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Research at the Institute has been featured in significant publications including Nature, Neuron and other high impact journals.

200+ Peer-reviewed publications

Lieber Institute publications include important breakthroughs like a promising new treatment for a form of autism spectrum disorder and the discovery of specific molecular factors that contribute to genetic risk for mental disorders. Landmark studies from Institute investigators on the genetic and epigenetic regulation of gene expression in the human brain have revealed for the first time that risk factors for schizophrenia, both genetic and those environmental factors that leave a mark in adult brain, are principally related to early brain development and not to the tumultuous time of clinical diagnosis.

More information and links to select publications by year can be found below.

2024 Publications

Electrophysiological correlates of attention in the locus coeruleus-prelimbic cortex circuit during the rodent continuous performance test
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Hallock, et al. Neuropsychopharmacology, January 2024

2023 Publications

Challenges and opportunities to computationally deconvolve heterogeneous tissue with varying cell sizes using single-cell RNA-sequencing datasets
Read Online.
Maden, et al. Genome Biology, December 14, 2023

Spatially-resolved transcriptomics of human dentate gyrus across postnatal lifespan reveals heterogeneity in markers for proliferation, extracellular matrix, and neuroinflammation
Read Online.
Ramnauth, et al. bioRxiv [Preprint], December 4, 2023

Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases
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Garrison, et al. Scientific Data, November 20, 2023

Comparison of gene expression in living and postmortem human brain
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Collado-Torres, et al. medRxiv [Preprint], November 9, 2023

Recapitulation of Perturbed Striatal Gene Expression Dynamics of Donor’s Brains With Ventral Forebrain Organoids Derived From the Same Individuals With Schizophrenia
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Sawada, et al. American Journal of Psychiatry, November 2, 2023

Identification of a specific APOE transcript and functional elements associated with Alzheimer’s disease
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Chen, et al. medRxiv [Preprint], October 31, 2023

Dopaminergic signalling and behavioural alterations by Comt-Dtnbp1 genetic interaction and their clinical relevance
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Managò, et al. British Journal of Pharmacology, October 2023

Degrading stimuli by reducing image resolution impairs performance in a rodent continuous performance test
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DeBrosse, et al. Behav Processes, October 21, 2023

Data-driven identification of total RNA expression genes for estimation of RNA abundance in heterogeneous cell types highlighted in brain tissue
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Huuki-Myers, et al. Genome Biology, October 16, 2023

Investigating trait variability of gene co-expression network architecture in brain by controlling for genomic risk of schizophrenia
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Radulescu, et al. PLoS Genet, October 13, 2023

Genetic and environmental contributions to ancestry differences in gene expression in the human brain
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Benjamin, et al. bioRxiv [Preprint], October 5, 2023

Psychiatric risk gene Transcription Factor 4 (TCF4) regulates the density and connectivity of distinct inhibitory interneuron subtypes
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Chen, et al. Mol Psychiatry, September 28, 2023

Dopamine and schizophrenia from bench to bedside: Discovery of a striatal co-expression risk gene set that predicts in vivo measures of striatal function
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Sportelli, et al. bioRxiv [Preprint], September 21, 2023

Smoking-informed methylation and expression QTLs in human brain and colocalization with smoking-associated genetic loci
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Carnes, et al. medRxiv [Preprint], September 18, 2023

Activity-regulated gene expression across cell types of the mouse hippocampus
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Nelson, et al. Hippocampus, September 2023

TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons
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Davis, et al. Society of Biological Psychiatry, August 10, 2023

Changes in patterns of age-related network connectivity are associated with risk for schizophrenia
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Passiatore, et al. Proc Natl Acad Sci USA, August 8, 2023

Promyelinating drugs promote functional recovery in an autism spectrum disorder mouse model of Pitt-Hopkins syndrome
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Bohlen, et al. Brain, August 1, 2023

Deoxyhypusine hydroxylase: A novel therapeutic target differentially expressed in short-term vs long-term survivors of glioblastoma
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Ofek, et al. International Journal of Cancer, August 1, 2023

Activity-regulated gene expression across cell types of the mouse hippocampus
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Nelson, et al. Hippocampus, May 24, 2023

Dopaminergic signaling and behavioral alterations by Comt-Dtnbp1 genetic interaction and their clinical relevance
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Managò, et al. British Journal of Pharmacology, May 23, 2023

The IP6K Inhibitor LI-2242 Ameliorates Diet-Induced Obesity, Hyperglycemia, and Hepatic Steatosis in Mice by Improving Cell Metabolism and Insulin Signaling
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Mukherjee, et al. Biomolecules, May 20, 2023

Prioritization of potential causative genes for schizophrenia in placenta
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Ursini, et al. Nature Communications, May 15, 2023

A self-inspected adaptive SMOTE algorithm (SASMOTE) for highly imbalanced data classification in healthcare
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Kosolwattana, et al. BioData Mining, April 25, 2023

Electrophysiological correlates of attention in the locus coeruleus – anterior cingulate cortex circuit during the rodent continuous performance test
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Hallock, et al. bioRxiv (preprint), April 20, 2023

Promyelinating drugs promote functional recovery in an autism spectrum disorder mouse model of Pitt-Hopkins syndrome
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Bohlen, et al. Brain, April 18, 2023

Consensus molecular environment of schizophrenia risk genes in coexpression networks shifting across age and brain regions
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Pergola, et al. Science Advances, April 14, 2023

Distinct roles of Bdnf I and Bdnf IV transcript variant expression in hippocampal neurons
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Bach, et al. bioRxiv (preprint), April 5, 2023

Anterior Insula-Associated Social Novelty Recognition: Pivotal Roles of a Local Retinoic Acid Cascade and Oxytocin Signaling
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Kim, et al. American Journal of Psychiatry, April 1, 2023

Genetic and environmental contributions to ancestry differences in gene expression in the human brain
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Benjamin, et al. bioRxiv (preprint), March 30, 2023

The Importance of PK-PD
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Barrow, et al. Journal of Medicinal Chemistry, March 29, 2023

Mapping the Complex Genetic Landscape of Human Neurons
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Sun, et al. bioRxiv (preprint), March 7, 2023

Performant web-based interactive visualization tool for spatially-resolved transcriptomics experiments
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Sriworarat, et al. bioRxiv (preprint), February 23, 2023

Integrated single-cell and unsupervised spatial transcriptomic analysis defines molecular anatomy of the human dorsolateral prefrontal cortex
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Huuki-Myers, et al. bioRxiv (preprint), February 15, 2023

A multimodal deep learning model to infer cell-type-specific functional gene networks
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Afshar, et al. BMC Bioinformatics, February 14, 2023

SUFI: an automated approach to spectral unmixing of fluorescent multiplex images captured in mouse and post-mortem human brain tissues
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Sadashivaiah, et al. BMC Neuroscience, January 25, 2023

TCF4 mutations disrupt synaptic function through dysregulation of RIMBP2 in patient-derived cortical neurons
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Davis, et al. bioRxiv (preprint), January 20, 2023

A Missense Variant in CASKIN1’s Proline-Rich Region Segregates with Psychosis in a Three- Generation Family
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Wahbeh, et al. Genes (Basel), January 9, 2023

2022 Publications

Deep learning predicts DNA methylation regulatory variants in the human brain and elucidates the genetics of psychiatric disorders
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Zhou, et al. PNAS

Amygdala and anterior cingulate transcriptomes from individuals with bipolar disorder reveal downregulated neuroimmune and synaptic pathways
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Zandi, et al. Nature Neuroscience

Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability
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Bae, et al. Science

Genetics and Brain Transcriptomics of Completed Suicide
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Punzi, et al. The American Journal of Psychiatry

Molecular landscapes of human hippocampal immature neurons across lifespan
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Zhou, et al. Nature

Electrophysiological measures from human iPSC-derived neurons are associated with schizophrenia clinical status and predict individual cognitive performance
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Page, et al. PNAS

2021 Publications

Air pollution interacts with genetic risk to influence cortical networks implicated in depression
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Li et al, PNAS.

SINGLE-NUCLEUS TRANSCRIPTOME ANALYSIS REVEALS CELL TYPE-SPECIFIC MOLECULAR SIGNATURES ACROSS REWARD CIRCUITRY IN THE HUMAN BRAIN
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Tran et al, Neuron.

TRANSCRIPTOME-SCALE SPATIAL GENE EXPRESSION IN THE HUMAN DORSOLATERAL PREFRONTAL CORTEX
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Maynard, et al. Nature Neuroscience (2021). Published online 18 February 2021.

Placental genomic risk scores and early neurodevelopmental outcomes
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Ursini, et al. PNAS

2020 Publications

A MYELIN-RELATED TRANSCRIPTOMIC PROFILE IS SHARED BY PITT-HOPKINS SYNDROME MODELS AND HUMAN AUTISM SPECTRUM DISORDER
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Phan BN, Bohlen JF, Davis BA, Ye Z, Chen H-Y, Mayfield B, Sripathy SR, Page SC, Campbell MN, Smith HL, Gallop D, Kim H, Thaxton CL, Simon JM, Burke EE, Shin JH, Kennedy AJ, Sweatt JD, Philpot BD, Jaffe AE, & Maher BJ. Nature Neuroscience (2020). Published online 03 February 2020.

PROFILING GENE EXPRESSION IN THE HUMAN DENTATE GYRUS GRANULE CELL LAYER REVEALS INSIGHTS INTO SCHIZOPHRENIA AND ITS GENETIC RISK
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Jaffe, et. al. Nature Neuroscience (2020). Published online 16 March 2020.

2019 Publications

DIVERGENT NEURONAL DNA METHYLATION PATTERNS ACROSS HUMAN CORTICAL DEVELOPMENT REVEAL CRITICAL PERIODS AND A UNIQUE ROLE OF CpH METHYLATION
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Price AJ, Collado-Torres L, Ivanov NA, et. al. Genome Biology, (2019). Published online 26 September 19.

REGIONAL HETEROGENEITY IN GENE EXPRESSION, REGULATION, AND COHERENCE IN THE FRONTAL CORTEX AND HIPPOCAMPUS ACROSS DEVELOPMENT AND SCHIZOPHRENIA
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Collado-Torres L, Burke EE, Peterson A, Shin JH, Straub RE, Rajpurohit A, Semick SA, Ulrich WS, BrainSeq Consortium, Price AJ, Valencia C, Tao R, Deep-Soboslay A, Hyde TM, Kleinman JE, Weinberger DR, & Jaffe AE. Neuron, (2019). Published online 17 July 19.

INTERSECTION OF DIVERSE NEURONAL GENOMES AND NEUROPSYCHIATRIC DISEASE: THE BRAIN SOMATIC MOSAICISM NETWORK
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McConnell MJ, et. al. Science, (2019). Published online 28 April 19.

GENETIC REGULATION OF EXPRESSION IN THE GRANULE CELL LAYER OF THE HUMAN DENTATE GYRUS
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Jaffe AE, Hoeppner DJ, Saito T, Blanpain L, Joy Ukaigwe J, Burke EE, Collado-Torres C, Tao R, Tajinda K, Maynard KR, Tran MN, Martinowich K, Deep-Soboslay A, Shin JH, Kleinman JE, Weinberger DR, Matsumoto M, & Hyde TM. Nature Neuroscience (2019). Published online 17 April 19.

DISSECTING TRANSCRIPTOMIC SIGNATURES OF NEURONAL DIFFERENTIATION AND MATURATION USING iPSCS
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Burke EE, Chenoweth JG, Shin JH, Collado-Torres L, Kim SK, Micali N, Wang Y, Colantuoni C, Straub RE, Hoeppner DJ, Chen H-Y, Lescure A, Shibbani K, Hamersky GR, Phan BN, Ulrich WS, Valencia C, Jaishankar A, Price AJ, Rajpurohit A, Semick SA, Bürli R, Barrow JC, Hiler DJ, Page SC, Martinowich K, Hyde TM, Kleinman JE, Berman KF, Apud JA, Cross AJ, Brandon NJ, Weinberger DR, Maher BJ, McKay RDG, & Jaffe AE. Nature Communications, (2019). Published online 23 January 20.

NEURONS WITH COMPLEX KARYOTYPES ARE RARE IN AGED HUMAN NEOCORTEX
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Chronister WE, Burbulis IE, Wierman MB, Wolpert MJ, Haakenson MF, Smith ACB, Kleinman JE, Hyde TM, Weinberger DR, Bekiranov S, McConnell MJ. Cell Reports, (2019). Published online 22 January 19.

THINKING ABOUT SCHIZOPHRENIA IN AN ERA OF GENOMIC MEDICINE
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Weinberger, DR. The American Journal of Psychiatry, (2019). Published online 1 January 19.

 

2018 Publications

DEVELOPMENTAL EFFECTS OF MATERNAL SMOKING DURING PREGNANCY ON THE HUMAN FRONTAL CORTEX TRANSCRIPTOME
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Semick SA, Collado-Torres L, Markunas CA, Shin JH, Deep-Soboslay A, Tao R, Huestis MA, Bierut LJ, Maher BS, Johnson EO, Hyde TM, Weinberger DR, Hancock DB, Kleinman JE, & Jaffe AE. Molecular Psychiatry (2018). Published online 21 August 2018.

DEVELOPMENTAL AND GENETIC REGULATION OF THE HUMAN CORTEX TRANSCRIPTOME ILLUMINATE SCHIZOPHRENIA PATHOGENESIS
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Jaffe AE, Straub RE, Shin JH, Tao R, Gao Y, Collado-Torres L, Kam-Thong T, Xi HS, Quan J, Chen Q, Colantuoni C, Ulrich WS, Maher BJ, Deep-Soboslay A, The BrainSeq Consortium, Cross AJ, Brandon NJ, Leek JT, Hyde TM, Kleinman JE and Weinberger, DR. Nature Neuroscience (2018). Published 26 July 2018.

CONVERGENCE OF PLACENTA BIOLOGY AND GENETIC RISK FOR SCHIZOPHRENIA
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Ursini G, Punzi G, Chen Q, Marenco S, Robinson JF, Porcelli A, Hamilton EG, Mitjans M, Maddalena G, Begemann M, Seidel J, Yanamori H, Jaffe AE, Berman KF, Egan MF, Straub RE, Colantuoni C, Blasi G, Hashimoto R, Rujescu D, Ehrenreich H, Bertolino A, and Weinberger DR. Nature Medicine (2018). Published online 28 May 2018.

ELECTROCONVULSIVE SEIZURES INFLUENCE DENDRITIC SPINE MORPHOLOGY AND BDNF EXPRESSION IN A NEUROENDOCRINE MODEL OF DEPRESSION
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Maynard KR, Hobbs JW, Rajpurohit SK, Martinowich K. Brain Stimul. 2018 Jul – Aug;11(4):856-859.

INTERACTION OF CHILDHOOD URBANICITY AND VARIATION IN DOPAMINE GENES ALTERS ADULT PREFRONTAL FUNCTION AS MEASURED BY FUNCTIONAL MAGNETIC RESONANCE IMAGING (fMRI)
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Reed JL, D’Ambrosio E, Marenco S, Ursini G, Zheutlin AB, Blasi G, Spencer BE, Romano R, Hochheiser J, Reifman A, Sturm J, Berman KF, Bertolino A, Weinberger DR, Callicott JH. PLOS One. Published 10 April 2018.

2017 Publications

DEVELOPMENT OF A HOMOGENOUS HIGH-THROUGHPUT ASSAY FOR INOSITOL HEXAKISPHOSPHATE KINASE 1 ACTIVITY
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Wormald M, Liao G, Kimos M, Barrow J, Wei H. PlosOne (2017). Published online 29 November 2017.

GENETIC INSIGHTS INTO THE NEURODEVELOPMENTAL ORIGINS OF SCHIZOPHRENIA
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Birnbaum R and Weinberger DR. Nature Reviews Neuroscience (2017). Published online 26 October 2017.

THE DOPAMINE D5 RECEPTOR IS INVOLVED IN WORKING MEMORY
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Carr GV, Maltese F, Sibley DR, Weinberger DR, and Papaleo F. Frontiers in Pharmacology (2017). Published online 06 October 2017.

LATE ONSET ALZHEIMER’S DISEASE POLYGENIC RISK PROFILE SCORE PREDICTS HIPPOCAMPAL FUNCTION
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Xiao E, Chen Q, Goldman A, Tan HY, Healy K, Zoltick B, Das S, Kolachana B, Callicott JH, Dickinson D, Berman KF, Weinberger DR, and Mattay VS. Biological Psychiatry (2017). Published online 24 August 2017.

qSVA FRAMEWORK FOR RNA QUALITY CORRECTION IN DIFFERENTIAL EXPRESSION ANALYSIS
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Jaffe AE, Tao R, Norris AL, Kealhofer M, Nellore A, Shin JH, Kim D, Jia Y, Hyde TM, Kleinman JE, Straub RE, Leek JT and Weinberger DR.PNAS (2017). Published 3 July 2017.

IMPLEMENTATION AND CLINICAL CHARACTERISTICS OF A POSTTRAUMATIC STRESS DISORDER BRAIN COLLECTION
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Mighdoll M, Deep-Soboslay, A, Bharadwaj, RA, Cotoia, JA, Benedek, DM, Hyde, TM, and Kleinman JE.
Journal of Neuroscience Research
 (2017). Published online 13 June 2017.

ALTERED EXPRESSION OF HISTAMINE SIGNALING GENES IN AUTISM SPECTRUM DISORDER
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Wright C, Shin JH, Rajpurohit A, Deep-Soboslay, A, Collado-Torres L, Brandon NJ, Hyde, TM, Kleinman JE, Jaffe AE, Cross AJ,and Weinberger DR. Translational Psychiatry (2017) 7. Published online 9 May 2017.

INVESTIGATING THE NEUROIMMUNOGENIC ARCHITECTURE OF SCHIZOPHRENIA
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Birnbaum R, Jaffe AE, Chen Q, Shin JH, BrainSeq Consortium*, Kleinman JE, Hyde TM, and Weinberger DR. Molecular Psychiatry advance online publication: 9 May 2017.

BDNF MRNA SPLICE VARIANTS DIFFERENTIALLY IMPACT CA1 AND CA3 DENDRITE COMPLEXITY AND SPINE MORPHOLOGY IN THE HIPPOCAMPUS
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Maynard KR, Hobbs JW, Sukumar M, Kardian AS, Jimenez DV, Schloesser RJ, and Martinowich K. Brain Struct Funct. 2017 Mar 21.

THE SCHIZOPHRENIA AND AUTISM ASSOCIATED GENE, TRANSCRIPTION FACTOR 4 (TCF4) REGULATES THE COLUMNAR DISTRIBUTION OF LAYER 2/3 PREFRONTAL PYRAMIDAL NEURONS IN AN ACTIVITY-DEPENDENT MANNER.
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Page SC, Hamersky GR, Gallo RA, Rannals MD, Calcaterra NE, Campbell MN, Mayfield B, Briley A, Phan BN, Jaffe AE, Maher BJ. Molecular Psychiatry 2017.

DEFICITS IN THE ACTIVITY OF PRESYNAPTIC Γ-AMINOBUTYRIC ACID TYPE B RECEPTORS CONTRIBUTE TO ALTERED NEURONAL EXCITABILITY IN FRAGILE X SYNDROME
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Kang JY, Chadchankar J, Vien TN, Mighdoll MI, Hyde TM, Mather RJ, Deeb TZ, Pangalos MN, Brandon NJ, Dunlop J and Moss SJ.

MOLECULAR MECHANISMS OF TRANSCRIPTION FACTOR 4 IN PITT-HOPKINS SYNDROME
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Rannals, M.D. & Maher, B.J. Curr Genet Med Rep (2017) 5: 1.

2016 Publications

EFFECTS OF OXYTOCIN AND VASOPRESSIN ON PREFERENTIAL BRAIN RESPONSES TO NEGATIVE SOCIAL FEEDBACK
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Gozzi M, Dashow EM, Thurm A, Swedo SE, Zink CF. Neuropsychopharmacology, 2016 Nov 30.

GENETIC RISK MECHANISMS OF POSTTRAUMATICSTRESS DISORDER IN THE HUMAN BRAIN
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Bharadwaj, R. A., Jaffe, A. E., Chen, Q., Deep-Soboslay, A., Goldman, A. L., Mighdoll, M. I., Cotoia, J. A., Brandtjen, A. C., Shin, J., Hyde, T. M., Mattay, V. S., Weinberger, D. R. and Kleinman, J. E. (2016), Journal of Neuroscience Research. doi:10.1002/jnr.23957

USING INDUCED PLURIPOTENT STEM CELLS TO INVESTIGATE COMPLEX GENETIC PSYCHIATRIC DISORDERS
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Temme, S.J., Maher, B.J. & Christian, K.M. Curr Behav Neurosci Rep (2016) 3: 275. doi:10.1007/s40473-016-0100-7.

ILLUMINATING THE DARK ROAD FROM SCHIZOPHRENIA GENETIC ASSOCIATIONS TO DISEASE MECHANISMS.
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Li M, Weinberger DR. National Science Review, 12 October 2016.

BRAIN CATECHOL-O-METHYLTRANSFERASE (COMT) INHIBITION BY TOLCAPONE COUNTERACTS RECOGNITION MEMORY DEFICITS IN NORMAL AND CHRONIC PHENCYCLIDINE-TREATED RATS AND IN COMT-VAL TRANSGENIC MICE
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Detrait ER, Carr GV, Weinberger DR, Lamberty Y. Behavioral Pharmacology, 2016.

RAIL-RNA: SCALABLE ANALYSIS OF RNA-SEQ SPLICING AND COVERAGE BIOINFORMATICS
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Nellore A, Collado-Torres L, Jaffe AE, Morton J, Alquicira-Hernández J, Leek JT, Langmead B. Bioinformatics. 2016 Sep 4. pii: btw575. [Epub ahead of print] DOI PMID.

LOSS OF PROMOTER IV-DRIVEN BDNF EXPRESSION IMPACTS OSCILLATORY ACTIVITY DURING SLEEP, SENSORY INFORMATION PROCESSING AND FEAR REGULATION
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Hill JL, Hardy NF, Jimenez DV, Maynard KR, Kardian AS, Pollock CJ, Schloesser, Martinowich K. Translational Psychiatry, 6(8):e873, 2016.

CRUCIAL ROLES OF ARP2/3 COMPLEX DURING MAMMALIAN CORTICOGENESIS
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Wang P, Chou F, Ramachandran S, Xia S, Chen H, Guo F, Suraneni P, Maher B, Li R. Development, 143(15), 2741-52, 2016.

FUNCTIONAL ROLE OF BDNF PRODUCTION FROM UNIQUE PROMOTERS IN AGGRESSION AND SEROTONIN SIGNALING
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Maynard KR, Hill JL, Calcaterra NE, Palko ME, Kardian A, Paredes D, Sukumar M, Adler BD, Jimenez DV, Schloesser RJ, Tessarollo L. Neuropsychopharmacology, 41(8), 1943-55, 2016.

DYNAMIC REGULATION OF RNA EDITING IN HUMAN BRAIN DEVELOPMENT AND DISEASE
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Taeyoung Hwang, Chul-Kee Park, Anthony K L Leung, Yuan Gao, Thomas M Hyde, Joel E Kleinman, Anandita Rajpurohit, Ran Tao, Joo Heon Shin & Daniel R Weinberger. Nature Neuroscience, 26 June 16.

SYNTHESIS AND OPTIMIZATION OF N-HETEROCYCLIC PYRIDINONES AS CATECHOL-O-METHYLTRANSFERASE (COMT) INHIBITORS
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Zhao Z, Harrison ST, Schubert JW, Sanders JM, Polsky-Fisher S, Zhang NR, McLoughlin D, Gibson CR, Robinson RG, Sachs NA, Kandebo M, Yao L, Smith SM, Hutson PH, Wolkenberg SE, Barrow JC. Bioorg Med Chem Lett. 26, 2952-6, 2016.

DEVELOPMENT OF AN HTRF ASSAY FOR THE DETECTION AND CHARACTERIZATION OF INHIBITORS OF CATECHOL-O-METHYLTRANSFERASE
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Kimos M, Burton M, Urbain D, Caudron D, Martini M, Famelart M, Gillard M, Barrow J, Wood M. Journal of Biomolecular Screening, 21, 480-495, 2016.

ASSESSMENT OF GENETIC RISK FOR DISTRIBUTION OF TOTAL INTERSTITIAL WHITE MATTER NEURONS IN DORSOLATERAL PREFRONTAL CORTEX: ROLE IN SCHIZOPHRENIA
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McFadden WC, Jaffe AE, Ye T, Paltán-Ortiz JD, Hyde TM, Kleinman JE. Schizophrenia Research. May 27, 2016.

REGIONAL VARIATIONS IN BRAIN GYRIFICATION ARE ASSOCIATED WITH GENERAL COGNITIVE ABILITY IN HUMANS
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Gregory MD, Kippenhan JS, Dickinson D, Carrasco J, Mattay VS, Weinberger DR, Berman KF. Current Biology. May 23;26(10):1301-5, 2016.

ESTIMATING CHANGING CONTEXTS IN SCHIZOPHRENIA
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Kaplan CM, Saha DS, Molina JL, Hockeimer WD, Postell EM, Apud JA, Weinberger DR, Tan HY. Brain, p.aww095, 2016.

BRAIN-REGION-SPECIFIC ORGANOIDS USING MINI-BIOREACTORS FOR MODELING ZIKV EXPOSURE
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Qian X, et al. Cell, 165(5), pp.1238-1254, 2016.

A HUMAN-SPECIFIC AS3MT ISOFORM AND BORCS7 ARE MOLECULAR RISK FACTORS IN THE 10Q24.32 SCHIZOPHRENIA LOCUS
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Ming Li, Andrew E Jaffe, Richard E Straub, Ran Tao, Joo Heon Shin, Yanhong Wang, Qiang Chen, Chao Li, Yankai Jia, Kazutaka Ohi, Brady J Maher, Nicholas J Brandon, Alan Cross, Joshua G Chenoweth, Daniel J Hoeppner, Huijun Wei, Thomas M Hyde, Ronald McKay, Joel E Kleinman & Daniel R Weinberger. Nature Medicine, 09 May 16.

ASSOCIATION OF DNA METHYLATION DIFFERENCES WITH SCHIZOPHRENIA IN AN EPIGENOME-WIDE ASSOCIATION STUDY
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Montano C, et al. JAMA Psychiatry. May 1;73(5):506-14, 2016.

BEHAVIORAL, NEUROPHYSIOLOGICAL, AND SYNAPTIC IMPAIRMENT IN A TRANSGENIC NEUREGULIN1 (NRG1-IV) MURINE SCHIZOPHRENIA MODEL
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Papaleo F, Yang F, Paterson C, Palumbo S, Carr GV, Wang Y, Floyd K, Huang W, Thomas CJ, Chen, Weinberger DR, Law AJ.  The Journal of Neuroscience, 36(17), pp.4859-4875, 2016.

METABOTROPIC GLUTAMATE RECEPTOR 3 (MGLU3; MGLUR3; GRM3) IN SCHIZOPHRENIA: ANTIBODY CHARACTERISATION AND A SEMI-QUANTITATIVE WESTERN BLOT STUDY
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García-Bea A, Walker MA, Hyde TM, Kleinman JE, Harrison PJ, Lane TA. Schizophrenia Research. Apr 27, 2016.

NEUROPROTECTIVE EFFECTS OF DOCOSAHEXAENOIC ACID ON HIPPOCAMPAL CELL DEATH AND LEARNING AND MEMORY IMPAIRMENTS IN A VALPROIC ACID-INDUCED RAT AUTISM MODEL
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Gao J, Wang X, Sun H, Cao Y, Liang S, Wang H, Wang Y, Yang F, Zhang F, Wu L.  International Journal of Developmental Neuroscience. Apr; 49:67-78, 2016.

INOSITOL HEXAKISPHOSPHATE (IP6) GENERATED BY IP5K MEDIATES CULLIN-COP9 SIGNALOSOME INTERACTIONS AND CRL FUNCTION
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Scherer PC, Ding Y, Liu Z, Xu J, Mao H, Barrow JC, Wei N, Zheng N, Snyder SH, Rao F. Proc Natl Acad Sci. 113, 3503-8, 2016.

SEEKING OPTIMAL REGION-OF-INTEREST (ROI) SINGLE-VALUE SUMMARY MEASURES FOR FMRI STUDIES IN IMAGING GENETICS
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Tong Y, Chen Q, Nichols TE, Rasetti R, Callicott JH, Berman KF, Weinberger DF, Mattay VS.  PloS one, 11(3), e0151391, 2016.

PSYCHIATRIC RISK GENE TRANSCRIPTION FACTOR 4 REGULATES INTRINSIC EXCITABILITY OF PREFRONTAL NEURONS VIA REPRESSION OF SCN10A AND KCNQ1
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Matthew D. Rannals, Gregory R. Hamersky, Stephanie Cerceo Page, Morganne N. Campbell, Aaron Briley, Ryan A. Gallo, BaDoi N. Phan, Thomas M. Hyde, Joel E. Kleinman, Joo Heon Shin, Andrew E. Jaffe, Daniel R. Weinberger, Brady J. Maher. Neuron, 10 Mar 16.

STRONG COMPONENTS OF EPIGENETIC MEMORY IN CULTURED HUMAN FIBROBLASTS RELATED TO SITE OF ORIGIN AND DONOR AGE
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Ivanov NA, Tao R, Chenoweth JG, Brandtjen A, Mighdoll MI, Genova JD, Jaffe AE et al. (2016) Strong Components of Epigenetic Memory in Cultured Human Fibroblasts Related to Site of Origin and Donor Age.  12(2): e1005819.

BDNF RS6265 METHYLATION AND GENOTYPE INTERACT ON RISK FOR SCHIZOPHRENIA
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Ursini G, Cavalleri T, Fazio L, Angrisano T, Iacovelli L, Porcelli A, Maddalena G, Punzi G, Mancini M, Gelao B, Romano R. Epigenetics, 11(1), pp.11-23, 2016.

SCHIZOPHRENIA-ASSOCIATED HERG CHANNEL KV11.1-3.1 EXHIBITS A UNIQUE TRAFFICKING DEFICIT THAT IS RESCUED THROUGH PROTEASOME INHIBITION FOR HIGH THROUGHPUT SCREENING
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Calcaterra NE, Hoeppner DJ, Wei H, Jaffe AE, Maher BJ, Barrow JC. Scientific Reports, vol 6, 19976., 10.1038/srep19976, 2016.

KCNH2-3.1 EXPRESSION IMPAIRS COGNITION AND ALTERS NEURONAL FUNCTION IN A MODEL OF MOLECULAR PATHOLOGY ASSOCIATED WITH SCHIZOPHRENIA
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Carr GV, Chen J, Yang F, Ren M, Yuan P, Tian Q, Bebensee A, Zhang GY, Du J, Glineburg P, Xun R, Akhile O, Akuma D, Pickel J, Barrow JC, Papaleo F, Weinberger DR. Molecular Psychiatry, 2016.

GAD2 ALTERNATIVE TRANSCRIPTS IN THE HUMAN PREFRONTAL CORTEX, AND IN SCHIZOPHRENIA AND AFFECTIVE DISORDERS
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Davis KN, Tao R, Li C, Gao Y, Gondré-Lewis MC, Lipska BK, Hyde TM.  PLoS ONE, 11(2), e0148558, 2016.

GENETIC INFLUENCES ON SCHIZOPHRENIA AND SUBCORTICAL BRAIN VOLUMES: LARGE-SCALE PROOF OF CONCEPT
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Franke B, et al. Schizophrenia Working Group of the Psychiatric Genomics Consortium; Psychosis Endophenotypes International Consortium; Wellcome Trust Case Control Consortium 2; Enigma Consortium, O’Donovan MC, Thompson PM, Neale BM, Medland SE, Sullivan PF. Nature Neuroscience. February 1, 2016.

OXYTOCIN AND SOCIAL ADAPTATION: INSIGHTS FROM NEUROIMAGING STUDIES OF HEALTHY AND CLINICAL POPULATIONS
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Ma Y, Shamay-Tsoory S, Han S, Zink CF. Trends in Cognitive Sciences, 20 (2):133-145, 2016.

IMPACT OF A CIS-ASSOCIATED GENE EXPRESSION SNP IN 20Q11.22 ON BIPOLAR DISORDER SUSCEPTIBILITY, HIPPOCAMPAL STRUCTURE AND COGNITIVE PERFORMANCE
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Li M, Luo X, Landen M, Bergen SE, Hultman CM, Li X, Zhang W, Yao Y, Zhang C, Liu J, Mattheisen M, Cichon S, Muhlesien TW, Degenhardt FA, Nothen MM, Schulze TG, Grigoroiu-Serbanescu M, Li H, Fuller CK, Chen C, Dong Q, Chen C, Jamain S, Leboyer M, Bellivier F, Etain B, Kahn J-P, Henry C, Preisig M, Kutalik Z, Castelao E, Wright A, Mitchell PB, Fullerton JM, Schofield PR, Montgomery GW, Medland SE, Gordon SD, Martin NG, MooDS Consortium, The Swedish Bipolar Study Group, Rietschel M, Liu C, Kleinman JE, Hyde TM, Weinberger DR and Su B. British Journal of Psychiatry 208 128-137, 2016.

ACTIVITY-DEPENDENT SIGNALING: INFLUENCE ON PLASTICITY IN CIRCUITS CONTROLLING FEAR-RELATED BEHAVIOR
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Hill JL, Martinowich K. Current Opinion in Neurobiology. 36, pp. 59–65, 2016.

DIFFERENTIAL RESPONSE TO RISPERIDONE IN SCHIZOPHRENIA PATIENTS BY KCNH2GENOTYPE AND DRUG METABOLIZER STATUS
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Heide J, Zhang F, Bigos KL, Mann SA, Carr VJ, Weickert CS, Weinberger DR, Vandenberg JI. American Journal of Psychiatry, 173(1), 53-59. 10.1176/appi.ajp.2015.14050653, 2016.

MAPPING DNA METHYLATION ACROSS DEVELOPMENT, GENOTYPE AND SCHIZOPHRENIA IN THE HUMAN FRONTAL CORTEX
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Jaffe AE, Gao Y, Soboslay AD, Tao R, Hyde TM, Weinberger DR & Kleinman JE.  Nature Neuroscience.

https://www.libd.org/research-activities/our-news/2015/major-new-study-rewrites-the-nature-v-nurture-debate-about-schizophrenia

2015 Publications

BRAINSEQ: NEUROGENOMICS TO DRIVE NOVEL TARGET DISCOVERY FOR NEUROPSYCHIATRIC DISORDERS.
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Schubert CR, O’Donnell P, Quan J, Wendland JR, Xi HS, Winslow AR, Domenici E, Essioux L, Kam-Thong T, Airey DC, Calley JN, Collier DA, Wang H, Eastwood B, Ebert P, Liu Y, Nisenbaum L, Ruble C, Scherschel JE, Smith RM, Qian HR, Merchant K, Didriksen M, Matsumoto M, Saito T, Brandon NJ, Cross AJ, Wang Q, Manji H, Kolb H, Furey M, Drevets WC, Shin JH, Jaffe AE, Jia Y, Straub RE, Deep-Soboslay A, Hyde TM, Kleinman JE, Weinberger DR. Neuron. 2015 Dec 16;88(6):1078-83

WHITHER RESEARCH DOMAIN CRITERIA (RDOC)? THE GOOD, THE BAD, AND THE UGLY
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Weinberger DR, Glick ID, Klein DF. JAMA Psychiatry, 2015; 72(12):1161-1162.

DEVELOPMENT OF AN HTRF ASSAY FOR THE DETECTION AND CHARACTERIZATION OF INHIBITORS OF CATECHOL-O-METHYLTRANSFERASE
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Kimos M, Burton M, Urbain D, Caudron D, Martini M, Famelart M, Gillard M, Barrow J, Wood M. Journal of Biomolecular Screening. 2016 Jun;21(5):490-5.

PRACTICAL IMPACTS OF GENOMIC DATA “CLEANING” ON BIOLOGICAL DISCOVERY USING SURROGATE VARIABLE ANALYSIS
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Jaffe AE, Hyde TM, Kleinman JE, Weinberger DR, Chenoweth JG, McKay RD, Leek JT, Colantuoni C. BMC Bioinformatics 2015, 16:372.

REPROGRAMMING, BEHIND THE SCENES: NON-CANONICAL NEURAL STEM CELL SIGNALING PATHWAYS REVEAL NEW, UNSEEN REGULATORS OF TISSUE PLASTICITY WITH THERAPEUTIC IMPLICATIONS
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Poser SW, Chenoweth JG, Colantuoni C, Masjkur J, Chrousos G, Bornstein SR, McKay RD, Androutsellis-Theotokis A. Stem Cells Translational Medicine. 2015 Nov;4(11):1251-7.

MOLECULAR MECHANISMS AND TIMING OF CORTICAL IMMUNE ACTIVATION IN SCHIZOPHRENIA
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Hyde TM, Bharadwaj, RA. American Journal of Psychiatry.

HUMAN OBESITY ASSOCIATED WITH AN INTRONIC SNP IN THE BRAIN-DERIVED NEUROTROPHIC FACTOR LOCUS
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Mou et al., Human Obesity Associated with an Intronic SNP in the Brain-Derived Neurotrophic Factor Locus, Cell Reports (2015), http://dx.doi.org/10.1016/j.celrep.2015.09.065

DIFFERENTIAL RESPONSE TO RISPERIDONE IN SCHIZOPHRENIA PATIENTS BY KCNH2 GENOTYPE AND DRUG METABOLIZER STATUS
Read Online
Heide J, Zhang F, Bigos KL, Mann SA, Carr VJ, Shannon Weickert C, Green MJ, Weinberger DR, Vandenberg JI.  American Journal of Psychiatry.

ACTIVITY-DEPENDENT SIGNALING: INFLUENCE ON PLASTICITY IN CIRCUITS CONTROLLING FEAR-RELATED BEHAVIOR
Read Online
Hill JL, Martinowich K. Current Opinion in Neurobiology.

FINDING THE ELUSIVE PSYCHIATRIC “LESION” WITH 21ST-CENTIRY NEUROANATOMY: A NOTE OF CAUTION
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Weinberger DR, Radulescu E. American Journal of Psychiatry. 2016 Jan;173(1):27-33.

DOPAMINE TRANSPORTER 3′ UTR VNTR MODULATES STRIATAL FUNCTION DURING WORKING MEMORY UPDATING ACROSS THE ADULT AGE SPAN
Read Online
Sambataro F, Podell JE, Murty VP, Das S, Kolachana B, Goldberg TE, Weinberger DR, Mattay VS. European Journal of Neuroscience, 2015 Aug;42(3):1912-8.

SCHIZOPHRENIA PATIENTS WITH KCNH2 RISK GENOTYPES AND SLOW DRUG METABOLIZER STATUS SHOW A MARKED SYMPTOMATIC IMPROVEMENT WHEN TREATED WITH RISPERIDONE
J Heide, F Zhang, KL Bigos, SA Mann, VJ Carr, CS Weickert, MJ Green, DR Weinberger, JI Vandenberg. American Journal of Psychiatry, Jul 2015.

GLUTAMATE NETWORKS IMPLICATE COGNITIVE IMPAIRMENTS IN SCHIZOPHRENIA: GENOME-WIDE ASSOCIATION STUDIES OF 52 COGNITIVE PHENOTYPES
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Ohi K, Hashimoto R, Ikeda M, Yamamori H, Yasuda Y, Fujimoto M, Umeda-Yano S, Fukunaga M, Fujino H, Watanabe Y, Iwase M, Kazui H, Iwata N, Weinberger DR. Takeda M. Schizophrenia Bulletin,2015 Jul;41(4):909-18

ANTIDEPRESSANT-LIKE EFFECTS OF ELECTROCONVULSIVE SEIZURES REQUIRE ADULT NEUROGENESIS IN A NEUROENDOCRINE MODEL OF DEPRESSION
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RJ Schloesser, S Orvoen, DV Jimenez, NF Hardy, KR Maynard, M Sukumar, HK Manji, AM Gardier, DJ David, K Martinowich. Brain Stimulation, June 2015.

INVESTIGATION OF THE PRENATAL EXPRESSION PATTERNS OF 108 SCHIZOPHRENIA- ASSOCIATED GENETIC LOCII
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Birnbaum R, Jaffe AE, Chen Q, Hyde TM, Kleinman JE, Weinberger DR. Biological Psychiatry. 171:758-767, 2014.

REGIONREPORT: INTERACTIVE REPORTS FOR REGION-BASED ANALYSES
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Collado-Torres L, Jaffe AE, Leek JT. F1000Research 4:105, 2015.

POLYESTER: SIMULATING RNA-SEQ DATASETS WITH DIFFERENTIAL TRANSCRIPT EXPRESSION
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Frazee AC, Jaffe AE, Langmead B, Leek JT. Bioinformatics, 2015.

DEGS2 POLYMORPHISM ASSOCIATED WITH COGNITION IN SCHIZOPHRENIA IS ASSOCIATED WITH GENE EXPRESSION IN BRAIN
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Ohi K, Ursini G, Li M, Shin JH, Ye T, Chen Q, Tao R, Kleinman JE, Hyde TM, Hashimoto R, Weinberger DR. Translational Psychiatry, Apr 14;5:e550, 2015.

7Q11.23 DOSAGE-DEPENDENT DYSREGULATION IN HUMAN PLURIPOTENT STEM CELLS AFFECTS TRANSCRIPTIONAL PROGRAMS IN DISEASE-RELEVANT LINEAGES
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Adamo A, Atashpaz S, Germain P, Zanella M, D’Agostino G, Albertin V,  Chenoweth J, Micale L, Fusco C, Unger C, Augello B, Palumbo O, Hamilton B, Carella M, Donti E, Pruneri G, Selicorni A, Biamino E, Prontera P, McKay R, Merla G, Testa G. Nature Genetics, 47, 132-41, 2015.

DEVELOPMENTAL REGULATION OF HUMAN CORTEX TRANSCRIPTION AND ITS CLINICAL RELEVANCE AT BASE RESOLUTION
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Jaffe AE+, Shin J, Collado-Torres L, Leek JT, Tao R, Li C, Gao Y, Jia Y, Maher BJ, Hyde TM, Kleinman JE, Weinberger DR+. Nature Neuroscience, 18:154–161, 2015. +corresponding author

2014 Publications

INCREASED EXPRESSION OF MARCKS IN POST-MORTEM BRAIN OF VIOLENT SUICIDE COMPLETERS IS RELATED TO TRANSCRIPTION OF A LONG, NONCODING, ANTISENSE RNA
Read online.
Punzi G, Ursini G, Shin JH, Kleinman JE, Hyde TM, Weinberger DR. Letter to the editor. Molecular Psychiatry, 19:1052-1059, 2014.

ZNF804A EXPRESSION IN HUMAN BRAIN: A NOVEL TRANSCRIPT FETALLY REGULATED BY THE PSYCHOSIS RISK SNP RS1344706, AND ALTERATIONS IN SCHIZOPHRENIA, BIPOLAR DISORDER AND MAJOR DEPRESSION
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Tao R, Cousijn H, Jaffe AE, Burnet PW, Edwards F, Eastwood SL, Shin JH, Lane TA, Walker MA, Maher B, Weinberger DR, Harrison PJ, Hyde TM, Kleinman JE. JAMA Psychiatry. 71:1112-1120, 2014.

BIOLOGICAL INSIGHTS FROM 108 SCHIZOPHRENIA-ASSOCIATED GENETIC LOCI
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Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 511:421–427, 2014.

PRENATAL EXPRESSION PATTERNS OF GENES ASSOCIATED WITH NEUROPSYCHIATRIC DISORDERS
Read Online
Birnbaum R, Jaffe AE, Hyde TM, Kleinman JE, Weinberger DR. Am J Psychiatry, 2014.

CATEGORY FLUENCY, LATENT SEMANTIC ANALYSIS AND SCHIZOPHRENIA: A CANDIDATE GENE APPROACH
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Nicodemus KK, Elevag B, Foltz PW, Rosenstein M, Diaz-Asper C, Weinberger DR. Cortex, June 182-191, 2014.

DIFFERENTIAL EFFECTS OF COMMON VARIANTS IN SCN2A ON GENERAL COGNITIVE ABILITY, BRAIN PHYSIOLOGY, AND MESSENGER RNA EXPRESSION IN SCHIZOPHRENIA CASES AND CONTROL INDIVIDUALS
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Dickinson D, Straub RE, Trampush J, Gao Y, Feng N Xie B, Shin JH, Lim HK, Callicott JH, Bigos KL, Kolachana B, Hashimoto R, Takeda M, Rujescu D, Hyde TM, Berman KF, Kleinman JE, Weinberger DR. JAMA Psychiatry, 71:647-656, 2014.

CHARACTERISTICS OF THE CATION CO-TRANSPORTER NKCC1 IN HUMAN BRAIN: ALTERNATE TRANSCRIPTS, EXPRESSION IN DEVELOPMENT, AND POTENTIAL RELATIONSHIPS TO BRAIN FUNCTION AND SCHIZOPHRENIA
Read Online
Morita Y, Callicott JH, Testa LR, Mighdoll MI, Dickinson D, Chen Q, Tao R, Lipska BK, Kolachana B, Law AJ, Ye T, Straub RE, Weinberger DR, Kleinman JE, Hyde TM. Journal of Neuroscience, 34: 4929-4940, 2014.

INCOMPLETE PENETRANCE OF NRXN1 DELETIONS IN FAMILIES WITH SCHIZOPHRENIA
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Todarello G, Feng N, Kolachana BS, Li C, Vakkalanka R, Bertolino A, Weinberger DR, Straub RE. Schizophrenia Research 155 (1-3): 1-7, 2014.

ALTERED HIPPOCAMPAL-PARAHIPPOCAMPAL FUNCTION DURING STIMULUS ENCODING: A POTENTIAL INDICATOR OF GENETIC LIABILITY FOR SCHIZOPHRENIA
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Rasetti R, Mattay VS, White MG, Sambataro F, Podell JE, Zoltick B, Chen Q, Berman KF, Callicott JH, Weinberger DR. JAMA Psychiatry. Doi:10.1001/2013.3911.

FGF2 AND INSULIN SIGNALING CONVERGE TO REGULATE CYCLIN D EXPRESSION IN MULTIPOTENT NEURAL STEM CELLS
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Adepoju A, Micali N, Ogawa K, Hoeppner DJ, McKay RD. Stem Cells, 32(3):770-8, 2014.

PATERNAL AGE, DE NOVO MUTATIONS AND SCHIZOPHRENIA
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Jaffe AE, Eaton WW, Marenco S, Straub RE, Weinberger DR. Letter to the editor. Molecular Psychiatry, 19:274-75, 2014.

BIOLOGICAL EFFECTS OF CATECHOL-O-METHYLTRANSFERASE HAPLOTYPES AND PSYCHOSIS RISK IN 22Q11.2 DELETION SYNDROME
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Gothelf D, Law A, Frisch A, Chen J, Zarchi O, Michaelovsky E, Ren-Patterson R, Lipska B, Carmel M, Kolachana B, Weizman A, Weinberger DR. Biological Psychiatry. 75(5): 406–413, 2014.

EPISTATIC INTERACTION OF COMT AND DTNBP1 MODULATES PREFRONTAL FUNCTION IN MICE AND IN HUMANS
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Papaleo F, Burdick M, Callicott J, Weinberger DR. Molecular Psychiatry, 19: 311-316, 2014.

ACCOUNTING FOR CELLULAR HETEROGENEITY IS CRITICAL IN EPIGENOME-WIDE ASSOCIATION STUDIES
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Jaffe AE, Irizarry RA. Genome Biology, 15(2):R31, 2014 (Epub).