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  1. Autism spectrum disorder (ASD) is characterized by high population-level heritability and a three-to-one male-to-female ratio that occurs independent of sex linkage. Prior research in a mixed-sex pediatric sam...

    Authors: Adam T. Eggebrecht, Ally Dworetsky, Zoë Hawks, Rebecca Coalson, Babatunde Adeyemo, Savannah Davis, Daniel Gray, Alana McMichael, Steven E. Petersen, John N. Constantino and John R. Pruett Jr
    Citation: Molecular Autism 2020 11:82
  2. Tuberous sclerosis complex (TSC) is a rare genetic multisystemic disorder resulting from autosomal dominant mutations in the TSC1 or TSC2 genes. It is characterised by hyperactivation of the mechanistic target of...

    Authors: Mouhamed Alsaqati, Vivi M. Heine and Adrian J. Harwood
    Citation: Molecular Autism 2020 11:80
  3. Diminished visual monitoring of faces and activities of others is an early feature of autism spectrum disorder (ASD). It is uncertain whether deficits in activity monitoring, identified using a homogeneous set...

    Authors: Dzmitry A. Kaliukhovich, Nikolay V. Manyakov, Abigail Bangerter, Seth Ness, Andrew Skalkin, Matthew S. Goodwin, Geraldine Dawson, Robert L. Hendren, Bennett Leventhal, Caitlin M. Hudac, Jessica Bradshaw, Frederick Shic and Gahan Pandina
    Citation: Molecular Autism 2020 11:79
  4. Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have high rates of co-occurrence and share atypical behavioral characteristics, including sensory symptoms. The present diffus...

    Authors: Haruhisa Ohta, Yuta Y. Aoki, Takashi Itahashi, Chieko Kanai, Junya Fujino, Motoaki Nakamura, Nobumasa Kato and Ryu-ichiro Hashimoto
    Citation: Molecular Autism 2020 11:77
  5. Mutations in TSC2 are the most common cause of tuberous sclerosis (TSC), a disorder with a high incidence of autism and intellectual disability. TSC2 regulates mRNA translation required for group 1 metabotropic g...

    Authors: Annie Hien, Gemma Molinaro, Botao Liu, Kimberly M. Huber and Joel D. Richter
    Citation: Molecular Autism 2020 11:78
  6. Whole-exome sequencing studies have been useful for identifying genes that, when mutated, affect risk for autism spectrum disorder (ASD). Nonetheless, the association signal primarily arises from de novo prote...

    Authors: Siwei Chen, Jiebiao Wang, Ercument Cicek, Kathryn Roeder, Haiyuan Yu and Bernie Devlin
    Citation: Molecular Autism 2020 11:76
  7. Both de novo variants and recessive inherited variants were associated with autism spectrum disorder (ASD). This study aimed to use exome data to prioritize recessive inherited genes (RIGs) with biallelically ...

    Authors: Lin Wang, Yi Zhang, Kuokuo Li, Zheng Wang, Xiaomeng Wang, Bin Li, Guihu Zhao, Zhenghuan Fang, Zhengbao Ling, Tengfei Luo, Lu Xia, Yanping Li, Hui Guo, Zhengmao Hu, Jinchen Li, Zhongsheng Sun…
    Citation: Molecular Autism 2020 11:75
  8. Chromodomain helicase DNA-binding protein 8 (Chd8) is a high-confidence risk gene for autism spectrum disorder (ASD). However, how Chd8 haploinsufficiency impairs gene expression in the brain and impacts behavior...

    Authors: Jessica A. Jiménez, Travis S. Ptacek, Alex H. Tuttle, Ralf S. Schmid, Sheryl S. Moy, Jeremy M. Simon and Mark J. Zylka
    Citation: Molecular Autism 2020 11:74

    The Correction to this article has been published in Molecular Autism 2021 12:33

  9. Impaired imitation has been found to be an important factor contributing to social communication deficits in individuals with autism spectrum disorder (ASD). It has been hypothesized that the neural correlate ...

    Authors: Melody M. Y. Chan and Yvonne M. Y. Han
    Citation: Molecular Autism 2020 11:72
  10. Recent theories have linked autism to challenges in prediction learning and social cognition. It is unknown, however, how autism affects learning about threats from others “demonstrators” through observation, ...

    Authors: Lisa Espinosa, Johan Lundin Kleberg, Björn Hofvander, Steve Berggren, Sven Bölte and Andreas Olsson
    Citation: Molecular Autism 2020 11:71
  11. Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by the loss of functional ubiquitin protein ligase E3A (UBE3A). In neurons, UBE3A expression is tightly regulated by a mechanism of imprintin...

    Authors: Monica Sonzogni, Peipei Zhai, Edwin J. Mientjes, Geeske M. van Woerden and Ype Elgersma
    Citation: Molecular Autism 2020 11:70
  12. The complex pathophysiology of autism spectrum disorder encompasses interactions between genetic and environmental factors. On the one hand, hundreds of genes, converging at the functional level on selective b...

    Authors: Cristina Cheroni, Nicolò Caporale and Giuseppe Testa
    Citation: Molecular Autism 2020 11:69
  13. Several genetic alterations, including point mutations and copy number variations in NLGN genes, have been associated with psychiatric disorders, such as autism spectrum disorder (ASD) and X-linked mental retarda...

    Authors: Takafumi Yumoto, Misaki Kimura, Ryota Nagatomo, Tsukika Sato, Shun Utsunomiya, Natsue Aoki, Motoji Kitaura, Koji Takahashi, Hiroshi Takemoto, Hirotaka Watanabe, Hideyuki Okano, Fumiaki Yoshida, Yosuke Nao and Taisuke Tomita
    Citation: Molecular Autism 2020 11:68
  14. Heterogeneity in the phenotypic presentation of autism spectrum disorder (ASD) is apparent in the profile and the severity of sensory features. Here, we applied factor mixture modelling (FMM) to test a multidi...

    Authors: J. Tillmann, M. Uljarevic, D. Crawley, G. Dumas, E. Loth, D. Murphy, J. Buitelaar and T. Charman
    Citation: Molecular Autism 2020 11:67
  15. Placebo response in autism spectrum disorder (ASD) might dilute drug-placebo differences and hinder drug development. Therefore, this meta-analysis investigated placebo response in core symptoms.

    Authors: Spyridon Siafis, Oğulcan Çıray, Johannes Schneider-Thoma, Irene Bighelli, Marc Krause, Alessandro Rodolico, Anna Ceraso, Giacomo Deste, Maximilian Huhn, David Fraguas, Dimitris Mavridis, Tony Charman, Declan G. Murphy, Mara Parellada, Celso Arango and Stefan Leucht
    Citation: Molecular Autism 2020 11:66
  16. Partial or an entire deletion of SHANK3 are considered as major drivers in the Phelan–McDermid syndrome, in which 75% of patients are diagnosed with autism spectrum disorder (ASD). During the recent years, there ...

    Authors: N. Perets, O. Oron, S. Herman, E. Elliott and D. Offen
    Citation: Molecular Autism 2020 11:65
  17. Recognising the signs of autism spectrum disorder (ASD) can be a challenge for frontline professionals. The use of brief parent-completed questionnaires for recording the signs of ASD in school-aged children m...

    Authors: Catherine R. G. Jones, Sarah L. Barrett, Ieva Bite, Maria Legzdina, Kristina Arina, Andrea Higgins, Kyla Honey, Sarah J. Carrington, Dale Hay, Johanna Condon and Susan R. Leekam
    Citation: Molecular Autism 2020 11:64
  18. The social motivational theory of autism spectrum disorder (ASD) focuses on social anhedonia as key causal feature of the impaired peer relationships that characterize ASD patients. ASD prevalence is higher in...

    Authors: Simona Scheggi, Francesca Guzzi, Giulia Braccagni, Maria Graziella De Montis, Marco Parenti and Carla Gambarana
    Citation: Molecular Autism 2020 11:62
  19. The new coronavirus disease (COVID-19) pandemic is changing how society operates. Environmental changes, disrupted routines, and reduced access to services and social networks will have a unique impact on auti...

    Authors: Stephanie H. Ameis, Meng-Chuan Lai, Benoit H. Mulsant and Peter Szatmari
    Citation: Molecular Autism 2020 11:61
  20. There is growing recognition that autistic females present with more diverse gender and sexual identities than their non-autistic counterparts. Likewise, autistic females are also at an increased risk of adver...

    Authors: Laura A. Pecora, Grace I. Hancock, Merrilyn Hooley, David H. Demmer, Tony Attwood, Gary B. Mesibov and Mark A. Stokes
    Citation: Molecular Autism 2020 11:57
  21. Auditory steady state responses (ASSRs) are elicited by clicktrains or amplitude-modulated tones, which entrain auditory cortex at their specific modulation rate. Previous research has reported reductions in A...

    Authors: R. A. Seymour, G. Rippon, G. Gooding-Williams, P. F. Sowman and K. Kessler
    Citation: Molecular Autism 2020 11:56
  22. Advanced paternal age (APA) is a risk factor for several neurodevelopmental disorders, including autism and schizophrenia. The potential mechanisms conferring this risk are poorly understood. Here, we show tha...

    Authors: Axel Krug, Markus Wöhr, Dominik Seffer, Henrike Rippberger, A. Özge Sungur, Bruno Dietsche, Frederike Stein, Sugirthan Sivalingam, Andreas J. Forstner, Stephanie H. Witt, Helene Dukal, Fabian Streit, Anna Maaser, Stefanie Heilmann-Heimbach, Till F. M. Andlauer, Stefan Herms…
    Citation: Molecular Autism 2020 11:54
  23. Phelan-McDermid syndrome (PMS) is a rare genetic disorder with high risk of autism spectrum disorder (ASD), intellectual disability, and language delay, and is caused by 22q13.3 deletions or mutations in the SHAN...

    Authors: Michael S. Breen, Andrew Browne, Gabriel E. Hoffman, Sofia Stathopoulos, Kristen Brennand, Joseph D. Buxbaum and Elodie Drapeau
    Citation: Molecular Autism 2020 11:53
  24. Fragile X syndrome (FXS), a neurodevelopmental disorder, is a leading monogenetic cause of intellectual disability and autism spectrum disorder. Notwithstanding the extensive studies using rodent and other pre...

    Authors: Shreya Das Sharma, Rakhi Pal, Bharath Kumar Reddy, Bhuvaneish T. Selvaraj, Nisha Raj, Krishna Kumar Samaga, Durga J. Srinivasan, Loren Ornelas, Dhruv Sareen, Matthew R. Livesey, Gary J. Bassell, Clive N. Svendsen, Peter C. Kind, Siddharthan Chandran, Sumantra Chattarji and David J. A. Wyllie
    Citation: Molecular Autism 2020 11:52
  25. The frequently cited Early Overgrowth Hypothesis of autism spectrum disorder (ASD) postulates that there is overgrowth of the brain in the first 2 years of life, which is followed by a period of arrested growt...

    Authors: Lisa D. Yankowitz, John D. Herrington, Benjamin E. Yerys, Joseph A. Pereira, Juhi Pandey and Robert T. Schultz
    Citation: Molecular Autism 2020 11:51
  26. Individuals with autism spectrum disorder (ASD) are characterized by social communication challenges and repetitive behaviors that may be quickly detected by experts (Autism Res 10:653–62, 2017; American Psych...

    Authors: Meredith L. Cola, Samantha Plate, Lisa Yankowitz, Victoria Petrulla, Leila Bateman, Casey J. Zampella, Ashley de Marchena, Juhi Pandey, Robert T. Schultz and Julia Parish-Morris
    Citation: Molecular Autism 2020 11:49
  27. Autistic individuals exhibit atypical patterns of sensory processing that are known to be related to quality of life, but which are also highly heterogeneous. Previous investigations of this heterogeneity have...

    Authors: Patrick Dwyer, Xiaodong Wang, Rosanna De Meo-Monteil, Fushing Hsieh, Clifford D. Saron and Susan M. Rivera
    Citation: Molecular Autism 2020 11:48
  28. In fast firing, parvalbumin (PV)-expressing (Pvalb) interneurons, PV acts as an intracellular Ca2+ signal modulator with slow-onset kinetics. In Purkinje cells of PV−/− mice, adaptive/homeostatic mechanisms lead ...

    Authors: Lucia Janickova, Karin Farah Rechberger, Lucas Wey and Beat Schwaller
    Citation: Molecular Autism 2020 11:47

    The Correction to this article has been published in Molecular Autism 2021 12:7

  29. A crucial step to understanding the mechanistic underpinnings of autism spectrum disorder (ASD), is to examine if the biological underpinnings of ASD in genetic high-risk conditions, like 22q11.2 deletion synd...

    Authors: Maria Gudbrandsen, Anke Bletsch, Caroline Mann, Eileen Daly, Clodagh M. Murphy, Vladimira Stoencheva, Charlotte E. Blackmore, Maria Rogdaki, Leila Kushan, Carrie E. Bearden, Declan G. M. Murphy, Michael C. Craig and Christine Ecker
    Citation: Molecular Autism 2020 11:46
  30. MBD5, encoding the methyl-CpG-binding domain 5 protein, has been proposed as a necessary and sufficient driver of the 2q23.1 microdeletion syndrome. De novo missense and protein-truncating variants from exome seq...

    Authors: Catarina M. Seabra, Tatsiana Aneichyk, Serkan Erdin, Derek J. C. Tai, Celine E. F. De Esch, Parisa Razaz, Yu An, Poornima Manavalan, Ashok Ragavendran, Alexei Stortchevoi, Clemer Abad, Juan I. Young, Patricia Maciel, Michael E. Talkowski and James F. Gusella
    Citation: Molecular Autism 2020 11:45
  31. PTEN, a syndromic autism spectrum disorder (ASD) risk gene, is mutated in approximately 10% of macrocephalic ASD cases. Despite the described genetic association between PTEN and ASD and ensuing studies, we conti...

    Authors: Shin Chung Kang, Ritika Jaini, Masahiro Hitomi, Hyunpil Lee, Nick Sarn, Stetson Thacker and Charis Eng
    Citation: Molecular Autism 2020 11:43
  32. Patients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype...

    Authors: Danijela Drakulic, Srdjan Djurovic, Yasir Ahmed Syed, Sebastiano Trattaro, Nicolò Caporale, Anna Falk, Rivka Ofir, Vivi M. Heine, Samuel J. R. A. Chawner, Antonio Rodriguez-Moreno, Marianne B. M. van den Bree, Giuseppe Testa, Spyros Petrakis and Adrian J. Harwood
    Citation: Molecular Autism 2020 11:42
  33. FXS is the most common genetic cause of intellectual (ID) and autism spectrum disorders (ASD). FXS is caused by loss of FMRP, an RNA-binding protein involved in the translational regulation of a large number o...

    Authors: Kagistia Hana Utami, Nur Amirah Binte Mohammad Yusof, Jing Eugene Kwa, Ulla-Kaisa Peteri, Maija L. Castrén and Mahmoud A. Pouladi
    Citation: Molecular Autism 2020 11:41
  34. Studies of individuals with autism spectrum disorder (ASD) have revealed a strong multigenic basis with the identification of hundreds of ASD susceptibility genes. ASD is characterized by social deficits and a...

    Authors: Maria Jesus Herrero, Dmitry Velmeshev, David Hernandez-Pineda, Saarthak Sethi, Shawn Sorrells, Payal Banerjee, Catherine Sullivan, Abha R. Gupta, Arnold R. Kriegstein and Joshua G. Corbin
    Citation: Molecular Autism 2020 11:39
  35. Rett syndrome (RTT) is a progressive neurodevelopmental disease that is characterized by abnormalities in cognitive, social, and motor skills. RTT is often caused by mutations in the X-linked gene encoding met...

    Authors: Suzy Varderidou-Minasian, Lisa Hinz, Dominique Hagemans, Danielle Posthuma, Maarten Altelaar and Vivi M. Heine
    Citation: Molecular Autism 2020 11:38
  36. Autism spectrum condition (ASC) is accompanied by developmental differences in brain anatomy and connectivity. White matter differences in ASC have been widely studied with diffusion imaging but results are he...

    Authors: Abigail Thompson, Asal Shahidiani, Anne Fritz, Jonathan O’Muircheartaigh, Lindsay Walker, Vera D’Almeida, Clodagh Murphy, Eileen Daly, Declan Murphy, Steve Williams, Sean Deoni and Christine Ecker
    Citation: Molecular Autism 2020 11:36
  37. Whether there is a true increase in autism spectrum disorder (ASD) frequency or not remains unclear. Additionally, the rates of co-existing neurodevelopmental disorders (NDD) in a total population sample has n...

    Authors: Manabu Saito, Tomoya Hirota, Yui Sakamoto, Masaki Adachi, Michio Takahashi, Ayako Osato-Kaneda, Young Shin Kim, Bennett Leventhal, Amy Shui, Sumi Kato and Kazuhiko Nakamura
    Citation: Molecular Autism 2020 11:35
  38. Youth with autism spectrum disorder (ASD) experience high rates (approximately 50–79%) of comorbid anxiety problems. Given the significant interference and distress that excessive anxiety can cause, evidence-b...

    Authors: Abbie Solish, Nora Klemencic, Anne Ritzema, Vicki Nolan, Martha Pilkington, Evdokia Anagnostou and Jessica Brian
    Citation: Molecular Autism 2020 11:34
  39. Genetic factors contribute to the development of autism spectrum disorder (ASD), and although non-protein-coding regions of the genome are being increasingly implicated in ASD, the functional consequences of t...

    Authors: P. Joel Ross, Rebecca S. F. Mok, Brandon S. Smith, Deivid C. Rodrigues, Marat Mufteev, Stephen W. Scherer and James Ellis
    Citation: Molecular Autism 2020 11:33

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