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
High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways
Mendes H, Neelakantan U, Liu Y, Fitzpatrick S, Chen T, Wu W, Pruitt A, Jin D, Jamadagni P, Carlson M, Lacadie C, Enriquez K, Li N, Zhao D, Ijaz S, Sakai C, Szi C, Rooney B, Ghosh M, Nwabudike I, Gorodezky A, Chowdhury S, Zaheer M, McLaughlin S, Fernandez J, Wu J, Eilbott J, Vander Wyk B, Rihel J, Papademetris X, Wang Z, Hoffman E. High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways. Cell Reports 2023, 42: 112243. PMID: 36933215, PMCID: PMC10277173, DOI: 10.1016/j.celrep.2023.112243.Peer-Reviewed Original ResearchConceptsGene lossFunctional analysisHigh-throughput functional analysisZebrafish mutantsGene discoverySelect mutantsASD genesAutism genesKey pathwaysASD biologyBrain size differencesMutantsGenesSize differencesPathwayGlobal increaseRelevant mechanismsBiologyCentral challengeNeuroimmune dysfunctionRegionFunctionDiscoveryAutism spectrum disorder
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