Microduplications of 16p11.2 are associated with schizophrenia

Wellcome Trust Case Control Consortium, McCarthy, Shane E, Makarov, Vladimir, Kirov, George, Addington, Anjene M, McClellan, Jon, Yoon, Seungtai, Perkins, Diana O +65 more·2009·Nature Genetics
DOI 10.1038/ng.474

Cited by (710)

Items 601–700 of 710

  1. Psychotic Disorders and Best Models of Care
    Philip M. Yam, Dinesh Mittal M. D, Ayman H. Fanous · 2019 · Springer eBooks
  2. Polyserases
    Ángela Moncada-Pazos, Santiago Cal, Carlos López-Otı́n · 2012 · Handbook of Proteolytic Enzymes
  3. Frontiers in Clinical Drug Research - Alzheimer Disorders
    Atta-ur-rahman, Chrystelle Mavoungou, K. S. Zimmerman, John Wright, J. Harding, R. Cavallaro, A. Fuso, Y. Yoshiyama, Zaciragic Asija, A. Clifford et al. · 2015 · BENTHAM SCIENCE PUBLISHERS eBooks
  4. Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray
    Tien-Yu Yao, Wan-Ju Wu, Kim-Seng Law, Mei-Hui Lee, Shun‐Ping Chang, Dong-Jay Lee, Wen‐Hsiang Lin, Ming Chen, Gwo‐Chin Ma · 2021 · Diagnostics
  5. Facteurs génétiques impliqués dans l'autisme : revue de la littérature et recommandations cliniques
    Pauline Chaste, Richard Delorme, Marion Leboyer · 2014 · Encyclopédie médico-chirurgicale. Psychiatrie
  6. Genetics of bipolar disorder and schizophrenia
    Tim B. Bigdeli, Philip D. Harvey · 2022 · Oxford University Press eBooks
  7. snakeSV: Flexible Framework for Large-Scale SV Discovery
    Ricardo A. Vialle, Towfique Raj · 2022 · Neuromethods
  8. Development of novel therapy of schizophrenia in children and adolescents
    Corinna Klein, Anton Bespalov · 2014 · Expert Opinion on Investigational Drugs
  9. Convergencias y divergencias genéticas, neurobiológicas y ambientales entre el autismo y el espectro de la esquizofrenia
    Isabel Paula-Pérez · 2018 · Anuario de Psicología/The UB Journal of Psychology
  10. A contemporary view on the molecular basis of neurodevelopmental disorders
    Ilse M. van der Werf, Geert Vandeweyer, R. Frank Kooy · 2019 · Elsevier eBooks
  11. Phenotypic Trade-Offs: Deciphering the Impact of Neurodiversity on Drug Development in Fragile X Syndrome
    Truong An Bui, Julie Shatto, Tania Cuppens, Arnaud Droit, François V. Bolduc · 2021 · Frontiers in Psychiatry
  12. Copy Number Variants and Their Contribution to the Risk of Obesity
    Julia S. El-Sayed Moustafa, Philippe Froguel · 2013 · Springer eBooks
  13. Making a mouse model for schizophrenia:Using the mouse to model the schizophreniasusceptibility gene ZNF804A
    Tamara Al‐Janabi · 2012 · ORCA Online Research @Cardiff (Cardiff University)
  14. RARE GENOMIC DELETIONS UNDERLYING SCHIZOPHRENIA AND RELATED NEURODEVELOPMENTAL DISORDERS
    Olli P. H. Pietiläinen · 2014 · Työväentutkimus Vuosikirja
  15. Genetic and Biological Influences
    David Skuse · 2017 · Wiley eBooks
  16. Quantifying the Effects of Rare Variants in Pedigrees
    Eric M. Morrow · 2014 · JAMA Psychiatry
  17. Complete and haplotype-specific sequence assembly of segmental duplication-mediated genome rearrangements using CRISPR-targeted ultra-long read sequencing (CTLR-Seq)
    Bo Zhou, Gi Won Shin, Stephanie Greer, Lisanne Vervoort, Yi‐Ling Huang, Reenal Pattni, Marcus Ho, Wing Hung Wong, Joris Robert Vermeesch, Hanlee P. Ji et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  18. Oligogenic Effects of 16p11.2 Copy Number Variation on Craniofacial Development
    Yuqi Qiu, Thomas Arbogast, Sandra Martín Lorenzo, Honying Li, Shih C. Tang, Ellen Richardson, Oanh Hong, Shawn Cho, Omar Shanta, Timothy Pang et al. · 2019 · SSRN Electronic Journal
  19. Topographic Shifts in Functional Connectivity and Reduced Lateralization in 16p11.2 Deletion Carriers: A Genetics-First Approach to Understanding Autism
    Abid Y. Qureshi, Jared Allen Nielsen, Jorge Sepulcre · 2020
  20. Reprogramming method does not impact the neuronal differentiation potential of 16p11.2 deletion patient iPSCs
    Michael F. Wells, Ellen J. Guss, Hongyan Zhou, Bruce Qiang Sun, Héctor Martínez, The NYSCF Global Stem Cell Array Team, Veronika Akopian, Scott Noggle, Daniel J Paull, Jennifer C. Moore et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  21. Deep multiple-instance learning accurately predicts gene haploinsufficiency and deletion pathogenicity
    Zhihan Liu, Yi-Fei Huang · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  22. Synergistic role of Alu and core duplicon sequences in driving genomic instability at the disease-associated 16p12.3–p13.11 region
    Stefania Fornezza, Giuliana Giannuzzi · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  23. The Somatic Aneuploidy Landscape of Adult Glia Reveals 16p as a Hotspot and Differentiates Mosaicism in Normal Glia from Chromosomal Instability in Glioblastoma
    Cristina Montagna, Olivia Albert, Shixiang Sun, Jhih-Rong Lin, Moonsook Lee, Chang S. Chan, Alexander Y. Maslov, Lisa Ellerby, Anita J Huttner, Zhengdong D. Zhang et al. · 2025 · Research Square
  24. On Identifying Signatures of Positive Selection in Human Populations: A Dissertation
    Jessica L. Crisci · 2013 · The Journal of the American Medical Association (JAMA) Network (American Medical Association)
  25. The DISC1 Pathway in the Genetic Etiology of Schizophrenia
    Liisa Tomppo · 2010 · Työväentutkimus Vuosikirja
  26. Recurrent CNVs in the Etiology of Epigenetic Neurodevelopmental Disorders
    Janine M. LaSalle, Mohammad Saharul Islam · 2013 · Springer eBooks
  27. Genetics of Tourette syndrome and related disorders
    Maria G. Motlagh, Thomas V. Fernandez, James Frederick Leckman · 2012 · Cambridge University Press eBooks
  28. Asperger syndrome and schizophrenia: Psychiatric and social cognitive aspects
    Tove Lugnegård · 2012 · Gothenburg University Publications Electronic Archive (Gothenburg University)
  29. Elucidating functional pathways associated with schizophrenia risk through analysis of brain gene expression
    Eilis J. Hannon · 2013 · ORCA Online Research @Cardiff (Cardiff University)
  30. ROLE OF GENOMIC COPY NUMBER VARIATION IN ALZHEIMER'S DISEASE AND MILD COGNITIVE IMPAIRMENT
    Shanker Swaminathan · 2013 · IUScholarWorks (Indiana University)
  31. Advances in Autism Research – The Genomic Basis of ASD
    Melanie Lacaria, James R. · 2013 · InTech eBooks
  32. Genomic copy number variation in schizophrenia
    Danielle S. Rudd · 2014
  33. Common and rare genetic risk factors for schizophrenia and their associations with cognition
    Leon Hubbard · 2014 · ORCA Online Research @Cardiff (Cardiff University)
  34. Phenomenology is not enough
    M. McCarthy · 2010 · Acta Psychiatrica Scandinavica
  35. Late Breaking Chromosomes
    Martin Poot · 2013 · Molecular Syndromology
  36. Autism and Specific Language Impairment: To Know What We See, or How Your Sample Determines What You Observe
    Young Shin Kim · 2014 · American Journal of Psychiatry
  37. Recent Updates in Schizophrenia Genetics
    Hee Jeong Jeong, Byung Dae Lee, Je‐Min Park, Young Min Lee, Eunsoo Moon · 2013 · Korean Journal of Schizophrenia Research
  38. Neurodevelopmental Genomics of Autism, Schizophrenia, and Related Disorders
    J.F. Cubells, Daniel Moreno‐De‐Luca · 2013 · Elsevier eBooks
  39. schizophrenia-associated loci Analysis of copy number variations at 15
    Michael C. O’Donovan, Michael John Owen, Alexander L. Richards, Gerwyn Mahoney‐Davies, Sophie E. Legge, Jennifer L. Moran, James Walters, Lyudmila Georgieva, Anthony R Isles, Kimberly D. Chambert · 2014
  40. Genome-Wide Association Studies of Obesity and Related Traits
    Karen L. Mohlke, Cecilia M. Lindgren · 2014 · Frontiers in diabetes
  41. Going longitudinal in biological psychiatric research: All things considered
    Todd D. Gould, Ryota Hashimoto, Thomas G. Schulze · 2015 · Neuroscience Research
  42. Identification and characterisation of regionally enriched cortex genes in the rat brain
    Kari M. Ersland · 2012 · NORA - Norwegian Open Research Archives
  43. Multilevel Approaches to Schizophrenia and Other Psychotic Disorders: The Biobehavioral Interface
    Elaine F. Walker, Arthur Thomas Ryan, Katrina Goines, Derek M. Novacek, Sandra M. Goulding, Joy L. Brasfield, Allison N. MacDonald, Hanan D. Trotman · 2016 · Wiley eBooks
  44. Caracterización clínica de pacientes con diagnóstico de trastorno del espectro autista en el Hospital Militar Central e Instituto De Ortopedia Infantil Roosevelt, de enero 2010 a enero de 2014
    Mera Solarte, Paola Rocío · 2016 · Aaltodoc (Aalto University)
  45. Sequencing Approaches to Map Genes Linked to Schizophrenia
    Patrick M. Abou‐Sleiman, Hakon H. Hakonarson · 2016 · Elsevier eBooks
  46. A Genetic signature for complex psychiatric diseases
    Laura Rodriguez‐Murillo, Jeffrey Alan Lieberman · 2010 · Revista de Psiquiatría y Salud Mental (English Edition)
  47. Gene Discovery and Glutamate Signaling Defects in Intellectual Disability and Autism
    Tejasvi Niranjan · 2015
  48. L'autre, le semblable, le différent...
    Arnold Münnich · 2014 · Presses Universitaires de France eBooks
  49. Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios
    Nele Cosemans, Peter D. Claes, Nathalie Brison, Joris Robert Vermeesch, Hilde Peeters · 2018 · Statistical Applications in Genetics and Molecular Biology
  50. Understanding The Complexity of Human Structural Genomic Variation Through Multiple Whole Genome Sequencing Platforms
    Xuefang Zhao · 2017 · Deep Blue (University of Michigan)
  51. Inherited copy number variation in the chicken genome and association with breast muscle traits
    Thaís Fernanda Godoy · 2018
  52. Expression of genes in the 16p11.2 locus during human fetal cortical neurogenesis
    Sarah Morson · 2020 · ERA
  53. Maternal Ube3a is Required for Neurotypical Motivational Drive and GABA co-release
    Janet Berrios Wallace · 2019 · Carolina Digital Repository (University of North Carolina at Chapel Hill)
  54. Autism Spectrum Disorders
    Timothy W. Yu, Michael E. Coulter, Maria H. Chahrour, Christopher A. Walsh · 2012 · Elsevier eBooks
  55. Cognition in Schizophrenia
    Hreinn Stefánsson, Kāri Stefánsson · 2021 · Biological Psychiatry
  56. Psychiatrists’ Perceptions of Schizophrenia and Its Recovery: A Thematic Analysis
    Janice Sargent, Angela Abela · 2021 · Springer eBooks
  57. References
    2013 · CRC Press eBooks
  58. Pleiotropy
    Ellen J. Hoffman · 2021 · Springer eBooks
  59. Faculty Opinions recommendation of Copy number variation in bipolar disorder.
    JANUSZ K. RYBAKOWSKI · 2017 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
  60. Childhood Schizophrenia
    Nitin Gogtay · 2021 · Springer eBooks
  61. Genetic and Biological Influences
    David Skuse · 2011 · Wiley eBooks
  62. Faculty Opinions recommendation of Insights into genetics, human biology and disease gleaned from family based genomic studies.
    Monkol Lek, Nicole J. Lake · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
  63. Variable Expressivity of Genes
    Thomas V. Fernandez · 2021 · Springer eBooks
  64. Diagnosis and Epidemiology of Pediatric Psychiatric Disorders
    Elise Robinson, Benjamin M. Neale, Mark J. Daly · 2017 · Oxford University Press eBooks
  65. Childhood Schizophrenia
    Nitin Gogtay · 2013 · Springer eBooks
  66. Faculty Opinions recommendation of Autism spectrum disorder susceptibility gene TAOK2 affects basal dendrite formation in the neocortex.
    Geneviève Konopka · 2012 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
  67. Expression of genes in the 16p11.2 locus during human fetal cortical neurogenesis
    Sarah Morson, Yifei Yang, David Jonathan Price, Thomas Pratt · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
  68. Novel Approaches for Treating Pediatric Psychiatric Disorders
    Supritha Prasad, Edwin H. Cook · 2017 · Oxford University Press eBooks
  69. Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia
    Livia Jurisova, Roman Šolc · 2023 · Journal of Genetics
  70. Chromosome Disorders
    T. Niroshi Senaratne, Elaine H. Zackai, Sulagna C. Saitta · 2023 · Elsevier eBooks
  71. Bibliography
    2023 · The MIT Press eBooks
  72. Additional file 5 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2021 · Figshare
  73. Additional file 11 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2021 · Figshare
  74. Additional file 10 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2021 · Figshare
  75. Additional file 8 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2021 · Figshare
  76. Additional file 1 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2021 · Figshare
  77. Additional file 7 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2021 · Figshare
  78. Additional file 2 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2021 · Figshare
  79. Additional file 9 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2021 · Figshare
  80. Autonomic failure associated with 16p11.2 duplication in two siblings
    Cole Denkensohn, Glen A. Cook · 2024 · Clinical Autonomic Research
  81. Pro-cognitive reshaping of neuronal dynamics by a human CSF-based factor
    Marc Dos Santos, Marc P. Forrest, Ewa K. Bomba-Warczak, Euan Parnell, Seby Louis Edassery, Kun Yang, Lindsay N. Hayes, Jennifer Marie Coughlin, Blair L. Eckman, Catherine Rose Lammert et al. · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  82. Direct pathway bias and altered striatal neurogenesis in human iPSC models of 16p11.2 CNVs: Evidence from single-cell and functional analyses
    Marija Fjodorova, Parinda Prapaiwongs, Olena Petter, Ilaria Morella, Zongze Li, Jessica H. Hall, Ngoc‐Nga Vinh, Sara Davies, Jonathan Green, Jérémy Hall et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  83. YPEL controls synapse development through p62-Nrf2 antioxidant pathway in Drosophila neuromuscular junction
    Tianlu Wei, Ramin Lashanizadegan, Lily Liu, Monika Singh, Leanne Gayle L Mariano, Dennis Mathew, Jung Hwan Kim · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  84. JNK-regulated phosphoproteome links synaptic and metabolic pathways to mood regulation
    Ye Hong, Valentina Siino, Dani Flinkman, Prasannakumar Deshpande, Sylvia Ortega Martinez, Veronica Fagerholm, Artemis Varidaki, Pierre Heemeryck, Christel Sourander, Peter James et al. · 2025 · Neurobiology of Disease
  85. Genetics of Autism Spectrum Disorders: The Opportunity and Challenge in the Genetics Clinic
    Yi Wang, Ping Wang, Xiu Xu, Jennifer Goldstein, Allyn McConkie‐Rosell, Sau Wai Cheung, Yong‐hui Jiang · 2015 · Contemporary clinical neuroscience
  86. Additional file 1 of Rare copy-number variants as modulators of common disease susceptibility
    Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler, Nicolò Tesio, Ojavee, Sven, Charlie J. Clark, Mägi, Reedik, Alexandre Reymond, Kutalik, Zoltán · 2024 · Figshare
  87. Additional file 1 of Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders
    Glessner, Joseph T., Khan, Munir E., Chang, Xiao, Yichuan Liu, F. George Otieno, Maria Lemma, Isabella Slaby, Heather S. Hain, Mentch, Frank, Li, Jin et al. · 2023 · Figshare
  88. Additional file 1 of Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models
    Sandra Martín Lorenzo, Valérie Nalesso, Claire Chevalier, Marie‐Christine Birling, Yann Hérault · 2021 · Figshare
  89. Additional file 1 of Genome-wide association study followed by trans-ancestry meta-analysis identify 17 new risk loci for schizophrenia
    Liu, Jiewei, Shiwu Li, Li, Xiaoyan, Li, Wenqiang, Yang, Yongfeng, Guo, Suqin, Lv, Luxian, Xiao, Xiao, Yao, Yong-Gang, Guan, Fanglin et al. · 2021 · Figshare
  90. Additional file 6 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Zhong, Xue, Tyne W. Miller‐Fleming, Zhou, Dan, Nancy Jean Cox, Weiss, Lauren A. · 2021 · Figshare
  91. Additional file 12 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Zhong, Xue, Tyne W. Miller‐Fleming, Zhou, Dan, Nancy Jean Cox, Weiss, Lauren A. · 2021 · Figshare
  92. Additional file 3 of Rare copy-number variants as modulators of common disease susceptibility
    Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler, Nicolò Tesio, Ojavee, Sven, Charlie J. Clark, Mägi, Reedik, Alexandre Reymond, Kutalik, Zoltán · 2024 · Figshare
  93. Additional file 4 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Zhong, Xue, Tyne W. Miller‐Fleming, Zhou, Dan, Nancy Jean Cox, Weiss, Lauren A. · 2021 · Figshare
  94. Additional file 2 of Rare copy-number variants as modulators of common disease susceptibility
    Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler, Nicolò Tesio, Ojavee, Sven, Charlie J. Clark, Mägi, Reedik, Alexandre Reymond, Kutalik, Zoltán · 2024 · Figshare
  95. Additional file 3 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Zhong, Xue, Tyne W. Miller‐Fleming, Zhou, Dan, Nancy Jean Cox, Weiss, Lauren A. · 2021 · Figshare
  96. Identification of common variants influencing risk of the three-repeat tauopathy Pick’s disease: a genome wide association study
    William J. Scotton, Rebecca R. Valentino, Alejandro Martínez-Carrasco, Raquel Real, Hannah L. Macpherson, Nicole Tamvaka, Kin Ying Mok, Michael G. Heckman, Christopher Kobylecki, Valentina Escott‐Price et al. · 2025 · medRxiv
  97. Genetic Variants from Large Cohorts and Familial Studies Implicate Common Mechanisms in Schizophrenia
    Ambreen Kanwal, Jose V. Pardo, Sadaf Naz · 2026 · Biology
  98. L'apport de la génétique dans la nosographie en psychiatrie : l’exemple des troubles bipolaires et de la schizophrénie
    Elisa Courtois · 2020
  99. Approches génétiques et thérapeutiques visant à comprendre et atténuer les conséquences de la délétion et duplication de la région 16p11.2 dans des modèles précliniques
    Sandra Martín Lorenzo · 2019 · theses.fr (ABES)
  100. Nouvelle technique de détection simultanée des variant ponctuels et des copy number variants dans l’obésité monogénique
    Mehdi Derhourhi · 2018 · theses.fr (ABES)