentationGenetic pleiotropyExome sequencingAffected individualsFamilyImportant insightsUnrelated controlsAssociation Test
2020
Association of SLC1A1 Gene Polymorphism With Obsessive Compulsive Disorder in a Sample From Southern India
Shukla T, Nadella R, J. R, Ganesh S, Nestadt G, Purushottam M, Jain S, Reddy Y, Viswanath B. Association of SLC1A1 Gene Polymorphism With Obsessive Compulsive Disorder in a Sample From Southern India. Experimental And Clinical Psychopharmacology 2020, 28: 617-621. PMID: 31985241, DOI: 10.1037/pha0000348.Peer-Reviewed Original ResearchConceptsObsessive-compulsive disorderTreatment responseAge of onsetSRI treatment responseSignificant associationClinical parametersMini International Neuropsychiatric InterviewGenotype/allele frequenciesSymptom dimensionsSpecialty OCD clinicAdequate trialFull respondersNeuropsychiatric InterviewHealthy controlsBrain volumeGene polymorphismsOCD clinicDisease severityCase-control association analysisSymptom severityOCD patientsOCD casesGenotype frequenciesCompulsive disorderAssociation