2021
A neurogenetic analysis of female autism
Jack A, Sullivan CAW, Aylward E, Bookheimer SY, Dapretto M, Gaab N, Van Horn JD, Eilbott J, Jacokes Z, Torgerson CM, Bernier RA, Geschwind DH, McPartland JC, Nelson CA, Webb SJ, Pelphrey KA, Gupta AR, Bernier R, McPartland J, Ventola P, Kresse A, Neuhaus E, Corrigan S, Wolf J, McDonald N, Ankenman K, Webb S, Jeste S, Nelson C, Naples A, Libsack E, Pelphrey K, Aylward E, Bookheimer S, Gaab N, Dapretto M, Van Horn J, Jack A, Guilford D, Torgerson C, Welker O, Geschwind D, Gupta A, Sullivan C, Lowe J, Jacokes Z, MacDonnell E, Tsapelas H, Depedro-Mercier D, Keifer C, Ventola P. A neurogenetic analysis of female autism. Brain 2021, 144: 1911-1926. PMID: 33860292, PMCID: PMC8320285, DOI: 10.1093/brain/awab064.Peer-Reviewed Original ResearchLanguage and Aggressive Behaviors in Male and Female Youth with Autism Spectrum Disorder
Neuhaus E, Kang VY, Kresse A, Corrigan S, Aylward E, Bernier R, Bookheimer S, Dapretto M, Jack A, Jeste S, McPartland JC, Van Horn JD, Pelphrey K, Webb SJ. Language and Aggressive Behaviors in Male and Female Youth with Autism Spectrum Disorder. Journal Of Autism And Developmental Disorders 2021, 52: 454-462. PMID: 33682042, PMCID: PMC9407024, DOI: 10.1007/s10803-020-04773-0.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderSpectrum disorderChild/family factorsAggressive behaviorSocial-emotional difficultiesCommunication skillsPattern of resultsTypical developmentBroader contextual factorsFamily factorsDisruptive behaviorSevere aggressionAggressionFemale youthFamily characteristicsIntervention methodsContextual factorsImportant correlatesLow family incomeYouthSkillsFamily incomeDisordersDifficultiesBehavior
2020
Neural responsivity to social rewards in autistic female youth
Lawrence KE, Hernandez LM, Eilbott J, Jack A, Aylward E, Gaab N, Van Horn JD, Bernier RA, Geschwind DH, McPartland JC, Nelson CA, Webb SJ, Pelphrey KA, Bookheimer SY, Dapretto M. Neural responsivity to social rewards in autistic female youth. Translational Psychiatry 2020, 10: 178. PMID: 32488083, PMCID: PMC7266816, DOI: 10.1038/s41398-020-0824-8.Peer-Reviewed Original ResearchConceptsImplicit learning taskSocial rewardsAutistic girlsAutistic boysLearning taskSocial reward processingSocial reward systemFemale youthPrevious neuroimaging studiesFunctional magnetic resonanceLateral frontal cortexSocial stimuliNeural responsivityReward processingSocial motivationRewarding stimuliAnterior insulaGreater activityNeural activationNeuroimaging studiesPotential sex differencesRewarding natureSalience detectionAutistic femalesBehavioral evidence
2019
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism
Cappi C, Oliphant ME, Péter Z, Zai G, Conceição do Rosário M, Sullivan CAW, Gupta AR, Hoffman EJ, Virdee M, Olfson E, Abdallah SB, Willsey AJ, Shavitt RG, Miguel EC, Kennedy JL, Richter MA, Fernandez TV. De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism. Biological Psychiatry 2019, 87: 1035-1044. PMID: 31771860, PMCID: PMC7160031, DOI: 10.1016/j.biopsych.2019.09.029.Peer-Reviewed Original Research
2018
PAC1R Genotype to Phenotype Correlations in Autism Spectrum Disorder
Goodrich M, Armour AC, Panchapakesan K, You X, Devaney J, Knoblach S, Sullivan CAW, Herrero MJ, Gupta AR, Vaidya CJ, Kenworthy L, Corbin JG. PAC1R Genotype to Phenotype Correlations in Autism Spectrum Disorder. Autism Research 2018, 12: 200-211. PMID: 30556326, PMCID: PMC6665682, DOI: 10.1002/aur.2051.Peer-Reviewed Original ResearchConceptsResting-state functional connectivity differencesAutism spectrum disorderHuman amygdalaRight middle temporal gyrusFunctional connectivity differencesHigher functional connectivityEarly postnatal stagesNumerous neurodevelopmental disordersMiddle temporal gyrusGC genotypeBrain trajectoriesRisk genotypesSocial deficitsConnectivity differencesAmygdalaTemporal gyrusFunctional connectivityBrain connectivityPostnatal stagesTime pointsNeurodevelopmental disordersMiceCritical time pointsMultimodal approachPossible alterations
2017
Neurogenetic analysis of childhood disintegrative disorder
Gupta AR, Westphal A, Yang DYJ, Sullivan CAW, Eilbott J, Zaidi S, Voos A, Vander Wyk BC, Ventola P, Waqar Z, Fernandez TV, Ercan-Sencicek AG, Walker MF, Choi M, Schneider A, Hedderly T, Baird G, Friedman H, Cordeaux C, Ristow A, Shic F, Volkmar FR, Pelphrey KA. Neurogenetic analysis of childhood disintegrative disorder. Molecular Autism 2017, 8: 19. PMID: 28392909, PMCID: PMC5379515, DOI: 10.1186/s13229-017-0133-0.Peer-Reviewed Original ResearchAdaptor Proteins, Signal TransducingAutism Spectrum DisorderBasic Helix-Loop-Helix Transcription FactorsBrainBrain MappingCase-Control StudiesChildChild, PreschoolChromosomes, Human, XDisease ProgressionDNA Copy Number VariationsExome SequencingFemaleGene ExpressionHumansIntellectual DisabilityMagnetic Resonance ImagingMaleMaternal InheritanceNuclear ProteinsPhenotypePolymorphism, GeneticSeverity of Illness IndexSiblingsTranscription FactorsTranscriptome
2014
The contribution of de novo coding mutations to autism spectrum disorder
Iossifov I, O’Roak B, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M. The contribution of de novo coding mutations to autism spectrum disorder. Nature 2014, 515: 216-221. PMID: 25363768, PMCID: PMC4313871, DOI: 10.1038/nature13908.Peer-Reviewed Original ResearchConceptsLGD mutationsMissense mutationsWild-type alleleChromatin modifiersGene-disrupting mutationsGenetic architectureCopy number variantsDe novo mutationsDe novo missense mutationsWhole-exome sequencingHuman diseasesGenesNovo missense mutationNumber variantsLikely gene-disrupting mutationsMutationsDe novoNovo mutationsExome sequencingSimplex familiesTargetFMRPPowerful toolSimilar numberSequencingDe Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder
Dong S, Walker MF, Carriero NJ, DiCola M, Willsey AJ, Ye AY, Waqar Z, Gonzalez LE, Overton JD, Frahm S, Keaney JF, Teran NA, Dea J, Mandell JD, Bal V, Sullivan CA, DiLullo NM, Khalil RO, Gockley J, Yuksel Z, Sertel SM, Ercan-Sencicek AG, Gupta AR, Mane SM, Sheldon M, Brooks AI, Roeder K, Devlin B, State MW, Wei L, Sanders SJ. De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder. Cell Reports 2014, 9: 16-23. PMID: 25284784, PMCID: PMC4194132, DOI: 10.1016/j.celrep.2014.08.068.Peer-Reviewed Original Research