Ellen J. Hoffman, MD, PhD
Associate Professor in the Child Study CenterDownloadHi-Res Photo
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Appointments
Child Study Center
Primary
Neuroscience
Secondary
Contact Info
Child Study Center
PO Box 207900, 230 South Frontage Road
New Haven, CT 06520
United States
About
Titles
Associate Professor in the Child Study Center
Biography
Ellen J. Hoffman, M.D., Ph.D. was appointed as Assistant Professor in the Child Study Center in July 2015. Ellen is a child psychiatrist, psychiatric geneticist and neurobiologist, and a graduate of the Investigative Medicine PhD Program at Yale, who specializes in the functional analysis of genes in neurodevelopmental disorders. The Hoffman laboratory conducts translational research aimed at understanding the biological mechanisms underlying autism spectrum disorders and discovering new pharmacological treatments. Ellen's research focuses on investigating the function of genes that are strongly associated with autism to determine how disruption of these genes alters brain development and the neural circuits underlying simple behaviors. The long-term goal of her research is to use this gene-based approach to identify relevant biological pathways and novel pharmacological treatments that target these pathways. Ellen also works clinically as a child psychiatrist and as an attending supervising Yale child psychiatry fellows.
Appointments
Child Study Center
Associate Professor on TermPrimaryNeuroscience
Associate Professor on TermSecondary
Other Departments & Organizations
Education & Training
- PhD
- Yale University, Investigative Medicine (2014)
- Research Fellowship
- Yale University (2011)
- Fellowship
- Mount Sinai School of Medicine (2008)
- Residency
- Mount Sinai School of Medicine (2006)
- MD
- Stony Brook School of Medicine (2003)
- BS
- SUNY at Stonybrook (1999)
Board Certifications
Child & Adolescent Psychiatry
- Certification Organization
- AB of Psychiatry & Neurology
- Latest Certification Date
- 2019
- Original Certification Date
- 2009
Psychiatry
- Certification Organization
- AB of Psychiatry & Neurology
- Latest Certification Date
- 2018
- Original Certification Date
- 2008
Research
Overview
Medical Subject Headings (MeSH)
Autistic Disorder; Child Psychiatry; Genetics; Neurobiology; Neuropharmacology; Neurosciences; Pharmacology; Translational Research, Biomedical; Zebrafish
ORCID
0000-0002-5083-1369- View Lab Website
Hoffman Lab website
Research at a Glance
Yale Co-Authors
Frequent collaborators of Ellen J. Hoffman's published research.
Publications Timeline
A big-picture view of Ellen J. Hoffman's research output by year.
Research Interests
Research topics Ellen J. Hoffman is interested in exploring.
Abha Gupta, MD, PhD
Catherine Sullivan
Duy Phan, PhD
Emily Olfson, MD/PhD
Sarah Barbara Abdallah, MD
Thomas Fernandez, MD
44Publications
2,224Citations
Zebrafish
Autistic Disorder
Publications
2024
FROM THE BENCH TO THE BEDSIDE: EMERGING MECHANISMS IN ASD
Manoli D, Hoffman E, State M. FROM THE BENCH TO THE BEDSIDE: EMERGING MECHANISMS IN ASD. Journal Of The American Academy Of Child & Adolescent Psychiatry 2024, 63: s333. DOI: 10.1016/j.jaac.2024.07.716.Peer-Reviewed Original ResearchReview: 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 ResearchAltmetricConceptsGenetic 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
Brain Registration and Evaluation for Zebrafish (BREEZE)-mapping: A pipeline for whole-brain structural and activity analyses
Jin D, Neelakantan U, Lacadie C, Chen T, Rooney B, Liu Y, Wu W, Wang Z, Papademetris X, Hoffman E. Brain Registration and Evaluation for Zebrafish (BREEZE)-mapping: A pipeline for whole-brain structural and activity analyses. STAR Protocols 2023, 4: 102647. PMID: 37897734, PMCID: PMC10641303, DOI: 10.1016/j.xpro.2023.102647.Peer-Reviewed Original ResearchAltmetricPrimary 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 ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsRisk 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 transportFrom Bench to Bedside: Neural, Molecular, and Genetic Mechanisms Contributing to ASD
Hoffman E, Manoli D, State M. From Bench to Bedside: Neural, Molecular, and Genetic Mechanisms Contributing to ASD. Journal Of The American Academy Of Child & Adolescent Psychiatry 2023, 62: s399-s400. DOI: 10.1016/j.jaac.2023.07.898.Peer-Reviewed Original ResearchHigh-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 ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsGene 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 ResearchCitationsAltmetricConceptsASD 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 investigationsPTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets
DeSpenza T, Carlson M, Panchagnula S, Robert S, Duy PQ, Mermin-Bunnell N, Reeves BC, Kundishora A, Elsamadicy AA, Smith H, Ocken J, Alper SL, Jin SC, Hoffman EJ, Kahle KT. PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets. Trends In Neurosciences 2021, 44: 961-976. PMID: 34625286, PMCID: PMC8692171, DOI: 10.1016/j.tins.2021.08.007.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsDevelopmental pleiotropyPTEN-PI3KMTOR pathwayMolecular pathophysiologyPTEN mutationsMolecular similarityTherapeutic targetCommon underlying mechanismNeurodevelopmental disordersUnderlying mechanismTherapeutic promisePleiotropyBiologyPhenotypicMutationsLimited understandingPathwayCommon neurodevelopmental disorderAutism spectrum disorderSimilarityTargetChromosomal Abnormalities
Hoffman E. Chromosomal Abnormalities. 2021, 950-953. DOI: 10.1007/978-3-319-91280-6_1319.Chapters
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PO Box 207900, 230 South Frontage Road
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