2024
Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic
Fitzpatrick S, Antony I, Nurmi E, Fernandez T, Chung W, Brownstein C, Gonzalez-Heydrich J, Gur R, Merner A, Lázaro-Muñoz G, State M, Simon K, Hoffman E. Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic. JAACAP Open 2024 DOI: 10.1016/j.jaacop.2024.06.002.Peer-Reviewed Original ResearchGenetic testingHigh-confidence risk genesPsychiatric geneticsApproaches to gene discoveryGenetic researchTranslational genetic researchClinical genetic testingEra of genomicsWhole-exome sequencingChild psychiatric disordersGenetic architectureGene discoveryClinical evaluationPharmacogenetic testingExome sequencingRisk genesGenetic underpinningsGenetic findingsEarly-onset psychosisPsychiatric disordersGenetic conceptsGeneticsLack of familiarityClinical practiceObsessive-compulsive disorder
2023
Primary 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 transport
2021
Signaling Pathways and Sex Differential Processes in Autism Spectrum Disorder
Enriquez KD, Gupta AR, Hoffman EJ. Signaling Pathways and Sex Differential Processes in Autism Spectrum Disorder. Frontiers In Psychiatry 2021, 12: 716673. PMID: 34690830, PMCID: PMC8531220, DOI: 10.3389/fpsyt.2021.716673.Peer-Reviewed Original ResearchASD genetic studiesBiological pathwaysGenetic studiesRisk gene discoveryCellular pathways downstreamASD risk genesWhole-exome sequencing studiesCommon biological pathwaysGene discoveryPathways downstreamGene expressionSequencing studiesRisk genesMale biasPathwayGenesNeuronal communicationCommon pathwayPotential roleFemale protective effectNeurodevelopmental disordersRecent analysisTranscriptomicsGenomicsRecent investigations
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
Zebrafish Models of Neurodevelopmental Disorders: Past, Present, and Future
Sakai C, Ijaz S, Hoffman EJ. Zebrafish Models of Neurodevelopmental Disorders: Past, Present, and Future. Frontiers In Molecular Neuroscience 2018, 11: 294. PMID: 30210288, PMCID: PMC6123572, DOI: 10.3389/fnmol.2018.00294.Peer-Reviewed Original ResearchGene functionZebrafish modelCRISPR/Cas9 geneSmall-molecule suppressorTransparent embryosZebrafish systemHigh-throughput pharmacological screensNeurodevelopmental disordersGenetic manipulationCas9 geneBehavioral phenotypesLarge progenyFunctional analysisLarval stagesPharmacological screensZebrafishRisk genesGenesModel systemExternal developmentPhenotypeCircuit-level mechanismsBasic mechanismsNeural circuitsNervous system
2016
Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2
Hoffman EJ, Turner KJ, Fernandez JM, Cifuentes D, Ghosh M, Ijaz S, Jain RA, Kubo F, Bill BR, Baier H, Granato M, Barresi MJ, Wilson SW, Rihel J, State MW, Giraldez AJ. Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2. Neuron 2016, 89: 725-733. PMID: 26833134, PMCID: PMC4766582, DOI: 10.1016/j.neuron.2015.12.039.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnimals, Genetically ModifiedAutistic DisorderDisease Models, AnimalEstrogensGene Expression RegulationGenisteinGreen Fluorescent ProteinsHumansLarvaLuminescent ProteinsMembrane ProteinsMotor ActivityMutationNerve Tissue ProteinsPhenotypePhytoestrogensPsychotropic DrugsSeizuresSleep-Wake Transition DisordersVesicular Glutamate Transport Protein 2Zebrafish