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3. Cover

Author

Breen, Michael P.

Published
2007

6. Index

Author

Breen, Michael P.

Published
2007

9. Back Cover

Author

Breen, Michael P.

Published
2007

16. Notes

Author

Breen, Michael P.

Published
2007

20. Author Correction: Divergent landscapes of A-to-I editing in postmortem and living human brain

Author

Rodriguez de los Santos, Miguel, Kopell, Brian H., Buxbaum Grice, Ariela, Ganesh, Gauri, Yang, Andy, Amini, Pardis, Liharska, Lora E., Vornholt, Eric, Fullard, John F., Dong, Pengfei, Park, Eric, Zipkowitz, Sarah, Kaji, Deepak A., Thompson, Ryan C., Liu, Donjing, Park, You Jeong, Cheng, Esther, Ziafat, Kimia, Moya, Emily, Fennessy, Brian, Wilkins, Lillian, Silk, Hannah, Linares, Lisa M., Sullivan, Brendan, Cohen, Vanessa, Kota, Prashant, Feng, Claudia, Johnson, Jessica S., Rieder, Marysia-Kolbe, Scarpa, Joseph, Nadkarni, Girish N., Wang, Minghui, Zhang, Bin, Sklar, Pamela, Beckmann, Noam D., Schadt, Eric E., Roussos, Panos, Charney, Alexander W., and Breen, Michael S.

Published
2024
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21. Divergent landscapes of A-to-I editing in postmortem and living human brain

Author

Rodriguez de los Santos, Miguel, Kopell, Brian H., Buxbaum Grice, Ariela, Ganesh, Gauri, Yang, Andy, Amini, Pardis, Liharska, Lora E., Vornholt, Eric, Fullard, John F., Dong, Pengfei, Park, Eric, Zipkowitz, Sarah, Kaji, Deepak A., Thompson, Ryan C., Liu, Donjing, Park, You Jeong, Cheng, Esther, Ziafat, Kimia, Moya, Emily, Fennessy, Brian, Wilkins, Lillian, Silk, Hannah, Linares, Lisa M., Sullivan, Brendan, Cohen, Vanessa, Kota, Prashant, Feng, Claudia, Johnson, Jessica S., Rieder, Marysia-Kolbe, Scarpa, Joseph, Nadkarni, Girish N., Wang, Minghui, Zhang, Bin, Sklar, Pamela, Beckmann, Noam D., Schadt, Eric E., Roussos, Panos, Charney, Alexander W., and Breen, Michael S.

Published
2024
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22. A primer on the use of machine learning to distil knowledge from data in biological psychiatry

Author

Quinn, Thomas P., Hess, Jonathan L., Marshe, Victoria S., Barnett, Michelle M., Hauschild, Anne-Christin, Maciukiewicz, Malgorzata, Elsheikh, Samar S. M., Men, Xiaoyu, Schwarz, Emanuel, Trakadis, Yannis J., Breen, Michael S., Barnett, Eric J., Zhang-James, Yanli, Ahsen, Mehmet Eren, Cao, Han, Chen, Junfang, Hou, Jiahui, Salekin, Asif, Lin, Ping-I, Nicodemus, Kristin K., Meyer-Lindenberg, Andreas, Bichindaritz, Isabelle, Faraone, Stephen V., Cairns, Murray J., Pandey, Gaurav, Müller, Daniel J., and Glatt, Stephen J.

Published
2024
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24. Asymmetric strategies as strategies of the strong

Author

Breen, Michael and Geltzer, Joshua A.

Subjects
ASYMMETRIC WARFARE - Methodology, ASYMMETRIC WARFARE - Lessons Learned, STRATEGIC WARFARE, INFORMATION WARFARE
Abstract

bibliog

Published
2011

25. Spatiotemporal and genetic regulation of A-to-I editing throughout human brain development

Author

Cuddleston, Winston H, Fan, Xuanjia, Sloofman, Laura, Liang, Lindsay, Mossotto, Enrico, Moore, Kendall, Zipkowitz, Sarah, Wang, Minghui, Zhang, Bin, Wang, Jiebiao, Sestan, Nenad, Devlin, Bernie, Roeder, Kathryn, Sanders, Stephan J, Buxbaum, Joseph D, and Breen, Michael S

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Congenital Structural Anomalies, Genetics, Neurosciences, Pediatric, 1.1 Normal biological development and functioning, Underpinning research, Neurological, Humans, Animals, Mice, RNA Editing, Inosine, Adenosine, Primates, 3' Untranslated Regions, Brain, Adenosine Deaminase, CP: Molecular biology, CP: Neuroscience, RNA modifications, RNA recoding, brain maturation, edQTLs, hyper-editing, late-fetal transition, Biochemistry and Cell Biology, Medical Physiology, Biological sciences
Abstract

Posttranscriptional RNA modifications by adenosine-to-inosine (A-to-I) editing are abundant in the brain, yet elucidating functional sites remains challenging. To bridge this gap, we investigate spatiotemporal and genetically regulated A-to-I editing sites across prenatal and postnatal stages of human brain development. More than 10,000 spatiotemporally regulated A-to-I sites were identified that occur predominately in 3' UTRs and introns, as well as 37 sites that recode amino acids in protein coding regions with precise changes in editing levels across development. Hyper-edited transcripts are also enriched in the aging brain and stabilize RNA secondary structures. These features are conserved in murine and non-human primate models of neurodevelopment. Finally, thousands of cis-editing quantitative trait loci (edQTLs) were identified with unique regulatory effects during prenatal and postnatal development. Collectively, this work offers a resolved atlas linking spatiotemporal variation in editing levels to genetic regulatory effects throughout distinct stages of brain maturation.

Published
2022

28. Cellular and genetic drivers of RNA editing variation in the human brain

Author

Cuddleston, Winston H, Li, Junhao, Fan, Xuanjia, Kozenkov, Alexey, Lalli, Matthew, Khalique, Shahrukh, Dracheva, Stella, Mukamel, Eran A, and Breen, Michael S

Subjects
Neurosciences, Genetics, 1.1 Normal biological development and functioning, Underpinning research, Neurological, Brain, Humans, Inosine, Quantitative Trait Loci, RNA, RNA Editing
Abstract

Posttranscriptional adenosine-to-inosine modifications amplify the functionality of RNA molecules in the brain, yet the cellular and genetic regulation of RNA editing is poorly described. We quantify base-specific RNA editing across three major cell populations from the human prefrontal cortex: glutamatergic neurons, medial ganglionic eminence-derived GABAergic neurons, and oligodendrocytes. We identify more selective editing and hyper-editing in neurons relative to oligodendrocytes. RNA editing patterns are highly cell type-specific, with 189,229 cell type-associated sites. The cellular specificity for thousands of sites is confirmed by single nucleus RNA-sequencing. Importantly, cell type-associated sites are enriched in GTEx RNA-sequencing data, edited ~twentyfold higher than all other sites, and variation in RNA editing is largely explained by neuronal proportions in bulk brain tissue. Finally, we uncover 661,791 cis-editing quantitative trait loci across thirteen brain regions, including hundreds with cell type-associated features. These data reveal an expansive repertoire of highly regulated RNA editing sites across human brain cell types and provide a resolved atlas linking cell types to editing variation and genetic regulatory effects.

Published
2022

30. Acetate supplementation rescues social deficits and alters transcriptional regulation in prefrontal cortex of Shank3 deficient mice

Author

Osman, Aya, Mervosh, Nicholas L., Strat, Ana N., Euston, Tanner J., Zipursky, Gillian, Pollak, Rebecca M., Meckel, Katherine R., Tyler, Scott R., Chan, Kenny L., Buxbaum Grice, Ariela, Drapeau, Elodie, Litichevskiy, Lev, Gill, Jasleen, Zeldin, Sharon M., Thaiss, Christoph A., Buxbaum, Joseph.D., Breen, Michael S., and Kiraly, Drew D.

Published
2023
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31. GL7 ligand expression defines a novel subset of CD4+ TRM cells in lungs recovered from pneumococcus

Author

Lyon De Ana, Carolina, Shenoy, Anukul T., Barker, Kimberly A., Arafa, Emad I., Etesami, Neelou S., Korkmaz, Filiz T., Soucy, Alicia M., Breen, Michael P., Martin, Ian M.C., Tilton, Brian R., Devarajan, Priyadharshini, Crossland, Nicholas A., Pihl, Riley M.F., Goltry, Wesley N., Belkina, Anna C., Jones, Matthew R., Quinton, Lee J., and Mizgerd, Joseph P.

Published
2023
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33. Introduction

Author

He, Baogang, primary, Breen, Michael G., additional, and Allison-Reumann, Laura, additional

Published
2023
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39. Conclusion

Author

He, Baogang, primary, Breen, Michael G., additional, and Allison-Reumann, Laura, additional

Published
2023
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40. Modeling gene × environment interactions in PTSD using human neurons reveals diagnosis-specific glucocorticoid-induced gene expression

Author

Seah, Carina, Breen, Michael S., Rusielewicz, Tom, Bader, Heather N., Xu, Changxin, Hunter, Christopher J., McCarthy, Barry, Deans, P. J. Michael, Chattopadhyay, Mitali, Goldberg, Jordan, Desarnaud, Frank, Makotkine, Iouri, Flory, Janine D., Bierer, Linda M., Staniskyte, Migle, Noggle, Scott A., Huckins, Laura M., Paull, Daniel, Brennand, Kristen J., and Yehuda, Rachel

Published
2022
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41. 5-GHz Antisymmetric Mode Acoustic Delay Lines in Lithium Niobate Thin Film

Author

Lu, Ruochen, Yang, Yansong, Li, Ming-Huang, Breen, Michael, and Gong, Songbin

Subjects
Electrical Engineering and Systems Science - Signal Processing, Physics - Applied Physics
Abstract

We present the first group of acoustic delay lines (ADLs) at 5 GHz, using the first-order antisymmetric (A1) mode in Z-cut lithium niobate thin films. The demonstrated ADLs significantly surpass the operation frequency of the previous works with similar feature sizes, because of its simultaneously fast phase velocity, large coupling coefficient, and low-loss. In this work, the propagation characteristics of the A1 mode in lithium niobate is analytically modeled and validated with finite element analysis. The design space of A1 ADLs is then investigated, including both the fundamental design parameters and those introduced from the practical implementation. The implemented ADLs at 5 GHz show a minimum insertion loss of 7.94 dB, an average IL of 9.1 dB, and a fractional bandwidth around 4%, with delays ranging between 15 ns to 109 ns and the center frequencies between 4.5 GHz and 5.25 GHz. The propagation characteristics of A1 mode acoustic waves have also been extracted for the first time. The A1 ADL platform can potentially enable wide-band high-frequency passive signal processing functions for future 5G applications in the sub-6 GHz spectrum bands., Comment: 16 pages, 27 figures

Published
2019
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42. Acoustically Driven and Modulation Inducible Radiating Elements

Author

Hassanien, Ahmed E., Breen, Michael, Li, Ming-Huang, and Gong, Songbin

Subjects
Physics - Applied Physics
Abstract

The low propagation loss of electromagnetic radiation below 1 MHz offers significant opportunities for low power, long range communication systems to meet growing demands for IoT applications. Especially in the very low frequency (VLF: 3-30 kHz) range and lower, propagation through tens of meters of seawater, hundreds of meters of earth, and hundreds of kilometers of air with only 2-3 dB of loss is possible. However, the fundamental reduction in efficiency as the size of electrical antennas decreases below a wavelength (30 m at 1 MHz) has made portable communication systems in the VLF and low frequency (LF: 30-300 kHz) ranges impractical for decades. A paradigm shift from electrical to piezoelectric antennas utilizing strain-driven currents at resonant wavelengths up to five orders of magnitude smaller than electrical antennas offers the promise for orders of magnitude efficiency improvement over the electrical state-of-the-art. This work demonstrates a lead zirconate titanate transmitter >6000 times more efficient than a comparably sized electrical antenna and capable of bit rates up to 60 bit/s using frequency-shift keying. Detailed analysis of design parameters offers a roadmap for significant future improvement in both radiation efficiency and data rate in the new field of acoustically driven antennas., Comment: 12 pages, 6 figures, Journal

Published
2019

43. Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

Author

Breen, Michael S, Garg, Paras, Tang, Lara, Mendonca, Danielle, Levy, Tess, Barbosa, Mafalda, Arnett, Anne B, Kurtz-Nelson, Evangeline, Agolini, Emanuele, Battaglia, Agatino, Chiocchetti, Andreas G, Freitag, Christine M, Garcia-Alcon, Alicia, Grammatico, Paola, Hertz-Picciotto, Irva, Ludena-Rodriguez, Yunin, Moreno, Carmen, Novelli, Antonio, Parellada, Mara, Pascolini, Giulia, Tassone, Flora, Grice, Dorothy E, Di Marino, Daniele, Bernier, Raphael A, Kolevzon, Alexander, Sharp, Andrew J, Buxbaum, Joseph D, Siper, Paige M, and De Rubeis, Silvia

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Brain Disorders, Basic Behavioral and Social Science, Intellectual and Developmental Disabilities (IDD), Mental Health, Behavioral and Social Science, Autism, Neurosciences, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Autism Spectrum Disorder, Child, DNA Methylation, Developmental Disabilities, Epigenesis, Genetic, Female, Homeodomain Proteins, Humans, Intellectual Disability, Male, Mutation, Nerve Tissue Proteins, Neurodevelopmental Disorders, Phenotype, Transcriptome, ADNP, DNA methylation, Helsmoortel-Van der Aa syndrome, autism spectrum disorder, biomarkers, epigenetic signature, episignature, genotype-phenotype correlations, intellectual disability, neurodevelopmental disorders, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Helsmoortel-Van der Aa syndrome (HVDAS) is a neurodevelopmental condition associated with intellectual disability/developmental delay, autism spectrum disorder, and multiple medical comorbidities. HVDAS is caused by mutations in activity-dependent neuroprotective protein (ADNP). A recent study identified genome-wide DNA methylation changes in 22 individuals with HVDAS, adding to the group of neurodevelopmental disorders with an epigenetic signature. This methylation signature segregated those with HVDAS into two groups based on the location of the mutations. Here, we conducted an independent study on 24 individuals with HVDAS and replicated the existence of the two mutation-dependent episignatures. To probe whether the two distinct episignatures correlate with clinical outcomes, we used deep behavioral and neurobiological data from two prospective cohorts of individuals with a genetic diagnosis of HVDAS. We found limited phenotypic differences between the two HVDAS-affected groups and no evidence that individuals with more widespread methylation changes are more severely affected. Moreover, in spite of the methylation changes, we observed no profound alterations in the blood transcriptome of individuals with HVDAS. Our data warrant caution in harnessing methylation signatures in HVDAS as a tool for clinical stratification, at least with regard to behavioral phenotypes.

Published
2020

44. Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts

Author

Huckins, Laura M, Chatzinakos, Chris, Breen, Michael S, Hartmann, Jakob, Klengel, Torsten, da Silva Almeida, Ana C, Dobbyn, Amanda, Girdhar, Kiran, Hoffman, Gabriel E, Klengel, Claudia, Logue, Mark W, Lori, Adriana, Maihofer, Adam X, Morrison, Filomene G, Nguyen, Hoang T, Park, Yongjin, Ruderfer, Douglas, Sloofman, Laura G, van Rooij, Sanne JH, Consortium, PTSD Working Group of Psychiatric Genomics, Baker, Dewleen G, Chen, Chia-Yen, Cox, Nancy, Duncan, Laramie E, Geyer, Mark A, Glatt, Stephen J, Im, Hae Kyung, Risbrough, Victoria B, Smoller, Jordan W, Stein, Dan J, Yehuda, Rachel, Liberzon, Israel, Koenen, Karestan C, Jovanovic, Tanja, Kellis, Manolis, Miller, Mark W, Bacanu, Silviu-Alin, Nievergelt, Caroline M, Buxbaum, Joseph D, Sklar, Pamela, Ressler, Kerry J, Stahl, Eli A, and Daskalakis, Nikolaos P

Subjects
Genetics, Brain Disorders, Post-Traumatic Stress Disorder (PTSD), Mental Health, Neurosciences, 1.1 Normal biological development and functioning, Underpinning research, Neurological, Animals, Case-Control Studies, Cohort Studies, Dexamethasone, Down-Regulation, Gene Expression Regulation, Gene Regulatory Networks, Genetic Predisposition to Disease, Humans, Leukocytes, Male, Mice, Mice, Inbred C57BL, Military Personnel, Prefrontal Cortex, RNA Interference, RNA, Small Interfering, Repressor Proteins, Ribonucleoproteins, Small Nuclear, Stress Disorders, Post-Traumatic, PTSD Working Group of Psychiatric Genomics Consortium, GWAS, PTSD, blood, civilian, glucocorticoid, military, prefrontal cortex, sex, splicing, transcriptomic imputation, genetics, Transcriptomic Imputation, trauma, Biochemistry and Cell Biology, Medical Physiology
Abstract

To reveal post-traumatic stress disorder (PTSD) genetic risk influences on tissue-specific gene expression, we use brain and non-brain transcriptomic imputation. We impute genetically regulated gene expression (GReX) in 29,539 PTSD cases and 166,145 controls from 70 ancestry-specific cohorts and identify 18 significant GReX-PTSD associations corresponding to specific tissue-gene pairs. The results suggest substantial genetic heterogeneity based on ancestry, cohort type (military versus civilian), and sex. Two study-wide significant PTSD associations are identified in European and military European cohorts; ZNF140 is predicted to be upregulated in whole blood, and SNRNP35 is predicted to be downregulated in dorsolateral prefrontal cortex, respectively. In peripheral leukocytes from 175 marines, the observed PTSD differential gene expression correlates with the predicted differences for these individuals, and deployment stress produces glucocorticoid-regulated expression changes that include downregulation of both ZNF140 and SNRNP35. SNRNP35 knockdown in cells validates its functional role in U12-intron splicing. Finally, exogenous glucocorticoids in mice downregulate prefrontal Snrnp35 expression.

Published
2020

45. Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex.

Author

Werling, Donna M, Pochareddy, Sirisha, Choi, Jinmyung, An, Joon-Yong, Sheppard, Brooke, Peng, Minshi, Li, Zhen, Dastmalchi, Claudia, Santpere, Gabriel, Sousa, André MM, Tebbenkamp, Andrew TN, Kaur, Navjot, Gulden, Forrest O, Breen, Michael S, Liang, Lindsay, Gilson, Michael C, Zhao, Xuefang, Dong, Shan, Klei, Lambertus, Cicek, A Ercument, Buxbaum, Joseph D, Adle-Biassette, Homa, Thomas, Jean-Leon, Aldinger, Kimberly A, O'Day, Diana R, Glass, Ian A, Zaitlen, Noah A, Talkowski, Michael E, Roeder, Kathryn, State, Matthew W, Devlin, Bernie, Sanders, Stephan J, and Sestan, Nenad

Subjects
BrainVar, DLPFC, LOC101926933 RP11-298I3.1 AL132780.1 ENSG00000257285, PsychENCODE, RHEBL1, dorsolateral prefrontal cortex, fetal transition, mTOR, prenatal eQTL, Biochemistry and Cell Biology, Medical Physiology
Abstract

Gene expression levels vary across developmental stage, cell type, and region in the brain. Genomic variants also contribute to the variation in expression, and some neuropsychiatric disorder loci may exert their effects through this mechanism. To investigate these relationships, we present BrainVar, a unique resource of paired whole-genome and bulk tissue RNA sequencing from the dorsolateral prefrontal cortex of 176 individuals across prenatal and postnatal development. Here we identify common variants that alter gene expression (expression quantitative trait loci [eQTLs]) constantly across development or predominantly during prenatal or postnatal stages. Both "constant" and "temporal-predominant" eQTLs are enriched for loci associated with neuropsychiatric traits and disorders and colocalize with specific variants. Expression levels of more than 12,000 genes rise or fall in a concerted late-fetal transition, with the transitional genes enriched for cell-type-specific genes and neuropsychiatric risk loci, underscoring the importance of cataloging developmental trajectories in understanding cortical physiology and pathology.

Published
2020

46. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Author

Satterstrom, F Kyle, Kosmicki, Jack A, Wang, Jiebiao, Breen, Michael S, De Rubeis, Silvia, An, Joon-Yong, Peng, Minshi, Collins, Ryan, Grove, Jakob, Klei, Lambertus, Stevens, Christine, Reichert, Jennifer, Mulhern, Maureen S, Artomov, Mykyta, Gerges, Sherif, Sheppard, Brooke, Xu, Xinyi, Bhaduri, Aparna, Norman, Utku, Brand, Harrison, Schwartz, Grace, Nguyen, Rachel, Guerrero, Elizabeth E, Dias, Caroline, Consortium, Autism Sequencing, Aleksic, Branko, Anney, Richard, Barbosa, Mafalda, Bishop, Somer, Brusco, Alfredo, Bybjerg-Grauholm, Jonas, Carracedo, Angel, Chan, Marcus CY, Chiocchetti, Andreas G, Chung, Brian HY, Coon, Hilary, Cuccaro, Michael L, Curró, Aurora, Bernardina, Bernardo Dalla, Doan, Ryan, Domenici, Enrico, Dong, Shan, Fallerini, Chiara, Fernández-Prieto, Montserrat, Ferrero, Giovanni Battista, Freitag, Christine M, Fromer, Menachem, Gargus, J Jay, Geschwind, Daniel, Giorgio, Elisa, González-Peñas, Javier, Guter, Stephen, Halpern, Danielle, Hansen-Kiss, Emily, He, Xin, Herman, Gail E, Hertz-Picciotto, Irva, Hougaard, David M, Hultman, Christina M, Ionita-Laza, Iuliana, Jacob, Suma, Jamison, Jesslyn, Jugessur, Astanand, Kaartinen, Miia, Knudsen, Gun Peggy, Kolevzon, Alexander, Kushima, Itaru, Lee, So Lun, Lehtimäki, Terho, Lim, Elaine T, Lintas, Carla, Lipkin, W Ian, Lopergolo, Diego, Lopes, Fátima, Ludena, Yunin, Maciel, Patricia, Magnus, Per, Mahjani, Behrang, Maltman, Nell, Manoach, Dara S, Meiri, Gal, Menashe, Idan, Miller, Judith, Minshew, Nancy, Montenegro, Eduarda MS, Moreira, Danielle, Morrow, Eric M, Mors, Ole, Mortensen, Preben Bo, Mosconi, Matthew, Muglia, Pierandrea, Neale, Benjamin M, Nordentoft, Merete, Ozaki, Norio, Palotie, Aarno, Parellada, Mara, Passos-Bueno, Maria Rita, Pericak-Vance, Margaret, Persico, Antonio M, and Pessah, Isaac

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Mental Health, Pediatric, Human Genome, Clinical Research, Autism, Intellectual and Developmental Disabilities (IDD), Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, Autistic Disorder, Case-Control Studies, Cell Lineage, Cerebral Cortex, Cohort Studies, Exome, Female, Gene Expression Regulation, Developmental, Gene Frequency, Genetic Predisposition to Disease, Humans, Male, Mutation, Missense, Neurobiology, Neurons, Phenotype, Sex Factors, Single-Cell Analysis, Exome Sequencing, Autism Sequencing Consortium, iPSYCH-Broad Consortium, autism spectrum disorder, cell type, cytoskeleton, excitatory neurons, excitatory-inhibitory balance, exome sequencing, genetics, inhibitory neurons, liability, neurodevelopment, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences
Abstract

We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate of 0.1 or less. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained to have severe neurodevelopmental delay, whereas 53 show higher frequencies in individuals ascertained to have ASD; comparing ASD cases with mutations in these groups reveals phenotypic differences. Expressed early in brain development, most risk genes have roles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and 13 fall within loci recurrently hit by copy number variants. In cells from the human cortex, expression of risk genes is enriched in excitatory and inhibitory neuronal lineages, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.

Published
2020

50. Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

Author

Warfield, Simon K., Scherrer, Benoit, Filip-Dhima, Rajna, Dies, Kira, Siper, Paige, Hanson, Ellen, Phillips, Jennifer M., Breen, Michael S., Fan, Xuanjia, Levy, Tess, Pollak, Rebecca M., Collins, Brett, Osman, Aya, Tocheva, Anna S., Sahin, Mustafa, Berry-Kravis, Elizabeth, Soorya, Latha, Thurm, Audrey, Powell, Craig M., Bernstein, Jonathan A., Kolevzon, Alexander, and Buxbaum, Joseph D.

Published
2023
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