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  1. Content type: Research

    PHF21A has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11.2 and its disruption in three patients with balanced transl...

    Authors: Hyung-Goo Kim, Jill A. Rosenfeld, Daryl A. Scott, Gerard Bénédicte, Jonathan D. Labonne, Jason Brown, Marianne McGuire, Sonal Mahida, Sakkubai Naidu, Jacqueline Gutierrez, Gaetan Lesca, Vincent des Portes, Ange-Line Bruel, Arthur Sorlin, Fan Xia, Yline Capri…

    Citation: Molecular Autism 2019 10:35

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  2. Content type: Research

    Abnormal auditory neuromagnetic M50 and M100 responses, reflecting primary/secondary auditory cortex processing, have been reported in children who have autism spectrum disorder (ASD). Some studies have report...

    Authors: Timothy P. L. Roberts, Junko Matsuzaki, Lisa Blaskey, Luke Bloy, J. Christopher Edgar, Mina Kim, Matthew Ku, Emily S. Kuschner and David Embick

    Citation: Molecular Autism 2019 10:34

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  3. Content type: Research

    Neurogenetics investigations and diagnostic yield in patients with autism spectrum disorder (ASD) have significantly improved over the last few years. Yet, many patients still fail to be systematically investi...

    Authors: Arnold Munnich, Caroline Demily, Lisa Frugère, Charlyne Duwime, Valérie Malan, Giulia Barcia, Céline Vidal, Emeline Throo, Claude Besmond, Laurence Hubert, Gilles Roland-Manuel, Jean-Pierre Malen, Mélanie Ferreri, Sylvain Hanein, Jean-Christophe Thalabard, Nathalie Boddaert…

    Citation: Molecular Autism 2019 10:33

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  4. Content type: Research

    Lower gestational age may increase autism spectrum disorder (ASD) vulnerability; however, the incidence of ASD diagnosis through a direct assessment on every very preterm birth child on the population base rem...

    Authors: Li-Wen Chen, Shan-Tair Wang, Lan-Wan Wang, Yu-Chia Kao, Ching-Lin Chu, Chin-Chin Wu, Yi-Ting Hsieh, Chung-Hsin Chiang and Chao-Ching Huang

    Citation: Molecular Autism 2019 10:32

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  5. Content type: Research

    Previous studies have identified differences in DNA methylation in autistic individuals compared to neurotypical individuals. Yet, it is unclear if this extends to autistic traits—subclinical manifestation of ...

    Authors: Aicha Massrali, Helena Brunel, Eilis Hannon, Chloe Wong, Simon Baron-Cohen and Varun Warrier

    Citation: Molecular Autism 2019 10:31

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  6. Content type: Research

    The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20 to 40-fold increased risk for schizophrenia. Howe...

    Authors: Rebecca M. Pollak, Melissa M. Murphy, Michael P. Epstein, Michael E. Zwick, Cheryl Klaiman, Celine A. Saulnier and Jennifer G. Mulle

    Citation: Molecular Autism 2019 10:30

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  7. Content type: Research

    Duplications of 15q11.2-q13.1 (Dup15q syndrome), including the paternally imprinted gene UBE3A and three nonimprinted gamma-aminobutyric acid type-A (GABAA) receptor genes, are highly penetrant for neurodevelopme...

    Authors: Joel Frohlich, Lawrence T. Reiter, Vidya Saravanapandian, Charlotte DiStefano, Scott Huberty, Carly Hyde, Stormy Chamberlain, Carrie E. Bearden, Peyman Golshani, Andrei Irimia, Richard W. Olsen, Joerg F. Hipp and Shafali S. Jeste

    Citation: Molecular Autism 2019 10:29

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  8. Content type: Research

    The male bias in autism spectrum disorder (ASD) diagnoses is well documented. As a result, less is known about the female ASD phenotype. Recent research suggests that conclusions drawn from predominantly male ...

    Authors: Clare Harrop, Desiree Jones, Shuting Zheng, Sallie Nowell, Robert Schultz and Julia Parish-Morris

    Citation: Molecular Autism 2019 10:28

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  9. Content type: Research

    Autism is hypothesized to represent a disorder of brain connectivity, yet patterns of atypical functional connectivity show marked heterogeneity across individuals.

    Authors: Jace B. King, Molly B. D. Prigge, Carolyn K. King, Jubel Morgan, Fiona Weathersby, J. Chancellor Fox, Douglas C. Dean III, Abigail Freeman, Joaquin Alfonso M. Villaruz, Karen L. Kane, Erin D. Bigler, Andrew L. Alexander, Nicholas Lange, Brandon Zielinski, Janet E. Lainhart and Jeffrey S. Anderson

    Citation: Molecular Autism 2019 10:27

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  10. Content type: Research

    An emerging literature suggests that autistic adults are at increased risk of experiencing suicidal thoughts, making suicidal plans and attempts, and dying by suicide. However, few studies have investigated wh...

    Authors: Gareth Richards, Rebecca Kenny, Sarah Griffiths, Carrie Allison, David Mosse, Rosemary Holt, Rory C. O’Connor, Sarah Cassidy and Simon Baron-Cohen

    Citation: Molecular Autism 2019 10:26

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  11. Content type: Research

    CYFIP1, a protein that interacts with FMRP and regulates protein synthesis and actin dynamics, is overexpressed in Dup15q syndrome as well as autism spectrum disorder (ASD). While CYFIP1 heterozygosity has been r...

    Authors: Catherine Fricano-Kugler, Aaron Gordon, Grace Shin, Kun Gao, Jade Nguyen, Jamee Berg, Mary Starks and Daniel H. Geschwind

    Citation: Molecular Autism 2019 10:25

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  12. Content type: Methodology

    A considerable amount of research has discussed whether autism and psychiatric/neurodevelopmental conditions in general are best described categorically or dimensionally. In recent years, finite mixture models...

    Authors: Ahmad Abu-Akel, Carrie Allison, Simon Baron-Cohen and Dietmar Heinke

    Citation: Molecular Autism 2019 10:24

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  13. Content type: Short report

    Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutations affecting UBE3A gene expression. Previous studies in mice revealed distinct critical periods during neurodevelopment in which rea...

    Authors: Monica Sonzogni, Johanna Hakonen, Mireia Bernabé Kleijn, Sara Silva-Santos, Matthew C. Judson, Benjamin D. Philpot, Geeske M. van Woerden and Ype Elgersma

    Citation: Molecular Autism 2019 10:23

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  14. Content type: Research

    Autism spectrum disorders (ASD) are characterized by abnormal neurodevelopment, genetic, and environmental risk factors, as well as immune dysfunctions. Several lines of evidence suggest alterations in innate ...

    Authors: Meriem Bennabi, Nadine Tarantino, Alexandru Gaman, Isabelle Scheid, Rajagopal Krishnamoorthy, Patrice Debré, Arthur Bouleau, Mireille Caralp, Sonia Gueguen, Myriam Ly Le-Moal, Manuel Bouvard, Anouck Amestoy, Richard Delorme, Marion Leboyer, Ryad Tamouza and Vincent Vieillard

    Citation: Molecular Autism 2019 10:22

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  15. Content type: Research

    Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, includi...

    Authors: Emma K. Baker, Marta Arpone, Solange M. Aliaga, Lesley Bretherton, Claudine M. Kraan, Minh Bui, Howard R. Slater, Ling Ling, David Francis, Matthew F. Hunter, Justine Elliott, Carolyn Rogers, Michael Field, Jonathan Cohen, Kim Cornish, Lorena Santa Maria…

    Citation: Molecular Autism 2019 10:21

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  16. Content type: Research

    Recent studies indicate increased autistic traits in musicians with absolute pitch and a higher proportion of absolute pitch in people with autism. Theoretical accounts connect both of these with shared neural...

    Authors: T. Wenhart, R. A. I. Bethlehem, S. Baron-Cohen and E. Altenmüller

    Citation: Molecular Autism 2019 10:20

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  17. Content type: Research

    Autism spectrum disorders (ASD) affect around 1.5% of people worldwide. Symptoms start around age 2, when children fail to maintain eye contact and to develop speech and other forms of communication. Disturban...

    Authors: Elisa Maria Guimarães-Souza, Christina Joselevitch, Luiz Roberto G. Britto and Silvana Chiavegatto

    Citation: Molecular Autism 2019 10:19

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  18. Content type: Research

    Non-suicidal self-injury (NSSI) describes a phenomenon where individuals inflict deliberate pain and tissue damage to their bodies. Self-injurious behaviour is especially prevalent across the autism spectrum, ...

    Authors: R. L. Moseley, N. J. Gregory, P. Smith, C. Allison and S. Baron-Cohen

    Citation: Molecular Autism 2019 10:18

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  19. Content type: Research

    Epidemiological and clinical evidence points to cancer as a comorbidity in people with autism spectrum disorders (ASD). A significant overlap of genes and biological processes between both diseases has also be...

    Authors: Jaume Forés-Martos, Ferrán Catalá-López, Jon Sánchez-Valle, Kristina Ibáñez, Héctor Tejero, Helena Palma-Gudiel, Joan Climent, Vera Pancaldi, Lourdes Fañanás, Celso Arango, Mara Parellada, Anaïs Baudot, Daniel Vogt, John L. Rubenstein, Alfonso Valencia and Rafael Tabarés-Seisdedos

    Citation: Molecular Autism 2019 10:17

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  20. Content type: Research

    Increasing attention is being paid to the higher prevalence of boys with Autism Spectrum Disorder (ASD) and to the implications of this ratio discrepancy on our understanding of autism in girls. One recent ave...

    Authors: Philippine Geelhand, Philippe Bernard, Olivier Klein, Bob van Tiel and Mikhail Kissine

    Citation: Molecular Autism 2019 10:16

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  21. Content type: Research

    Mutations of the SCN2A gene encoding a voltage-gated sodium channel alpha-II subunit Nav1.2 are associated with neurological disorders such as epilepsy, autism spectrum disorders, intellectual disability, and sch...

    Authors: Tetsuya Tatsukawa, Matthieu Raveau, Ikuo Ogiwara, Satoko Hattori, Hiroyuki Miyamoto, Emi Mazaki, Shigeyoshi Itohara, Tsuyoshi Miyakawa, Mauricio Montal and Kazuhiro Yamakawa

    Citation: Molecular Autism 2019 10:15

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  22. Content type: Research

    Narrative abilities are linked to social impairment in autism spectrum disorder (ASD), such that reductions in words about cognitive processes (e.g., think, know) are thought to reflect underlying deficits in soc...

    Authors: Jaclin Boorse, Meredith Cola, Samantha Plate, Lisa Yankowitz, Juhi Pandey, Robert T. Schultz and Julia Parish-Morris

    Citation: Molecular Autism 2019 10:14

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  23. Content type: Research

    Autism spectrum disorder (ASD) is characterised by persisting difficulties in everyday functioning. Adaptive behaviour is heterogeneous across individuals with ASD, and it is not clear to what extent early dev...

    Authors: Giorgia Bussu, Emily J. H. Jones, Tony Charman, Mark H. Johnson and Jan K. Buitelaar

    Citation: Molecular Autism 2019 10:13

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  24. Content type: Research

    Autism is a highly varied and heritable neurodevelopmental condition, and common variants explain approximately 50% of the genetic variance of autism. One of the genes implicated in autism is the oxytocin rece...

    Authors: Florina Uzefovsky, Richard A. I. Bethlehem, Simone Shamay-Tsoory, Amber Ruigrok, Rosemary Holt, Michael Spencer, Lindsay Chura, Varun Warrier, Bhismadev Chakrabarti, Ed Bullmore, John Suckling, Dorothea Floris and Simon Baron-Cohen

    Citation: Molecular Autism 2019 10:12

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  25. Content type: Research

    The core features of autism spectrum disorder (ASD) are easily recognizable in non-structured clinical and real-life situations. The features are often difficult to capture in structured laboratory settings, a...

    Authors: Anne L. Høyland, Terje Nærland, Morten Engstrøm, Tonje Torske, Stian Lydersen and Ole A. Andreassen

    Citation: Molecular Autism 2019 10:10

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  26. Content type: Review

    Current global estimates suggest the proportion of the population with autism spectrum disorder (ASD) who have intellectual disability (ID) is approximately 50%. Our objective was to ascertain the existence of...

    Authors: Ginny Russell, William Mandy, Daisy Elliott, Rhianna White, Tom Pittwood and Tamsin Ford

    Citation: Molecular Autism 2019 10:9

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  27. Content type: Research

    Of the many genetic mutations known to increase the risk of autism spectrum disorder, a large proportion cluster upon synaptic proteins. One such family of presynaptic proteins are the neurexins (NRXN), and re...

    Authors: Eleftheria Pervolaraki, Adam L. Tyson, Francesca Pibiri, Steven L. Poulter, Amy C. Reichelt, R. John Rodgers, Steven J. Clapcote, Colin Lever, Laura C. Andreae and James Dachtler

    Citation: Molecular Autism 2019 10:8

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  28. Content type: Research

    Autism prevalence in the West is approximately 1% of school age children. Autism prevalence in China has been reported to be lower than in the West. This is likely due to at least two reasons: (1) most studies...

    Authors: Xiang Sun, Carrie Allison, Liping Wei, Fiona E. Matthews, Bonnie Auyeung, Yu Yu Wu, Sian Griffiths, Jie Zhang, Simon Baron-Cohen and Carol Brayne

    Citation: Molecular Autism 2019 10:7

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  29. Content type: Research

    Autism spectrum disorders (ASD) exhibit two clusters of core symptoms, i.e., social and communication impairment, and repetitive behaviors and sensory abnormalities. Our previous study demonstrated that TBR1, ...

    Authors: Tzyy-Nan Huang, Tzu-Li Yen, Lily R. Qiu, Hsiu-Chun Chuang, Jason P. Lerch and Yi-Ping Hsueh

    Citation: Molecular Autism 2019 10:5

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  30. Content type: Research

    Sensory processing difficulties are common across neurodevelopmental disorders. Thus, reliable measures are needed to understand the biological underpinnings of these differences. This study aimed to define a ...

    Authors: Teresa Tavassoli, Anne Brandes-Aitken, Robyn Chu, Lisa Porter, Sarah Schoen, Lucy Jane Miller, Molly Rae Gerdes, Julia Owen, Pratik Mukherjee and Elysa J. Marco

    Citation: Molecular Autism 2019 10:4

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  31. Content type: Research

    Autism spectrum disorder (ASD) is currently estimated to affect more than 1% of the world population. For people with ASD, gastrointestinal (GI) distress is a commonly reported but a poorly understood co-occur...

    Authors: David M. James, Robert A. Kozol, Yuji Kajiwara, Adam L. Wahl, Emily C. Storrs, Joseph D. Buxbaum, Mason Klein, Baharak Moshiree and Julia E. Dallman

    Citation: Molecular Autism 2019 10:3

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  32. Content type: Research

    The endocannabinoid system (ECS) is a major regulator of synaptic plasticity and neuromodulation. Alterations of the ECS have been demonstrated in several animal models of autism spectrum disorder (ASD). In so...

    Authors: Adi Aran, Maya Eylon, Moria Harel, Lola Polianski, Alina Nemirovski, Sigal Tepper, Aviad Schnapp, Hanoch Cassuto, Nadia Wattad and Joseph Tam

    Citation: Molecular Autism 2019 10:2

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  33. Content type: Research

    Evidence has indicated that some non-inherited factors such as exposure to environmental pollutants are associated with neurodevelopment disorders like autism spectrum disorder (ASD). Studies report that endoc...

    Authors: Manhai Long, Mandana Ghisari, Lisbeth Kjeldsen, Maria Wielsøe, Bent Nørgaard-Pedersen, Erik Lykke Mortensen, Morsi W. Abdallah and Eva C. Bonefeld-Jørgensen

    Citation: Molecular Autism 2019 10:1

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  34. Content type: Research

    Functional neuroimaging research in autism spectrum disorder has reported patterns of decreased long-range, within-network, and interhemispheric connectivity. Research has also reported increased corticostriat...

    Authors: Terisa P. Gabrielsen, Jeff S. Anderson, Kevin G. Stephenson, Jonathan Beck, Jace B. King, Ryan Kellems, David N. Top Jr, Nicholas C. C. Russell, Emily Anderberg, Rebecca A. Lundwall, Blake Hansen and Mikle South

    Citation: Molecular Autism 2018 9:67

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  35. Content type: Research

    Neuroglial cells that provide homeostatic support and form defence of the nervous system contribute to all neurological disorders. We analyzed three major types of neuroglia, astrocytes, oligodendrocytes, and ...

    Authors: Maria Rosanna Bronzuoli, Roberta Facchinetti, Davide Ingrassia, Michela Sarvadio, Sara Schiavi, Luca Steardo, Alexei Verkhratsky, Viviana Trezza and Caterina Scuderi

    Citation: Molecular Autism 2018 9:66

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  36. Content type: Research

    Mutations in CHD8, chromodomain helicase DNA-binding protein 8, are among the most replicated and common findings in genetic studies of autism spectrum disorder (ASD). The CHD8 protein is believed to act as a tra...

    Authors: Qiong Xu, Yuan-yuan Liu, Xiaoming Wang, Guo-he Tan, Hui-ping Li, Samuel W. Hulbert, Chun-yang Li, Chun-chun Hu, Zhi-qi Xiong, Xiu Xu and Yong-hui Jiang

    Citation: Molecular Autism 2018 9:65

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  37. Content type: Research

    We previously performed targeted sequencing of autism risk genes in probands from the Autism Clinical and Genetic Resources in China (ACGC) (phase I). Here, we expand this analysis to a larger cohort of patien...

    Authors: Hui Guo, Tianyun Wang, Huidan Wu, Min Long, Bradley P. Coe, Honghui Li, Guanglei Xun, Jianjun Ou, Biyuan Chen, Guiqin Duan, Ting Bai, Ningxia Zhao, Yidong Shen, Yun Li, Yazhe Wang, Yu Zhang…

    Citation: Molecular Autism 2018 9:64

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  38. Content type: Research

    Animal models for neurodevelopmental disorders (NDD) generally rely on a single genetic mutation on a fixed genetic background. Recent human genetic studies however indicate that a clinical diagnosis with Auti...

    Authors: Remco T. Molenhuis, Hilgo Bruining, Myrna J. V. Brandt, Petra E. van Soldt, Hanifa J. Abu-Toamih Atamni, J. Peter H. Burbach, Fuad A. Iraqi, Richard F. Mott and Martien J. H. Kas

    Citation: Molecular Autism 2018 9:63

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  39. Content type: Research

    The corpus callosum is implicated in the pathophysiology of autism spectrum disorder (ASD). However, specific structural deficits and underlying mechanisms are yet to be well defined.

    Authors: Yu Veronica Sui, Jeffrey Donaldson, Laura Miles, James S. Babb, Francisco Xavier Castellanos and Mariana Lazar

    Citation: Molecular Autism 2018 9:62

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  40. Content type: Research

    Gut microbiota has the capacity to impact the regular function of the brain, which can in turn affect the composition of microbiota. Autism spectrum disorder (ASD) patients suffer from gastrointestinal problem...

    Authors: Fang Liu, Kayla Horton-Sparks, Vanessa Hull, Robert W. Li and Verónica Martínez-Cerdeño

    Citation: Molecular Autism 2018 9:61

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  41. Content type: Research

    Hyperserotonemia in the brain is suspected to be an endophenotype of autism spectrum disorder (ASD). Reducing serotonin levels in the brain through modulation of serotonin transporter function may improve ASD ...

    Authors: Miho Tanaka, Atsushi Sato, Shinya Kasai, Yoko Hagino, Hiroko Kotajima-Murakami, Hirofumi Kashii, Yukio Takamatsu, Yasumasa Nishito, Masumi Inagaki, Masashi Mizuguchi, F. Scott Hall, George R. Uhl, Dennis Murphy, Ichiro Sora and Kazutaka Ikeda

    Citation: Molecular Autism 2018 9:60

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  42. Content type: Research

    Pioglitazone is a promising compound for treatment of core autism spectrum disorder (ASD) symptoms as it targets multiple relevant pathways, including immune system alterations.

    Authors: Lucia Capano, Annie Dupuis, Jessica Brian, Deepali Mankad, Lisa Genore, Rianne Hastie Adams, Sharon Smile, Toni Lui, Dina Odrobina, Jane A. Foster and Evdokia Anagnostou

    Citation: Molecular Autism 2018 9:59

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  43. Content type: Short report

    The majority of previous research into restricted and repetitive behaviours (RRBs) has focussed on children, partly due to a lack of suitable measures for RRBs in adults. This study aimed to explore the psycho...

    Authors: Sarah L. Barrett, Mirko Uljarević, Catherine R. G. Jones and Susan R. Leekam

    Citation: Molecular Autism 2018 9:58

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  44. Content type: Research

    Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by three core symptoms that include social interaction deficits, cognitive inflexibility, and communication disorders. They have b...

    Authors: Nisim Perets, Stav Hertz, Michael London and Daniel Offen

    Citation: Molecular Autism 2018 9:57

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  45. Content type: Research

    Altered neuronal development is discussed as the underlying pathogenic mechanism of autism spectrum disorders (ASD). Copy number variations of 16p11.2 have recurrently been identified in individuals with ASD. ...

    Authors: Denise Haslinger, Regina Waltes, Afsheen Yousaf, Silvia Lindlar, Ines Schneider, Chai K. Lim, Meng-Miao Tsai, Boyan K. Garvalov, Amparo Acker-Palmer, Nicolas Krezdorn, Björn Rotter, Till Acker, Gilles J. Guillemin, Simone Fulda, Christine M. Freitag and Andreas G. Chiocchetti

    Citation: Molecular Autism 2018 9:56

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  46. Content type: Research

    There is a global need for brief screening instruments that can identify key indicators for autism to support frontline professionals in their referral decision-making. Although a universal set of conditions, ...

    Authors: Sophie Carruthers, Emma Kinnaird, Alokananda Rudra, Paula Smith, Carrie Allison, Bonnie Auyeung, Bhismadev Chakrabarti, Akio Wakabayashi, Simon Baron-Cohen, Ioannis Bakolis and Rosa A Hoekstra

    Citation: Molecular Autism 2018 9:52

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  47. Content type: Research

    Loss of UBE3A causes Angelman syndrome, whereas excess UBE3A activity appears to increase the risk for autism. Despite this powerful association with neurodevelopmental disorders, there is still much to be lea...

    Authors: Alain C. Burette, Matthew C. Judson, Alissa N. Li, Edward F. Chang, William W. Seeley, Benjamin D. Philpot and Richard J. Weinberg

    Citation: Molecular Autism 2018 9:54

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