jueves, 1 de agosto de 2019

Disease neurogenomics

Disease neurogenomics



Disease Neurogenomics

Guest editors: Joseph Buxbaum and Catalina Betancur

Disease NeurogenomicsGenome Medicine is pleased to present a special issue on Disease Neurogenomics. The issue captures the advances made in understanding the impact of genetic and genomic variation on neuronal function, networks and the transition to dysregulation, with a special focus on neurodevelopmental, neuropsychiatric and neurodegenerative diseases.
This collection of articles has not been sponsored and articles have undergone the journal’s standard peer-review process. The Guest editors declare that they have no competing interests.
  1. Content Type:Research

    Studies have shown that low haemoglobin and anaemia are associated with poor cognition, and anaemia is known to be associated with Alzheimer’s disease (AD), but the mechanism of this risk is unknown. Here, we ...
    Authors:Laura M. Winchester, John Powell, Simon Lovestone and Alejo J. Nevado-Holgado
    Citation:Genome Medicine 2018 10:51
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  2. Content Type:Research

    Cerebral amyloidosis, neuroinflammation, and tauopathy are key features of Alzheimer’s disease (AD), but interactions among these features remain poorly understood. Our previous multiscale molecular network mo...
    Authors:Michiko Sekiya, Minghui Wang, Naoki Fujisaki, Yasufumi Sakakibara, Xiuming Quan, Michelle E. Ehrlich, Philip L. De Jager, David A. Bennett, Eric E. Schadt, Sam Gandy, Kanae Ando, Bin Zhang and Koichi M. Iijima
    Citation:Genome Medicine 2018 10:26
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  3. Content Type:Research

    Autism spectrum disorder (ASD) is a severe neurodevelopmental disorder characterized by deficits in social communication and restricted, repetitive behaviors, interests, or activities. The etiology of ASD invo...
    Authors:Eilis Hannon, Diana Schendel, Christine Ladd-Acosta, Jakob Grove, Christine Søholm Hansen, Shan V. Andrews, David Michael Hougaard, Michaeline Bresnahan, Ole Mors, Mads Vilhelm Hollegaard, Marie Bækvad-Hansen, Mady Hornig, Preben Bo Mortensen, Anders D. Børglum, Thomas Werge, Marianne Giørtz Pedersen…
    Citation:Genome Medicine 2018 10:19
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  5. Content Type:Research

    Genome-wide association studies of Alzheimer’s disease (AD) have identified a number of significant risk loci, the majority of which lie in non-coding regions of the genome. The lack of causal alleles and cons...
    Authors:Katherine E. Tansey, Darren Cameron and Matthew J. Hill
    Citation:Genome Medicine 2018 10:14
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  6. Content Type:Research

    One of the major challenges in current psychiatric epigenetic studies is the tissue specificity of epigenetic changes since access to brain samples is limited. Peripheral tissues have been studied as surrogate...
    Authors:Dongdong Lin, Jiayu Chen, Nora Perrone-Bizzozero, Juan R. Bustillo, Yuhui Du, Vince D. Calhoun and Jingyu Liu
    Citation:Genome Medicine 2018 10:13
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  10. Content Type:Research

    The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-ey...
    Authors:Reza Maroofian, Moniek Riemersma, Lucas T. Jae, Narges Zhianabed, Marjolein H. Willemsen, Willemijn M. Wissink-Lindhout, Michèl A. Willemsen, Arjan P. M. de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R. Brummelkamp…
    Citation:Genome Medicine 2017 9:118
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  11. Content Type:Research

    Integrating rare variation from trio family and case–control studies has successfully implicated specific genes contributing to risk of neurodevelopmental disorders (NDDs) including autism spectrum disorders (...
    Authors:Hoang T. Nguyen, Julien Bryois, April Kim, Amanda Dobbyn, Laura M. Huckins, Ana B. Munoz-Manchado, Douglas M. Ruderfer, Giulio Genovese, Menachem Fromer, Xinyi Xu, Dalila Pinto, Sten Linnarsson, Matthijs Verhage, August B. Smit, Jens Hjerling-Leffler, Joseph D. Buxbaum…
    Citation:Genome Medicine 2017 9:114
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  12. Content Type:Research Highlight

    Distinct neurodevelopmental disorders have a common genetic etiology that explains the high degree of comorbidity among these disorders. A recent study sought to identify copy number variants across five neuro...
    Authors:Matthew Jensen and Santhosh Girirajan
    Citation:Genome Medicine 2017 9:109
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    The Research to this article has been published in Genome Medicine 2017 9:106
  13. Content Type:Research

    Neurodevelopmental and neuropsychiatric disorders represent a wide spectrum of heterogeneous yet inter-related disease conditions. The overlapping clinical presentations of these diseases suggest a shared gene...
    Authors:Joseph T. Glessner, Jin Li, Dai Wang, Michael March, Leandro Lima, Akshatha Desai, Dexter Hadley, Charlly Kao, Raquel E. Gur, Nadine Cohen, Patrick M. A. Sleiman, Qingqin Li and Hakon Hakonarson
    Citation:Genome Medicine 2017 9:106
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    The Research Highlight to this article has been published in Genome Medicine 2017 9:109
  14. Content Type:Research

    Schizophrenia is a severe psychiatric disorder associated with IQ deficits. Rare copy number variations (CNVs) have been established to play an important role in the etiology of schizophrenia. Several of the l...
    Authors:Chelsea Lowther, Daniele Merico, Gregory Costain, Jack Waserman, Kerry Boyd, Abdul Noor, Marsha Speevak, Dimitri J. Stavropoulos, John Wei, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer and Anne S. Bassett
    Citation:Genome Medicine 2017 9:105
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  15. Content Type:Research

    While age and the APOE ε4 allele are major risk factors for Alzheimer’s disease (AD), a small percentage of individuals with these risk factors exhibit AD resilience by living well beyond 75 years of age without ...
    Authors:Perry G. Ridge, Celeste M. Karch, Simon Hsu, Ivan Arano, Craig C. Teerlink, Mark T. W. Ebbert, Josue D. Gonzalez Murcia, James M. Farnham, Anna R. Damato, Mariet Allen, Xue Wang, Oscar Harari, Victoria M. Fernandez, Rita Guerreiro, Jose Bras, John Hardy…
    Citation:Genome Medicine 2017 9:100
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    The Correction to this article has been published in Genome Medicine 2018 10:4
  16. Content Type:Review

    Neuroimaging genomics is a relatively new field focused on integrating genomic and imaging data in order to investigate the mechanisms underlying brain phenotypes and neuropsychiatric disorders. While early wo...
    Authors:Mary S. Mufford, Dan J. Stein, Shareefa Dalvie, Nynke A. Groenewold, Paul M. Thompson and Neda Jahanshad
    Citation:Genome Medicine 2017 9:102
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  17. Content Type:Review

    Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has rapidly advanced over the past f...
    Authors:Amy B. Wilfert, Arvis Sulovari, Tychele N. Turner, Bradley P. Coe and Evan E. Eichler
    Citation:Genome Medicine 2017 9:101
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  18. Content Type:Research

    The nature and underlying mechanisms of the observed increased vulnerability to posttraumatic stress disorder (PTSD) in women are unclear.
    Authors:Renato Polimanti, Ananda B. Amstadter, Murray B. Stein, Lynn M. Almli, Dewleen G. Baker, Laura J. Bierut, Bekh Bradley, Lindsay A. Farrer, Eric O. Johnson, Anthony King, Henry R. Kranzler, Adam X. Maihofer, John P. Rice, Andrea L. Roberts, Nancy L. Saccone, Hongyu Zhao…
    Citation:Genome Medicine 2017 9:99
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  19. Content Type:Research

    Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease characterised by the degeneration of motor neurons, which are responsible for voluntary movement. There remains limited understanding o...
    Authors:Jacob Gratten, Qiongyi Zhao, Beben Benyamin, Fleur Garton, Ji He, Paul J. Leo, Marie Mangelsdorf, Lisa Anderson, Zong-Hong Zhang, Lu Chen, Xiang-Ding Chen, Katie Cremin, Hong-Weng Deng, Janette Edson, Ying-Ying Han, Jessica Harris…
    Citation:Genome Medicine 2017 9:97
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  20. Content Type:Comment

    Genome-wide association studies have made strides in identifying common variation associated with disease. The modest effect sizes preclude risk prediction based on single genetic variants, but polygenic risk ...
    Authors:Cathryn M. Lewis and Evangelos Vassos
    Citation:Genome Medicine 2017 9:96
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