2025
Chapter 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
Transgenerational transmission of post-zygotic mutations suggests symmetric contribution of first two blastomeres to human germline.
Jang Y, Tomasini L, Bae T, Szekely A, Vaccarino FM, Abyzov A. Transgenerational transmission of post-zygotic mutations suggests symmetric contribution of first two blastomeres to human germline. Nat Commun 2024, 15: 9117. PMID: 39438473, DOI: 10.1038/s41467-024-53485-x.Peer-Reviewed Original ResearchTourette syndrome
Abdallah SB, Fasching L, Brady M, Bloch MH, Lombroso P, Vaccarino FM, Fernandez TV. Tourette syndrome. In: Rosenberg RN, Pascual JM, editors. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition San Diego, CA: Elsevier/Academic Press; 2024. Chapter 53; p.951-962.ChaptersElevated antibody binding to striatal cholinergic interneurons in patients with pediatric acute-onset neuropsychiatric syndrome
Xu J, Frankovich J, Liu R, Thienemann M, Silverman M, Farhadian B, Willett T, Manko C, Columbo L, Leibold C, Vaccarino F, Che A, Pittenger C. Elevated antibody binding to striatal cholinergic interneurons in patients with pediatric acute-onset neuropsychiatric syndrome. Brain Behavior And Immunity 2024, 122: 241-255. PMID: 39084540, DOI: 10.1016/j.bbi.2024.07.044.Peer-Reviewed Original ResearchPediatric Autoimmune Neuropsychiatric Disorders Associated with StreptococcusPediatric acute-onset neuropsychiatric syndromeStriatal cholinergic interneuronsCholinergic interneuronsObsessive-compulsive symptomsModulate basal ganglia functionNeuropsychiatric syndromeSignificant obsessive-compulsive symptomsBasal ganglia functionEx vivo brain slicesSevere food restrictionElevated antibodiesClinical historyPatient plasmaNeuropsychiatric manifestationsStreptococcus infectionBrain slicesSymptom flaresControl plasmaFood restrictionSerum antibodiesHuman brainInfectionAbrupt onsetClinical contextEarly Developmental Origins of Cortical Disorders Modeled in Human Neural Stem Cells.
Mato-Blanco X, Kim SK, Jourdon A, Ma S, Tebbenkamp ATN, Liu F, Duque A, Vaccarino FM, Sestan N, Colantuoni C, Rakic P, Santpere G, Micali N. Early Developmental Origins of Cortical Disorders Modeled in Human Neural Stem Cells. BioRxiv 2024 PMID: 38915580, DOI: 10.1101/2024.06.14.598925.Peer-Reviewed Original ResearchMassively parallel characterization of regulatory elements in the developing human cortex
Deng C, Whalen S, Steyert M, Ziffra R, Przytycki P, Inoue F, Pereira D, Capauto D, Norton S, Vaccarino F, Pollen A, Nowakowski T, Ahituv N, Pollard K, Akbarian S, Abyzov A, Ahituv N, Arasappan D, Almagro Armenteros J, Beliveau B, Bendl J, Berretta S, Bharadwaj R, Bhattacharya A, Bicks L, Brennand K, Capauto D, Champagne F, Chatterjee T, Chatzinakos C, Chen Y, Chen H, Cheng Y, Cheng L, Chess A, Chien J, Chu Z, Clarke D, Clement A, Collado-Torres L, Cooper G, Crawford G, Dai R, Daskalakis N, Davila-Velderrain J, Deep-Soboslay A, Deng C, DiPietro C, Dracheva S, Drusinsky S, Duan Z, Duong D, Dursun C, Eagles N, Edelstein J, Emani P, Fullard J, Galani K, Galeev T, Gandal M, Gaynor S, Gerstein M, Geschwind D, Girdhar K, Goes F, Greenleaf W, Grundman J, Guo H, Guo Q, Gupta C, Hadas Y, Hallmayer J, Han X, Haroutunian V, Hawken N, He C, Henry E, Hicks S, Ho M, Ho L, Hoffman G, Huang Y, Huuki-Myers L, Hwang A, Hyde T, Iatrou A, Inoue F, Jajoo A, Jensen M, Jiang L, Jin P, Jin T, Jops C, Jourdon A, Kawaguchi R, Kellis M, Khullar S, Kleinman J, Kleopoulos S, Kozlenkov A, Kriegstein A, Kundaje A, Kundu S, Lee C, Lee D, Li J, Li M, Lin X, Liu S, Liu J, Liu J, Liu C, Liu S, Lou S, Loupe J, Lu D, Ma S, Ma L, Margolis M, Mariani J, Martinowich K, Maynard K, Mazariegos S, Meng R, Myers R, Micallef C, Mikhailova T, Ming G, Mohammadi S, Monte E, Montgomery K, Moore J, Moran J, Mukamel E, Nairn A, Nemeroff C, Ni P, Norton S, Nowakowski T, Omberg L, Page S, Park S, Patowary A, Pattni R, Pertea G, Peters M, Phalke N, Pinto D, Pjanic M, Pochareddy S, Pollard K, Pollen A, Pratt H, Przytycki P, Purmann C, Qin Z, Qu P, Quintero D, Raj T, Rajagopalan A, Reach S, Reimonn T, Ressler K, Ross D, Roussos P, Rozowsky J, Ruth M, Ruzicka W, Sanders S, Schneider J, Scuderi S, Sebra R, Sestan N, Seyfried N, Shao Z, Shedd N, Shieh A, Shin J, Skarica M, Snijders C, Song H, State M, Stein J, Steyert M, Subburaju S, Sudhof T, Snyder M, Tao R, Therrien K, Tsai L, Urban A, Vaccarino F, van Bakel H, Vo D, Voloudakis G, Wamsley B, Wang T, Wang S, Wang D, Wang Y, Warrell J, Wei Y, Weimer A, Weinberger D, Wen C, Weng Z, Whalen S, White K, Willsey A, Won H, Wong W, Wu H, Wu F, Wuchty S, Wylie D, Xu S, Yap C, Zeng B, Zhang P, Zhang C, Zhang B, Zhang J, Zhang Y, Zhou X, Ziffra R, Zeier Z, Zintel T. Massively parallel characterization of regulatory elements in the developing human cortex. Science 2024, 384: eadh0559. PMID: 38781390, DOI: 10.1126/science.adh0559.Peer-Reviewed Original ResearchConceptsGene regulatory elementsRegulatory elementsRegulation of enhancer activityCharacterization of regulatory elementsCis-regulatory activityNeuronal developmentPrimary cellsEnhanced activityGene regulationHuman neuronal developmentNucleotide changesEnhancer sequencesSequence basisUpstream regulatorComprehensive catalogHuman cellsDeveloping cortexSequenceVariantsOrganoidsCellsCerebral organoidsCortexHuman cortexNucleotideEvaluating performance and applications of sample-wise cell deconvolution methods on human brain transcriptomic data
Dai R, Chu T, Zhang M, Wang X, Jourdon A, Wu F, Mariani J, Vaccarino F, Lee D, Fullard J, Hoffman G, Roussos P, Wang Y, Wang X, Pinto D, Wang S, Zhang C, consortium P, Chen C, Liu C. Evaluating performance and applications of sample-wise cell deconvolution methods on human brain transcriptomic data. Science Advances 2024, 10: eadh2588. PMID: 38781336, PMCID: PMC11114236, DOI: 10.1126/sciadv.adh2588.Peer-Reviewed Original ResearchConceptsHuman brain transcriptome dataBrain transcriptomic dataRNA-seqTranscriptome dataCell-type gene expressionGene expressionCell-type proportionsSingle-cell dataMultiple brain disordersBrain cell typesCell deconvolution methodsPostmortem brainsRNA sequencingBrain disordersBrain developmentSchizophreniaEQTLAlzheimer's diseaseCell typesOrganoid samplesBrainBiological applicationsSpecification of human regional brain lineages using orthogonal gradients of WNT and SHH in organoids.
Scuderi S, Kang TY, Jourdon A, Yang L, Wu F, Nelson A, Anderson GM, Mariani J, Sarangi V, Abyzov A, Levchenko A, Vaccarino FM. Specification of human regional brain lineages using orthogonal gradients of WNT and SHH in organoids. BioRxiv 2024 PMID: 38798404, DOI: 10.1101/2024.05.18.594828.Peer-Reviewed Original ResearchCharacterization of enhancer activity in early human neurodevelopment using Massively Parallel Reporter Assay (MPRA) and forebrain organoids
Capauto D, Wang Y, Wu F, Norton S, Mariani J, Inoue F, Crawford G, Ahituv N, Abyzov A, Vaccarino F. Characterization of enhancer activity in early human neurodevelopment using Massively Parallel Reporter Assay (MPRA) and forebrain organoids. Scientific Reports 2024, 14: 3936. PMID: 38365907, PMCID: PMC10873509, DOI: 10.1038/s41598-024-54302-7.Peer-Reviewed Original ResearchConceptsMassively parallel reporter assaysGene expressionRegulation of gene expressionForebrain organoidsHuman fetal tissuesHigh-throughput assayReporter assayFetal tissuesStem cellsNeurodevelopmentHuman neurodevelopmentActivation signalsEnhanced activityGenesOrganoidsForebrainBrain organoidsAssayBrain
2023
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases
Garrison M, Jang Y, Bae T, Cherskov A, Emery S, Fasching L, Jones A, Moldovan J, Molitor C, Pochareddy S, Peters M, Shin J, Wang Y, Yang X, Akbarian S, Chess A, Gage F, Gleeson J, Kidd J, McConnell M, Mills R, Moran J, Park P, Sestan N, Urban A, Vaccarino F, Walsh C, Weinberger D, Wheelan S, Abyzov A. Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases. Scientific Data 2023, 10: 813. PMID: 37985666, PMCID: PMC10662356, DOI: 10.1038/s41597-023-02645-7.Peer-Reviewed Original ResearchMODELING OF CHILDHOOD NEUROPSYCHIATRIC DISORDERS
Vaccarino F. MODELING OF CHILDHOOD NEUROPSYCHIATRIC DISORDERS. IBRO Neuroscience Reports 2023, 15: s35-s36. DOI: 10.1016/j.ibneur.2023.08.2120.Peer-Reviewed Original ResearchAuthor Correction: Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis
Jourdon A, Wu F, Mariani J, Capauto D, Norton S, Tomasini L, Amiri A, Suvakov M, Schreiner J, Jang Y, Panda A, Nguyen C, Cummings E, Han G, Powell K, Szekely A, McPartland J, Pelphrey K, Chawarska K, Ventola P, Abyzov A, Vaccarino F. Author Correction: Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis. Nature Neuroscience 2023, 26: 2035-2035. PMID: 37674007, DOI: 10.1038/s41593-023-01447-9.Peer-Reviewed Original ResearchAuthor Correction: Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia
Zhu X, Zhou B, Pattni R, Gleason K, Tan C, Kalinowski A, Sloan S, Fiston-Lavier A, Mariani J, Petrov D, Barres B, Duncan L, Abyzov A, Vogel H, Moran J, Vaccarino F, Tamminga C, Levinson D, Urban A. Author Correction: Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia. Nature Neuroscience 2023, 26: 1833-1833. PMID: 37648813, DOI: 10.1038/s41593-023-01438-w.Peer-Reviewed Original ResearchModeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis
Jourdon A, Wu F, Mariani J, Capauto D, Norton S, Tomasini L, Amiri A, Suvakov M, Schreiner J, Jang Y, Panda A, Nguyen C, Cummings E, Han G, Powell K, Szekely A, McPartland J, Pelphrey K, Chawarska K, Ventola P, Abyzov A, Vaccarino F. Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis. Nature Neuroscience 2023, 26: 1505-1515. PMID: 37563294, PMCID: PMC10573709, DOI: 10.1038/s41593-023-01399-0.Peer-Reviewed Original ResearchConceptsIdiopathic autism spectrum disorderCortical neuron subtypesAutism spectrum disorderEarly cortical developmentCortical organoidsCortical plateExcitatory neuronsCortical developmentRare formNeuron subtypesUnaffected fatherASD pathogenesisForebrain organoidsEarly neurogenesisRare variantsIdiopathic autismRisk genesTranscriptomic alterationsNeuronsProbandsSingle-cell transcriptomicsForebrain developmentSpectrum disorderTranscriptomic changesAlterationsEarly Neuronal Differentiation/patterning of the Human Pallium, Modeling by in Vitro Systems, and Disruption in Developmental Disorders
Scuderi S, Jourdon A, Vaccarino F. Early Neuronal Differentiation/patterning of the Human Pallium, Modeling by in Vitro Systems, and Disruption in Developmental Disorders. 2023, 423-442. DOI: 10.1002/9781119860914.ch20.Peer-Reviewed Original ResearchCentral nervous systemDorsal-anterior partHuman cortexCortical developmentInhibitory neuronsSingle-cell omicsAnimal modelsNervous systemCortical layersMammalian brainBrain regionsCortical formationPopulations of excitatoryTangential migrationAltered developmentCortical structuresAnterior partCortical patterningPrecursor cellsEarly neuronal differentiationIncoming afferentsCortexNeuronal differentiationNeuronsHuman specificityEfficient 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 cellsGenomeLineagesZygotesLinesFibroblastsCellsClonally Selected Lines After CRISPR-Cas Editing Are Not Isogenic
Panda A, Suvakov M, Mariani J, Drucker K, Park Y, Jang Y, Kollmeyer T, Sarkar G, Bae T, Kim J, Yoon W, Jenkins R, Vaccarino F, Abyzov A. Clonally Selected Lines After CRISPR-Cas Editing Are Not Isogenic. The CRISPR Journal 2023, 6: 176-182. PMID: 37071670, PMCID: PMC10123805, DOI: 10.1089/crispr.2022.0050.Peer-Reviewed Original ResearchConceptsCopy number alterationsSeparate genomic lociSingle nucleotide mutationsApplication of CRISPRCRISPR-Cas editingOff-target editsScreening of clonesGenomic divergenceWhole-genome sequencingGenomic lociSelection of clonesGenome sequencingNucleotide mutationsTarget editsCultured cellsClonal linesNumber alterationsCell cloningClonesMutationsCloningCRISPRNeonatal loss of FGFR2 in astroglial cells affects locomotion, sociability, working memory, and glia-neuron interactions in mice
Stevens H, Scuderi S, Collica S, Tomasi S, Horvath T, Vaccarino F. Neonatal loss of FGFR2 in astroglial cells affects locomotion, sociability, working memory, and glia-neuron interactions in mice. Translational Psychiatry 2023, 13: 89. PMID: 36906620, PMCID: PMC10008554, DOI: 10.1038/s41398-023-02372-y.Peer-Reviewed Original ResearchConceptsFibroblast growth factor receptor 2Anxiety-like behaviorAttention deficit hyperactivity disorderAstroglial cellsGrowth factor receptor 2Reduced anxiety-like behaviorGlia-neuron interactionsAstroglial cell functionEarly postnatal periodFactor receptor 2Early postnatal lossPostnatal mouse brainWeeks of ageDeficit hyperactivity disorderGlial cellsGlutamine synthetase expressionBehavioral deficitsPostnatal periodReceptor 2Floxed miceHGFAP-CreMouse brainNeonatal lossPostnatal astrogliaPostnatal lossMaternal FGF2 levels associated with child anxiety and depression symptoms through child FGF2 levels
Lebowitz E, Marin C, Orbach M, Salmaso N, Vaccarino F, Silverman W. Maternal FGF2 levels associated with child anxiety and depression symptoms through child FGF2 levels. Journal Of Affective Disorders 2023, 326: 193-197. PMID: 36717031, PMCID: PMC10104478, DOI: 10.1016/j.jad.2023.01.090.Peer-Reviewed Original ResearchConceptsFGF2 levelsDepressive symptomsDepression symptomsChild anxietySymptoms of anxietyRatings of anxietyGrowth factor 2Maternal anxietySymptomsDepressed childrenDepressionChild depressionMothersChildrenFactor 2Self-report ratingsAnxietyIntergenerational pathwaysNon-referred childrenRange of anxietyFGF2AssociationLevelsMaternalEnhancer-driven regulatory network of forebrain human development provides insights into autism
Jourdon A, Mariani J, Wu F, Capauto D, Norton S, Tomasini L, Amiri A, Schreiner J, Khanh Nguyen C, Nolan N, Szekely A, McPartland JC, Pelphrey K, Chawarska K, Ventola P, Abyzov A, Vaccarino FM. Enhancer-driven regulatory network of forebrain human development provides insights into autism. BioRxiv. 2023 September. doi: 10.1101/2023.09.06.555206.Peer-Reviewed Original Research