2016
An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder
de Araújo Lima L, Feio-dos-Santos A, Belangero S, Gadelha A, Bressan R, Salum G, Pan P, Moriyama T, Graeff-Martins A, Tamanaha A, Alvarenga P, Krieger F, Fleitlich-Bilyk B, Jackowski A, Brietzke E, Sato J, Polanczyk G, Mari J, Manfro G, do Rosário M, Miguel E, Puga R, Tahira A, Souza V, Chile T, Gouveia G, Simões S, Chang X, Pellegrino R, Tian L, Glessner J, Hashimoto R, Rohde L, Sleiman P, Hakonarson H, Brentani H. An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder. Scientific Reports 2016, 6: 22851. PMID: 26947246, PMCID: PMC4780010, DOI: 10.1038/srep22851.Peer-Reviewed Original ResearchConceptsCopy number variantsProtein-protein interaction networkDe novo CNVsSingle nucleotide variantsGenetic architectureNew genesInteraction networksOnly geneFunctional analysisCNV studiesNovo CNVsGenesCell adhesionGenetic variantsExome dataIntegrative approachPathwayGenetic susceptibilityVariantsGWASTriosRespective rolesSilicoCNVsSNVs
2014
An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
Cappi C, Hounie A, Mariani D, Diniz J, Silva A, Reis V, Busso A, Silva A, Fidalgo F, Rogatto S, Miguel E, Krepischi A, Brentani H. An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder. PLOS ONE 2014, 9: e110198. PMID: 25303678, PMCID: PMC4193873, DOI: 10.1371/journal.pone.0110198.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAge of OnsetCase-Control StudiesChildChild, PreschoolChromosome DeletionChromosomes, Human, Pair 15Comparative Genomic HybridizationDNA Copy Number VariationsFetal ProteinsForminsGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMicrofilament ProteinsNuclear ProteinsObsessive-Compulsive DisorderConceptsObsessive-compulsive disorderOnset obsessive-compulsive disorderEarly-onset obsessive-compulsive disorderAttention deficit hyperactivity disorderArray-based comparative genomic hybridizationNeurodevelopmental psychiatric disordersDeficit hyperactivity disorderGlutamatergic involvementMale patientsGlutamatergic systemPsychiatric disordersHealthy individualsPatientsHyperactivity disorderGenetic riskComparative genomic hybridizationDisordersSmall microdeletionsChromosome 15q13.3Present studyGenomic hybridizationMicrodeletionCohortCopy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study
McGrath LM, Yu D, Marshall C, Davis LK, Thiruvahindrapuram B, Li B, Cappi C, Gerber G, Wolf A, Schroeder FA, Osiecki L, O'Dushlaine C, Kirby A, Illmann C, Haddad S, Gallagher P, Fagerness JA, Barr CL, Bellodi L, Benarroch F, Bienvenu OJ, Black DW, Bloch MH, Bruun RD, Budman CL, Camarena B, Cath DC, Cavallini MC, Chouinard S, Coric V, Cullen B, Delorme R, Denys D, Derks EM, Dion Y, Rosário MC, Eapen V, Evans P, Falkai P, Fernandez TV, Garrido H, Geller D, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Heiman GA, Hemmings SM, Herrera LD, Hounie AG, Jankovic J, Kennedy JL, King RA, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Lochner C, Lowe TL, Lyon GJ, Macciardi F, Maier W, McCracken JT, McMahon W, Murphy DL, Naarden AL, Neale BM, Nurmi E, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Reus VI, Richter MA, Riddle M, Robertson MM, Rosenberg D, Rouleau GA, Ruhrmann S, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Tischfield JA, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Wendland JR, Shugart YY, Miguel EC, Nicolini H, Oostra BA, Moessner R, Wagner M, Ruiz-Linares A, Heutink P, Nestadt G, Freimer N, Petryshen T, Posthuma D, Jenike MA, Cox NJ, Hanna GL, Brentani H, Scherer SW, Arnold PD, Stewart SE, Mathews CA, Knowles JA, Cook EH, Pauls DL, Wang K, Scharf JM. Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study. Journal Of The American Academy Of Child & Adolescent Psychiatry 2014, 53: 910-919. PMID: 25062598, PMCID: PMC4218748, DOI: 10.1016/j.jaac.2014.04.022.Peer-Reviewed Original Research