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  1. Review

    Bio-collections in autism research

    Autism spectrum disorder (ASD) is a group of complex neurodevelopmental disorders with diverse clinical manifestations and symptoms. In the last 10 years, there have been significant advances in understanding ...

    Jamie Reilly, Louise Gallagher, June L. Chen, Geraldine Leader and Sanbing Shen

    Molecular Autism 2017 8:34

    Published on: 10 July 2017

  2. Research article

    Prenatal exposure to valproic acid increases miR-132 levels in the mouse embryonic brain

    MicroRNAs, small non-coding RNAs, are highly expressed in the mammalian brain, and the dysregulation of microRNA levels may be involved in neurodevelopmental disorders such as autism spectrum disorder (ASD). I...

    Yuta Hara, Yukio Ago, Erika Takano, Shigeru Hasebe, Takanobu Nakazawa, Hitoshi Hashimoto, Toshio Matsuda and Kazuhiro Takuma

    Molecular Autism 2017 8:33

    Published on: 28 June 2017

  3. Research

    Neuroanatomy in mouse models of Rett syndrome is related to the severity of Mecp2 mutation and behavioral phenotypes

    Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls. The majority of RTT cases are caused by de novo mutations in methyl-CpG-binding protein 2 (MECP2), and several mouse model...

    Rylan Allemang-Grand, Jacob Ellegood, Leigh Spencer Noakes, Julie Ruston, Monica Justice, Brian J. Nieman and Jason P. Lerch

    Molecular Autism 2017 8:32

    Published on: 26 June 2017

  4. Research

    Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10

    Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly d...

    Annisa Shui Lam Mak, Annie Ting Gee Chiu, Gordon Ka Chun Leung, Christopher Chun Yu Mak, Yoyo Wing Yiu Chu, Gary Tsz Kin Mok, Wing Fai Tang, Kelvin Yuen Kwong Chan, Mary Hoi Yin Tang, Elizabeth Tak-Kwong Lau Yim, Kin Wai So, Victoria Qinchen Tao, Cheuk Wing Fung, Virginia Chun Nei Wong, Mohammed Uddin, So Lun Lee…

    Molecular Autism 2017 8:31

    Published on: 26 June 2017

  5. Research

    The EU-AIMS Longitudinal European Autism Project (LEAP): clinical characterisation

    The EU-AIMS Longitudinal European Autism Project (LEAP) is to date the largest multi-centre, multi-disciplinary observational study on biomarkers for autism spectrum disorder (ASD). The current paper describes...

    Tony Charman, Eva Loth, Julian Tillmann, Daisy Crawley, Caroline Wooldridge, David Goyard, Jumana Ahmad, Bonnie Auyeung, Sara Ambrosino, Tobias Banaschewski, Simon Baron-Cohen, Sarah Baumeister, Christian Beckmann, Sven Bölte, Thomas Bourgeron, Carsten Bours…

    Molecular Autism 2017 8:27

    Published on: 23 June 2017

  6. Research

    Effects of a social stimulus on gene expression in a mouse model of fragile X syndrome

    People with fragile X syndrome (FXS) often have deficits in social behavior, and a substantial portion meet criteria for autism spectrum disorder. Though the genetic cause of FXS is known to be due to the sile...

    Tiffany D. Rogers, Allison M. J. Anacker, Travis M. Kerr, C. Gunnar Forsberg, Jing Wang, Bing Zhang and Jeremy Veenstra-VanderWeele

    Molecular Autism 2017 8:30

    Published on: 23 June 2017

  7. Research

    The EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders

    The tremendous clinical and aetiological diversity among individuals with autism spectrum disorder (ASD) has been a major obstacle to the development of new treatments, as many may only be effective in particu...

    Eva Loth, Tony Charman, Luke Mason, Julian Tillmann, Emily J. H. Jones, Caroline Wooldridge, Jumana Ahmad, Bonnie Auyeung, Claudia Brogna, Sara Ambrosino, Tobias Banaschewski, Simon Baron-Cohen, Sarah Baumeister, Christian Beckmann, Michael Brammer, Daniel Brandeis…

    Molecular Autism 2017 8:24

    Published on: 23 June 2017

  8. Research

    Hierarchical cortical transcriptome disorganization in autism

    Autism spectrum disorders (ASD) are etiologically heterogeneous and complex. Functional genomics work has begun to identify a diverse array of dysregulated transcriptomic programs (e.g., synaptic, immune, cell...

    Michael V. Lombardo, Eric Courchesne, Nathan E. Lewis and Tiziano Pramparo

    Molecular Autism 2017 8:29

    Published on: 21 June 2017

  9. Research

    Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism

    Autism spectrum disorder (ASD) is a clinically and biologically heterogeneous condition characterized by social, repetitive, and sensory behavioral abnormalities. No treatments are approved for the core diagno...

    Sameer C. Dhamne, Jill L. Silverman, Chloe E. Super, Stephen H. T. Lammers, Mustafa Q. Hameed, Meera E. Modi, Nycole A. Copping, Michael C. Pride, Daniel G. Smith, Alexander Rotenberg, Jacqueline N. Crawley and Mustafa Sahin

    Molecular Autism 2017 8:26

    Published on: 15 June 2017

  10. Research

    Intrainsular connectivity and somatosensory responsiveness in young children with ASD

    The human somatosensory system comprises dissociable paths for discriminative and affective touch, reflected in separate peripheral afferent populations and distinct cortical targets. Differences in behavioral...

    Michelle D. Failla, Brittany R. Peters, Haleh Karbasforoushan, Jennifer H. Foss-Feig, Kimberly B. Schauder, Brynna H. Heflin and Carissa J. Cascio

    Molecular Autism 2017 8:25

    Published on: 13 June 2017

  11. Research

    Autistic traits affect interpersonal motor coordination by modulating strategic use of role-based behavior

    Despite the fact that deficits in social communication and interaction are at the core of Autism Spectrum Conditions (ASC), no study has yet tested individuals on a continuum from neurotypical development to a...

    Arianna Curioni, Ilaria Minio-Paluello, Lucia Maria Sacheli, Matteo Candidi and Salvatore Maria Aglioti

    Molecular Autism 2017 8:23

    Published on: 9 June 2017

  12. Research

    Neural synchronization deficits linked to cortical hyper-excitability and auditory hypersensitivity in fragile X syndrome

    Studies in the fmr1 KO mouse demonstrate hyper-excitability and increased high-frequency neuronal activity in sensory cortex. These abnormalities may contribute to prominent and distressing sensory hypersensitivi...

    Lauren E. Ethridge, Stormi P. White, Matthew W. Mosconi, Jun Wang, Ernest V. Pedapati, Craig A. Erickson, Matthew J. Byerly and John A. Sweeney

    Molecular Autism 2017 8:22

    Published on: 7 June 2017

  13. Research

    A few of my favorite things: circumscribed interests in autism are not accompanied by increased attentional salience on a personalized selective attention task

    Autistic individuals commonly show circumscribed or “special” interests: areas of obsessive interest in a specific category. The present study investigated what impact these interests have on attention, an asp...

    Owen E. Parsons, Andrew P. Bayliss and Anna Remington

    Molecular Autism 2017 8:20

    Published on: 12 April 2017

  14. Research

    Neurogenetic analysis of childhood disintegrative disorder

    Childhood disintegrative disorder (CDD) is a rare form of autism spectrum disorder (ASD) of unknown etiology. It is characterized by late-onset regression leading to significant intellectual disability (ID) an...

    Abha R. Gupta, Alexander Westphal, Daniel Y. J. Yang, Catherine A. W. Sullivan, Jeffrey Eilbott, Samir Zaidi, Avery Voos, Brent C. Vander Wyk, Pam Ventola, Zainulabedin Waqar, Thomas V. Fernandez, A. Gulhan Ercan-Sencicek, Michael F. Walker, Murim Choi, Allison Schneider, Tammy Hedderly…

    Molecular Autism 2017 8:19

    Published on: 4 April 2017

  15. Research

    Shared genetic influences between dimensional ASD and ADHD symptoms during child and adolescent development

    Shared genetic influences between attention-deficit/hyperactivity disorder (ADHD) symptoms and autism spectrum disorder (ASD) symptoms have been reported. Cross-trait genetic relationships are, however, subjec...

    Evie Stergiakouli, George Davey Smith, Joanna Martin, David H. Skuse, Wolfgang Viechtbauer, Susan M. Ring, Angelica Ronald, David E. Evans, Simon E. Fisher, Anita Thapar and Beate St Pourcain

    Molecular Autism 2017 8:18

    Published on: 4 April 2017

  16. Research

    Transcriptome analysis of microglia in a mouse model of Rett syndrome: differential expression of genes associated with microglia/macrophage activation and cellular stress

    Rett syndrome (RTT) is a severe, neurodevelopmental disorder primarily affecting girls, characterized by progressive loss of cognitive, social, and motor skills after a relatively brief period of typical devel...

    Dejian Zhao, Ryan Mokhtari, Erika Pedrosa, Rayna Birnbaum, Deyou Zheng and Herbert M. Lachman

    Molecular Autism 2017 8:17

    Published on: 29 March 2017

  17. Research

    Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism

    Autism spectrum disorder (ASD) is one of the most highly heritable neuropsychiatric disorders, but underlying molecular mechanisms are still unresolved due to extreme locus heterogeneity. Leveraging meaningful...

    Rui Chen, Lea K. Davis, Stephen Guter, Qiang Wei, Suma Jacob, Melissa H. Potter, Nancy J. Cox, Edwin H. Cook, James S. Sutcliffe and Bingshan Li

    Molecular Autism 2017 8:14

    Published on: 21 March 2017

  18. Research

    CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in cerebral organoids derived from iPS cells

    CHD8 (chromodomain helicase DNA-binding protein 8), which codes for a member of the CHD family of ATP-dependent chromatin-remodeling factors, is one of the most commonly mutated genes ...

    Ping Wang, Ryan Mokhtari, Erika Pedrosa, Michael Kirschenbaum, Can Bayrak, Deyou Zheng and Herbert M. Lachman

    Molecular Autism 2017 8:11

    Published on: 20 March 2017

  19. Research

    Clinical evaluation of autistic symptoms in women with anorexia nervosa

    Despite a suggested link between anorexia nervosa (AN) and autism spectrum disorder (ASD), previous studies have used self-report or diagnostic criteria to assess for ASD in AN populations, rather than direct ...

    Heather Westwood, William Mandy and Kate Tchanturia

    Molecular Autism 2017 8:12

    Published on: 16 March 2017

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