2025
Chapter 52 Obsessive–compulsive disorder
Abdallah S, Olfson E, Fernandez T. Chapter 52 Obsessive–compulsive disorder. 2025, 937-950. DOI: 10.1016/b978-0-443-19176-3.00011-x.Peer-Reviewed Original ResearchObsessive-compulsive disorderObsessive-compulsive disorder etiologiesCognitive behavioral therapySerotonin reuptake inhibitorsReuptake inhibitorsBehavioral therapyMedication augmentationNeuroanatomical alterationsNeurochemical imbalanceMedication trialsGenetic influencesImprove treatment outcomesEvidence-based therapeutic strategiesTreatment outcomesRobust clinical trialsDisordersClinical manifestationsTreatment optionsClinical trialsTherapeutic strategiesSerotoninMultifactorial naturePharmacotherapyNeuromodulationTrialsChapter 53 Tourette syndrome
Abdallah S, Fasching L, Brady M, Bloch M, Lombroso P, Vaccarino F, Fernandez T. Chapter 53 Tourette syndrome. 2025, 951-962. DOI: 10.1016/b978-0-443-19176-3.00044-3.Peer-Reviewed Original ResearchTourette syndromeCortico-striatal-thalamo-cortical circuitryStriatal volume lossAdult TS patientsNeuroimaging studiesNeuropsychiatric disordersDopaminergic receptorsVocal ticsStriatal interneuronsClasses of striatal interneuronsBasal gangliaMetabolic hypofunctionEnvironmental risk factorsTS patientsAmeliorate symptomsGenetic contributionMolecular abnormalitiesPharmacological strategiesCircuitryAffecting 1Animal modelsRisk factorsInterneuronal circuitryVolume lossAbnormalities
2024
Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes
Olfson E, Farhat L, Liu W, Vitulano L, Zai G, Lima M, Parent J, Polanczyk G, Cappi C, Kennedy J, Fernandez T. Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes. Nature Communications 2024, 15: 5870. PMID: 38997333, PMCID: PMC11245598, DOI: 10.1038/s41467-024-50247-7.Peer-Reviewed Original ResearchConceptsDNA sequencesRisk genesHigh-confidence risk genesWhole-exome DNA sequencingSequencing of familiesIdentified de novoLysine demethylase 5BDNA variantsTrio cohortBiological pathwaysGenesSequencing cohortGenetic factorsChildhood neurodevelopmental disordersAttention-deficit/hyperactivity disorderSequenceVariantsADHD riskNeurodevelopmental disordersKDM5BDNAMutationsFamilyLysineDiscoveryThe genetics of trichotillomania and excoriation disorder: A systematic review
Reid M, Lin A, Farhat L, Fernandez T, Olfson E. The genetics of trichotillomania and excoriation disorder: A systematic review. Comprehensive Psychiatry 2024, 133: 152506. PMID: 38833896, PMCID: PMC11513794, DOI: 10.1016/j.comppsych.2024.152506.Peer-Reviewed Original ResearchSystematic reviewGenome-wide researchGenome-wide associationDNA sequencing studiesDiscovery of risk genesWeb of ScienceGenetic factorsObsessive-compulsive disorderGenetic epidemiologyGenetic risk factorsSequencing studiesRisk genesGeneral populationMolecular geneticsExcoriation disorderRisk factorsGeneticsFirst-line medicationPsychiatric disordersObsessive-compulsive related disordersObsessive-compulsive disorder spectrumBody-focused repetitive behaviorsDevelopment of trichotillomaniaPsycINFOGenomeIntense Imagery Movements May Lead to Maladaptive Daydreaming: A Case Series and Literature Review.
Hedderly T, Eccles C, Malik O, Abdulsatar F, Mitchell C, Owen T, Soffer-Dudek N, Grose C, Fernandez TV, Robinson S, Somer E. Intense Imagery Movements May Lead to Maladaptive Daydreaming: A Case Series and Literature Review. Mov Disord Clin Pract 2024 PMID: 38533626, DOI: 10.1002/mdc3.14011.Peer-Reviewed Original ResearchWhat Parents Should Know About Complex Motor Stereotypies
Chawarska K, Fernandez T, Torres-Visio M. (2024, February). What Parents Should Know About Complex Motor Stereotypies. Autism Advocate Parenting Magazine, Issue 41, 15-17.Publications for non-academic audiences
2023
Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD
Wang S, Wang B, Drury V, Drake S, Sun N, Alkhairo H, Arbelaez J, Duhn C, Bal V, Langley K, Martin J, Hoekstra P, Dietrich A, Xing J, Heiman G, Tischfield J, Fernandez T, Owen M, O’Donovan M, Thapar A, State M, Willsey A. Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD. Nature Communications 2023, 14: 8077. PMID: 38057346, PMCID: PMC10700338, DOI: 10.1038/s41467-023-43776-0.Peer-Reviewed Original ResearchConceptsDamaging variantsHigh-confidence ASD risk genesExome-wide significanceRare genetic variationASD risk genesRare damaging variantsHemizygous natureWhole-exome sequencing studiesExome sequencing studiesGene discoveryMultiple neurodevelopmental disordersGenetic variationGenetic mechanismsChr XMale sex biasSequencing studiesChromosome XRisk genesTransmission disequilibrium testAttention-deficit/hyperactivity disorderASD probandsAutism spectrum disorderASD familiesSex biasInformative recombinationsClinical characteristics of probands with obsessive-compulsive disorder from simplex and multiplex families
Lima M, Saraiva L, Ramos V, Oliveira M, Costa D, Disorders B, Fernandez T, Crowley J, Storch E, Shavitt R, Miguel E, Cappi C. Clinical characteristics of probands with obsessive-compulsive disorder from simplex and multiplex families. Psychiatry Research 2023, 331: 115627. PMID: 38113811, PMCID: PMC11129832, DOI: 10.1016/j.psychres.2023.115627.Peer-Reviewed Original ResearchPrimary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene
Fernandez T, Williams Z, Kline T, Rajendran S, Augustine F, Wright N, Sullivan C, Olfson E, Abdallah S, Liu W, Hoffman E, Gupta A, Singer H. Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene. PLOS ONE 2023, 18: e0291978. PMID: 37788244, PMCID: PMC10547198, DOI: 10.1371/journal.pone.0291978.Peer-Reviewed Original ResearchConceptsRisk genesDe novo damaging variantsGene expression patternsWhole-exome DNA sequencingMid-fetal developmentAdditional risk genesHigh-confidence risk genesParent-child triosGene OntologyCell signalingExpression patternsCalcium ion transportFunctional convergenceCell cycleDamaging variantsGenesDNA sequencingDe novoASD probandsGenetic etiologyBiological mechanismsSequencingDNANetwork analysisIon transportProtocol description for a randomized controlled trial of fMRI neurofeedback for tics in adolescents with Tourette Syndrome
Awasthi J, Harris-Starling C, Kalvin C, Pittman B, Park H, Bloch M, Fernandez T, Sukhodolsky D, Hampson M. Protocol description for a randomized controlled trial of fMRI neurofeedback for tics in adolescents with Tourette Syndrome. Psychiatry Research Neuroimaging 2023, 336: 111692. PMID: 37673711, PMCID: PMC10722977, DOI: 10.1016/j.pscychresns.2023.111692.Peer-Reviewed Case Reports and Technical NotesConceptsTourette syndromeFunctional magnetic resonance imagingStudy protocolChronic tic disorderSupplementary motor areaLower functional connectivityMagnetic resonance imagingResearch study protocolLarge trialsClinical trialsTic disordersMotor areaBrain areasControl groupResonance imagingBrain regionsNew trialsFunctional connectivityNeurofeedback interventionFMRI neurofeedbackNF protocolTrialsNF studiesSyndromeInterventionEfficient reconstruction of cell lineage trees for cell ancestry and cancer
Jang Y, Fasching L, Bae T, Tomasini L, Schreiner J, Szekely A, Fernandez T, Leckman J, Vaccarino F, Abyzov A. Efficient reconstruction of cell lineage trees for cell ancestry and cancer. Nucleic Acids Research 2023, 51: e57-e57. PMID: 37026484, PMCID: PMC10250207, DOI: 10.1093/nar/gkad254.Peer-Reviewed Original ResearchConceptsLineage treesCell ancestryCell lineage treesFirst cell divisionStem cell linesPluripotent stem cell lineLineage reconstructionInduced pluripotent stem cell lineCell divisionCancer progressionLineage representationCell linesMosaic mutationsHuman skin fibroblastsTreesMutationsAncestrySkin fibroblastsMultiple cellsGenomeLineagesZygotesLinesFibroblastsCellsCharacteristics of trichotillomania and excoriation disorder across the lifespan
Lin A, Farhat L, Flores J, Levine J, Fernandez T, Bloch M, Olfson E. Characteristics of trichotillomania and excoriation disorder across the lifespan. Psychiatry Research 2023, 322: 115120. PMID: 36842397, PMCID: PMC10023474, DOI: 10.1016/j.psychres.2023.115120.Peer-Reviewed Original ResearchConceptsExcoriation disorderClinical characteristicsSkin-picking severityAttention-deficit/hyperactivity disorderCo-occurring conditionsBody-focused repetitive behaviorsObsessive-compulsive disorderSeverity scoreCurrent symptomsSignificant positive correlationTrichotillomaniaHyperactivity disorderDisordersSelf-reported anxietyAge 4High rateSubtypesSelf-report measuresSeverityCross-sectional survey responsesRepetitive behaviorsAdulthoodPositive correlationGenome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome
Tsetsos F, Topaloudi A, Jain P, Yang Z, Yu D, Kolovos P, Tumer Z, Rizzo R, Hartmann A, Depienne C, Worbe Y, Müller-Vahl K, Cath D, Boomsma D, Wolanczyk T, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Padmanabhuni S, Buxbaum J, Grice D, Glennon J, Stefansson H, Hengerer B, Yannaki E, Stamatoyannopoulos J, Benaroya-Milshtein N, Cardona F, Hedderly T, Heyman I, Huyser C, Mir P, Morer A, Mueller N, Munchau A, Plessen K, Porcelli C, Roessner V, Walitza S, Schrag A, Martino D, Group T, TSAICG T, Barr C, Batterson J, Berlin C, Budman C, Coppola G, Cox N, Darrow S, Dion Y, Freimer N, Grados M, Greenberg E, Hirschtritt M, Huang A, Illmann C, King R, Kurlan R, Leckman J, Lyon G, Malaty I, McMahon W, Neale B, Okun M, Osiecki L, Robertson M, Rouleau G, Sandor P, Singer H, Smit J, Sul J, Initiative T, Androutsos C, Basha E, Farkas L, Fichna J, Janik P, Kapisyzi M, Karagiannidis I, Koumoula A, Nagy P, Puchala J, Szejko N, Szymanska U, Tsironi V, Group T, Apter A, Ball J, Bodmer B, Bognar E, Buse J, Vela M, Fremer C, Garcia-Delgar B, Gulisano M, Hagen A, Hagstrøm J, Madruga-Garrido M, Pellico A, Ruhrman D, Schnell J, Silvestri P, Skov L, Steinberg T, Gloor F, Turner V, Weidinger E, Network T, Alexander J, Aranyi T, Buisman W, Buitelaar J, Driessen N, Drineas P, Fan S, Forde N, Gerasch S, van den Heuvel O, Jespersgaard C, Kanaan A, Möller H, Nawaz M, Nespoli E, Pagliaroli L, Poelmans G, Pouwels P, Rizzo F, Veltman D, van der Werf Y, Widomska J, Zilhäo N, Group T, Brown L, Cheon K, Coffey B, Fernandez T, Gilbert D, Hong H, Ibanez-Gomez L, Kim E, Kim Y, Kim Y, Koh Y, Kook S, Kuperman S, Leventhal B, Maras A, Murphy T, Shin E, Song D, Song J, State M, Visscher F, Wang S, Zinner S, Tischfield J, Heiman G, Willsey A, Dietrich A, Davis L, Crowley J, Mathews C, Scharf J, Georgitsi M, Hoekstra P, Paschou P. Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome. Biological Psychiatry 2023, 96: 114-124. PMID: 36738982, PMCID: PMC10783199, DOI: 10.1016/j.biopsych.2023.01.023.Peer-Reviewed Original ResearchExpression quantitative trait lociGenome-wide significant lociWide association study dataComplex genetic architectureQuantitative trait lociAssociation study dataGenetic architectureTrait lociChromosome 5q15Significant lociSignificant enrichmentLociNovel insightsNeurodevelopmental disordersChildhood-onset neurodevelopmental disorderHistonesRNAsGenesPolygenic riskFuture studiesEnrichment
2022
Whole‐exome DNA sequencing in childhood anxiety disorders identifies rare de novo damaging coding variants
Olfson E, Lebowitz ER, Hommel G, Pashankar N, Silverman WK, Fernandez TV. Whole‐exome DNA sequencing in childhood anxiety disorders identifies rare de novo damaging coding variants. Depression And Anxiety 2022, 39: 474-484. PMID: 35312124, PMCID: PMC9246845, DOI: 10.1002/da.23251.Peer-Reviewed Original ResearchConceptsWhole-exome DNA sequencingRisk genesDNA sequencingCanonical biological pathwaysMissense genetic variantsNovo variantsGenetic variant detectionParent-child triosGenomic approachesDe novo variantsLikely geneBiologic pathwaysDeleterious variantsBiological pathwaysDamaging variantsGenesGenetic variantsPathwayVariant detectionSequencingNetwork analysisGenetic factorsUnderlying biologyVariantsEnrichmentGenetic susceptibility in Tourette syndrome
Abdallah SB, Fernandez TV (2022). Genetic susceptibility in Tourette syndrome. In D Martino & JF Leckman (Eds), Tourette Syndrome, 2nd Edition, Oxford: Oxford University Press.ChaptersThe genetic basis of Gilles de la Tourette syndrome
Abdallah S, Realbuto E, Kaka M, Yang K, Topaloudi A, Paschou P, Scharf J, Fernandez T. The genetic basis of Gilles de la Tourette syndrome. International Review Of Movement Disorders 2022, 4: 3-38. DOI: 10.1016/bs.irmvd.2022.07.001.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsGenome-wide association studiesGenetic architectureCell type-specific gene expressionAssociation studiesComplex genetic architectureSingle causative geneFull genetic architectureSpecific gene expressionCandidate gene association studiesComprehensive genomic studiesCommon variant effectsPleiotropic gene effectsCommon genetic variantsGene association studiesEpigenetic marksGene regulationIndividual genesGenomic studiesLarge-scale approachGenetic basisGene expressionWhole-exome sequencing analysisBiological processesBiological pathwaysMendelian inheritance
2021
Investigation of gene–environment interactions in relation to tic severity
Abdulkadir M, Yu D, Osiecki L, King RA, Fernandez TV, Brown LW, Cheon KA, Coffey BJ, Garcia-Delgar B, Gilbert DL, Grice DE, Hagstrøm J, Hedderly T, Heyman I, Hong HJ, Huyser C, Ibanez-Gomez L, Kim YK, Kim YS, Koh YJ, Kook S, Kuperman S, Leventhal B, Madruga-Garrido M, Maras A, Mir P, Morer A, Münchau A, Plessen KJ, Roessner V, Shin EY, Song DH, Song J, Visscher F, Zinner SH, Mathews CA, Scharf JM, Tischfield JA, Heiman GA, Dietrich A, Hoekstra PJ. Investigation of gene–environment interactions in relation to tic severity. Journal Of Neural Transmission 2021, 128: 1757-1765. PMID: 34389898, PMCID: PMC8536549, DOI: 10.1007/s00702-021-02396-y.Peer-Reviewed Original ResearchWhole-exome sequencing identifies genes associated with Tourette’s disorder in multiplex families
Cao X, Zhang Y, Abdulkadir M, Deng L, Fernandez TV, Garcia-Delgar B, Hagstrøm J, Hoekstra PJ, King RA, Koesterich J, Kuperman S, Morer A, Nasello C, Plessen KJ, Thackray JK, Zhou L, Dietrich A, Tischfield J, Heiman G, Xing J. Whole-exome sequencing identifies genes associated with Tourette’s disorder in multiplex families. Molecular Psychiatry 2021, 26: 6937-6951. PMID: 33837273, PMCID: PMC8501157, DOI: 10.1038/s41380-021-01094-1.Peer-Reviewed Original ResearchConceptsCandidate genesProtein-protein interaction networkGene ontology categoriesHigh-throughput sequencingStrong candidate geneCandidate gene expressionFamily member 1Heritable neurodevelopmental disorderIdentifies genesNovel genesOntology categoriesNeurodevelopmental disordersMultiplex familiesInteraction networksPolygenic natureBiological insightsGene expressionFunction predictionWhole-exome sequencingGenesGenetic variantsSegregation patternsGenetic heterogeneitySegregation informationMember 1Early developmental asymmetries in cell lineage trees in living individuals
Fasching L, Jang Y, Tomasi S, Schreiner J, Tomasini L, Brady MV, Bae T, Sarangi V, Vasmatzis N, Wang Y, Szekely A, Fernandez TV, Leckman JF, Abyzov A, Vaccarino FM. Early developmental asymmetries in cell lineage trees in living individuals. Science 2021, 371: 1245-1248. PMID: 33737484, PMCID: PMC8324008, DOI: 10.1126/science.abe0981.Peer-Reviewed Original Research
2020
Leveraging aggression risk gene expression in the developing and adult human brain to guide future precision interventions
Kim A, Rader SL, Fernandez TV, Vandekar SN, Lewis AS. Leveraging aggression risk gene expression in the developing and adult human brain to guide future precision interventions. Molecular Psychiatry 2020, 26: 2680-2682. PMID: 33046832, PMCID: PMC8039055, DOI: 10.1038/s41380-020-00903-3.Peer-Reviewed Original Research