De novo mutations in schizophrenia implicate synaptic networks

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1. Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database
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2. Shared Molecular Neuropathology Across Major Psychiatric Disorders Parallels Polygenic Overlap
   Michael J. Gandal, Jillian R. Haney, Neelroop Parikshak, Virpi Leppä, Gokul Ramaswami, Christopher Hartl, Andrew Joseph Schork, Vivek Appadurai, Alfonso Buil, Thomas Mears Werge et al. · 2019 · FOCUS The Journal of Lifelong Learning in Psychiatry
3. The polygenic architecture of schizophrenia — rethinking pathogenesis and nosology
   Olav Bjerkehagen Smeland, Oleksandr Frei, Anders Martin Dale, Ole A. Andreassen · 2020 · Nature Reviews Neurology
4. The NMDA receptor ‘glycine modulatory site’ in schizophrenia: d-serine, glycine, and beyond
   Balu, Darrick T, Coyle, Joseph T · 2015 · Current Opinion in Pharmacology
5. Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases
   Hongjie Yuan, Chian‐Ming Low, Olivia A. Moody, Andrew Jenkins, Stephen F. Traynelis · 2015 · Molecular Pharmacology
6. Insights into genetics, human biology and disease gleaned from family based genomic studies
   Jennifer Ellen Posey, Anne O’Donnell‐Luria, Jessica X. Chong, Tamar Harel, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Steven G. Buyske, Davut Pehli̇van, Claudia M.B. Carvalho, Samantha M. Baxter et al. · 2019 · Genetics in Medicine
7. Recent genetic findings in schizophrenia and their therapeutic relevance
   Paul J. Harrison · 2014 · Journal of Psychopharmacology
8. Gene expression imputation across multiple brain regions provides insights into schizophrenia risk
   Laura M. Huckins, Robin M. Murray, Amanda L. Dobbyn, Douglas M. Ruderfer, Gabriel E. Hoffman, Weiqing Wang, Antonio F. Pardiñas, Veera Manikandan Rajagopal, Thomas D. Als, Hoang T. Nguyen et al. · 2019 · Nature Genetics
9. Genomic findings in schizophrenia and their implications
   Michael John Owen, Sophie E. Legge, Elliott Rees, James Walters, Michael C. O’Donovan · 2023 · Molecular Psychiatry
10. Psychiatric Disorders: Diagnosis to Therapy
    John Harrison Krystal, Matthew W. State · 2014 · Cell
11. L1-associated genomic regions are deleted in somatic cells of the healthy human brain
    Erwin, Jennifer A, Paquola, Apuã C M, Singer, Tatjana, Gallina, Iryna, Novotny, Mark, Quayle, Carolina, Bedrosian, Tracy A, Alves, Francisco I A, Butcher, Cheyenne R, Herdy, Joseph R et al. · 2016 · Nature Neuroscience
12. Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia
    Pocklington, Andrew J., Rees, Elliott, Walters, James T.R., Han, Jun, Kavanagh, David H., Chambert, Kimberly D., Holmans, Peter, Moran, Jennifer L., McCarroll, Steven A., Kirov, George et al. · 2015 · Neuron
13. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
    Pizzo, Lucilla, Jensen, Matthew, Polyak, Andrew, Rosenfeld, Jill A., Mannik, Katrin, Krishnan, Arjun, McCready, Elizabeth, Pichon, Olivier, Le Caignec, Cedric, Van Dijck, Anke et al. · 2019 · Genetics in Medicine
14. Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci
    Atsushi Takata, Naomichi Matsumoto, Tadafumi Kato · 2017 · Nature Communications
15. An expanded sequence context model broadly explains variability in polymorphism levels across the human genome
    Varun Aggarwala, Benjamin F. Voight · 2016 · Nature Genetics
16. De Novo Coding Variants Are Strongly Associated with Tourette Disorder
    Willsey, A. Jeremy, Fernandez, Thomas V., Yu, Dongmei, King, Robert A., Dietrich, Andrea, Xing, Jinchuan, Sanders, Stephan J., Mandell, Jeffrey D., Huang, Alden Y., Richer, Petra et al. · 2017 · Neuron
17. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
    Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe, Tychele N. Turner, Holly A.F. Stessman, Kendra Hoekzema, Malin Kvarnung, Marie A Shaw, Kathryn L. Friend et al. · 2017 · Nature Neuroscience
18. Shank synaptic scaffold proteins: keys to understanding the pathogenesis of autism and other synaptic disorders
    Carlo Sala, Cinzia Vicidomini, Ilaria Bigi, Adele Mossa, Chiara Verpelli · 2015 · Journal of Neurochemistry
19. Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
    Michael Zech, Sylvia Boesch, Esther M. Maier, Ingo Borggraefe, Katharina Vill, Franco A. Laccone, Veronika Pilshofer, Andrés Ceballos-Baumann, Bader Alhaddad, Riccardo Berutti et al. · 2016 · The American Journal of Human Genetics
20. Distinctive transcriptome alterations of prefrontal pyramidal neurons in schizophrenia and schizoaffective disorder
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21. Arc protein: a flexible hub for synaptic plasticity and cognition
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22. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families
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23. De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder
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24. NMDA receptors are selectively partitioned into complexes and supercomplexes during synapse maturation
    René Frank, Noboru H. Komiyama, Tomás J. Ryan, Fei Zhu, Thomas J. O’Dell, Seth G. N. Grant · 2016 · Nature Communications
25. Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder
    Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno et al. · 2018 · Cell Reports
26. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes
    Douglas M. Ruderfer, Tymor Hamamsy, Monkol Lek, Konrad J. Karczewski, David Kavanagh, Kaitlin E. Samocha, Mark J. Daly, Daniel G. MacArthur, Menachem Fromer, Shaun Purcell · 2016 · Nature Genetics
27. Actin Out: Regulation of the Synaptic Cytoskeleton
    Spence, Erin F., Soderling, Scott H. · 2015 · Journal of Biological Chemistry
28. Genetics of Schizophrenia: Overview of Methods, Findings and Limitations
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29. Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach
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30. Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations
    Howrigan, Daniel P., Rose, Samuel A., Samocha, Kaitlin E., Fromer, Menachem, Cerrato, Felecia, Chen, Wei J., Churchhouse, Claire, Chambert, Kimberly, Chandler, Sharon D., Daly, Mark J. et al. · 2020 · Nature Neuroscience
31. A quantitative review of the postmortem evidence for decreased cortical N-methyl-d-aspartate receptor expression levels in schizophrenia: How can we link molecular abnormalities to mismatch negativity deficits?
    Vibeke Sorensen Catts, Yan Ling Lai, Cynthia Shannon Weickert, Thomas Wesley Weickert, Stanley Victor Catts · 2015 · Biological Psychology
32. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription
    Cristina Dias, Sara B. Estruch, Sarah A. Graham, Jeremy F. McRae, Stephen J. Sawiak, Jane A. Hurst, Shelagh K. Joss, Susan Holder, Jenny E.V. Morton, Claire Turner et al. · 2016 · The American Journal of Human Genetics
33. NMDAR Hypofunction Animal Models of Schizophrenia
    Gloria S. Lee, Yi Zhou · 2019 · Frontiers in Molecular Neuroscience
34. Evaluation of chromatin accessibility in prefrontal cortex of individuals with schizophrenia
    Bryois, Julien, Garrett, Melanie E., Song, Lingyun, Safi, Alexias, Giusti-Rodriguez, Paola, Johnson, Graham D., Shieh, Annie W., Buil, Alfonso, Fullard, John F., Roussos, Panos et al. · 2018 · Nature Communications
35. Social deficits in IRSp53 mutant mice improved by NMDAR and mGluR5 suppression
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36. Autism Spectrum Disorders and Schizophrenia Spectrum Disorders: Excitation/Inhibition Imbalance and Developmental Trajectories
    Roberto Canitano, Mauro Pallagrosi · 2017 · Frontiers in Psychiatry
37. Implications for reactive oxygen species in schizophrenia pathogenesis
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38. Structural Basis of Arc Binding to Synaptic Proteins: Implications for Cognitive Disease
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39. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
    Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fencková, Osnat Penn, Alexander Hoischen, Bo Xiong, Tianyun Wang, Kendra Hoekzema, Laura Vives, Ida Vogel et al. · 2016 · The American Journal of Human Genetics
40. Transcriptional signatures of schizophrenia in hiPSC-derived NPCs and neurons are concordant with post-mortem adult brains
    Gabriel E. Hoffman, Brigham J. Hartley, Erin K. Flaherty, Ian Ladran, Peter Gochman, Douglas M. Ruderfer, Eli A. Stahl, Judith L. Rapoport, Pamela B. Sklar, Kristen Brennand · 2017 · Nature Communications
41. The implications of the shared genetics of psychiatric disorders
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42. Modeling psychiatric disorders for developing effective treatments
    Kaiser, Tobias, Feng, Guoping · 2015 · Nature Medicine
43. Molecular underpinnings of prefrontal cortex development in rodents provide insights into the etiology of neurodevelopmental disorders
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44. Altered Hub Functioning and Compensatory Activations in the Connectome: A Meta-Analysis of Functional Neuroimaging Studies in Schizophrenia
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45. Proteomic and genomic evidence implicates the postsynaptic density in schizophrenia
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46. Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases
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47. Comorbidity of intellectual disability confounds ascertainment of autism: implications for genetic diagnosis
    Andrew Polyak, Richard M. Kubina, Santhosh Girirajan · 2015 · American Journal of Medical Genetics Part B Neuropsychiatric Genetics
48. Transcriptomic Landscape and Functional Characterization of Induced Pluripotent Stem Cell–Derived Cerebral Organoids in Schizophrenia
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49. Do premorbid and post-onset cognitive functioning differ between schizophrenia and bipolar disorder? A systematic review and meta-analysis
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50. Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia
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51. Prioritization of neurodevelopmental disease genes by discovery of new mutations
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52. New Approaches to Psychiatric Diagnostic Classification
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53. 14-3-3 Proteins in Brain Development: Neurogenesis, Neuronal Migration and Neuromorphogenesis
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54. De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
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55. PSD-95 deficiency disrupts PFC-associated function and behavior during neurodevelopment
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56. Recapitulation and Reversal of Schizophrenia-Related Phenotypes in Setd1a-Deficient Mice
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57. Fluorescent nanodiamond tracking reveals intraneuronal transport abnormalities induced by brain-disease-related genetic risk factors
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58. Mapping the Consequences of Impaired Synaptic Plasticity in Schizophrenia through Development: An Integrative Model for Diverse Clinical Features
    Jennifer K. Forsyth, David A. Lewis · 2017 · Trends in Cognitive Sciences
59. The mutation rate in human evolution and demographic inference
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60. Autism spectrum disorder severity reflects the average contribution of de novo and familial influences
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61. Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease
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62. Human evolved regulatory elements modulate genes involved in cortical expansion and neurodevelopmental disease susceptibility
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63. Carbonic anhydrases in metazoan model organisms: molecules, mechanisms, and physiology
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64. Sodium channelopathies of skeletal muscle and brain
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65. A Bayesian framework that integrates multi-omics data and gene networks predicts risk genes from schizophrenia GWAS data
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66. Common alleles contribute to schizophrenia in CNV carriers
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67. Learning from the past and looking to the future: emerging perspectives for improving the treatment of psychiatric disorders
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68. The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity
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69. Transcriptome sequencing and genome-wide association analyses reveal lysosomal function and actin cytoskeleton remodeling in schizophrenia and bipolar disorder
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70. A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation
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71. One gene, many neuropsychiatric disorders: lessons from Mendelian diseases
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72. Postsynaptic density proteins and their involvement in neurodevelopmental disorders
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73. Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “ de novo ” SCN1A Mutations in Children with Dravet Syndrome
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74. Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric Disorders
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75. High-resolution copy number variation analysis of schizophrenia in Japan
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76. Syngap1 Haploinsufficiency Damages a Postnatal Critical Period of Pyramidal Cell Structural Maturation Linked to Cortical Circuit Assembly
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77. De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia
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78. An assessment of sex bias in neurodevelopmental disorders
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79. Genetics of Eating Disorders
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80. De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia
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81. The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders
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82. A framework for the investigation of rare genetic disorders in neuropsychiatry
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83. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
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84. Spine pruning drives antipsychotic-sensitive locomotion via circuit control of striatal dopamine
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85. Regulation of neuronal migration, an emerging topic in autism spectrum disorders
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86. AGC1/2, the mitochondrial aspartate-glutamate carriers
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87. Whole genome sequencing in psychiatric disorders: the WGSPD consortium
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88. ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties
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89. Autism and Schizophrenia-Associated CYFIP1 Regulates the Balance of Synaptic Excitation and Inhibition
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90. Activity-regulated trafficking of the palmitoyl-acyl transferase DHHC5
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91. The proteome of schizophrenia
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92. Hermansky–Pudlak syndrome: Mutation update
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93. Structural plasticity: mechanisms and contribution to developmental psychiatric disorders
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94. Neuronal impact of patient-specific aberrant NRXN1α splicing
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95. Transcriptome Alterations in Prefrontal Pyramidal Cells Distinguish Schizophrenia From Bipolar and Major Depressive Disorders
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96. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders
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97. Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry
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98. Checks and balances on cholinergic signaling in brain and body function
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99. Future of Days Past: Neurodevelopment and Schizophrenia
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100. Thalamic Reticular Dysfunction as a Circuit Endophenotype in Neurodevelopmental Disorders
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