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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. Reduction or differences in facial expression are a core diagnostic feature of autism spectrum disorder (ASD), yet evidence regarding the extent of this discrepancy is limited and inconsistent. Use of automate...

    Authors: Abigail Bangerter, Meenakshi Chatterjee, Joseph Manfredonia, Nikolay V. Manyakov, Seth Ness, Matthew A. Boice, Andrew Skalkin, Matthew S. Goodwin, Geraldine Dawson, Robert Hendren, Bennett Leventhal, Frederick Shic and Gahan Pandina
    Citation: Molecular Autism 2020 11:31
  13. Tuberous sclerosis complex (TSC) is an autosomal dominant disease that affects multiple organs including the brain. TSC is strongly associated with broad neurodevelopmental disorders, including autism spectrum...

    Authors: Dorinde M. van Andel, Jan J. Sprengers, Bob Oranje, Floortje E. Scheepers, Floor E. Jansen and Hilgo Bruining
    Citation: Molecular Autism 2020 11:30
  14. Mutations in TSC1 or TSC2 genes cause tuberous sclerosis complex (TSC), a disorder associated with epilepsy, autism, and intellectual disability. TSC1 and TSC2 are repressors of the mechanistic target of rapamyci...

    Authors: Nabila Haji, Ilse Riebe, Argel Aguilar-Valles, Julien Artinian, Isabel Laplante and Jean-Claude Lacaille
    Citation: Molecular Autism 2020 11:29
  15. Although there is high co-occurrence between ASD and ADHD, the nature of this co-occurrence remains unclear. Our study aimed to examine the underlying relationship between ASD and ADHD symptoms in a combined s...

    Authors: Aneta D. Krakowski, Katherine Tombeau Cost, Evdokia Anagnostou, Meng-Chuan Lai, Jennifer Crosbie, Russell Schachar, Stelios Georgiades, Eric Duku and Peter Szatmari
    Citation: Molecular Autism 2020 11:28
  16. Proteomics is the large-scale study of the total protein content and their overall function within a cell through multiple facets of research. Advancements in proteomic methods have moved past the simple quant...

    Authors: Nadeem Murtaza, Jarryll Uy and Karun K. Singh
    Citation: Molecular Autism 2020 11:27
  17. Elucidating developmental changes in the symptoms of autism spectrum disorder (ASD) is important to support individuals with ASD. However, no report has clarified the developmental changes in attention to soci...

    Authors: Toru Fujioka, Kenji J. Tsuchiya, Manabu Saito, Yoshiyuki Hirano, Muneaki Matsuo, Mitsuru Kikuchi, Yoshihiro Maegaki, Damee Choi, Sumi Kato, Tokiko Yoshida, Yuko Yoshimura, Sawako Ooba, Yoshifumi Mizuno, Shinichiro Takiguchi, Hideo Matsuzaki, Akemi Tomoda…
    Citation: Molecular Autism 2020 11:24
  18. Efforts to identify the causes of autism spectrum disorders have highlighted the importance of both genetics and environment, but the lack of human models for many of these disorders limits researchers’ attemp...

    Authors: Karina A. Kruth, Tierney M. Grisolano, Christopher A. Ahern and Aislinn J. Williams
    Citation: Molecular Autism 2020 11:23
  19. Formation and maintenance of appropriate neural networks require tight regulation of neural stem cell proliferation, differentiation, and neurogenesis. microRNAs (miRNAs) play an important role in brain develo...

    Authors: Julien Fregeac, Stéphanie Moriceau, Antoine Poli, Lam Son Nguyen, Franck Oury and Laurence Colleaux
    Citation: Molecular Autism 2020 11:22
  20. Oxytocin administration, which may be of therapeutic value for individuals with social difficulties, is likely to affect endogenous levels of other socially relevant hormones. However, to date, the effects of ...

    Authors: Tanya L. Procyshyn, Michael V. Lombardo, Meng-Chuan Lai, Bonnie Auyeung, Sarah K. Crockford, J Deakin, S. Soubramanian, A Sule, Simon Baron-Cohen and Richard A. I. Bethlehem
    Citation: Molecular Autism 2020 11:20
  21. DLG2, also known as postsynaptic density protein-93 (PSD-93) or chapsyn-110, is an excitatory postsynaptic scaffolding protein that interacts with synaptic surface receptors and signaling molecules. A recent s...

    Authors: Taesun Yoo, Sun-Gyun Kim, Soo Hyun Yang, Hyun Kim, Eunjoon Kim and Soo Young Kim
    Citation: Molecular Autism 2020 11:19
  22. Previous research using the Sensory Perception Quotient (SPQ) has reported greater sensory hypersensitivity in people with autism spectrum condition (ASC) compared to controls, consistent with other research. ...

    Authors: Emily Taylor, Rosemary Holt, Teresa Tavassoli, Chris Ashwin and Simon Baron-Cohen
    Citation: Molecular Autism 2020 11:18
  23. Autism spectrum disorder (ASD) is a neurodevelopmental condition with key deficits in social functioning. It is widely assumed that the biological underpinnings of social impairment are neurofunctional alterat...

    Authors: Carolin Moessnang, Sarah Baumeister, Julian Tillmann, David Goyard, Tony Charman, Sara Ambrosino, Simon Baron-Cohen, Christian Beckmann, Sven Bölte, Carsten Bours, Daisy Crawley, Flavio Dell’Acqua, Sarah Durston, Christine Ecker, Vincent Frouin, Hannah Hayward…
    Citation: Molecular Autism 2020 11:17
  24. Autistic individuals without intellectual disability are at heightened risk of self-injury, and appear to engage in it for similar reasons as non-autistic people. A wide divergence of autistic perspectives on ...

    Authors: R. L. Moseley, N. J. Gregory, P. Smith, C. Allison and S. Baron-Cohen
    Citation: Molecular Autism 2020 11:14
  25. Autism spectrum disorder (ASD) is a neuronal developmental disorder with impaired social interaction and communication, often with abnormal intelligence and comorbidity with epilepsy. Disturbances in synaptic ...

    Authors: Cuixia Fan, Yue Gao, Guanmei Liang, Lang Huang, Jing Wang, Xiaoxue Yang, Yiwu Shi, Ursula C. Dräger, Mei Zhong, Tian-Ming Gao and Xinping Yang
    Citation: Molecular Autism 2020 11:13
  26. Williams syndrome (WS) and autism spectrum disorder (ASD) are neurodevelopmental disorders that demonstrate overlapping genetic associations, dichotomous sociobehavioral phenotypes, and dichotomous pathologica...

    Authors: C. H. Lew, K. M. Groeniger, K. L. Hanson, D. Cuevas, D. M. Z. Greiner, B. Hrvoj-Mihic, U. Bellugi, C. M. Schumann and K. Semendeferi
    Citation: Molecular Autism 2020 11:12
  27. One of the main diagnostic features of individuals with autism spectrum disorders is nonverbal behaviour difficulties during naturalistic social interactions. The ‘Interactional Heterogeneity Hypothesis’ of AS...

    Authors: A. L. Georgescu, S. Koeroglu, A. F de C Hamilton, K. Vogeley, C. M. Falter-Wagner and W. Tschacher
    Citation: Molecular Autism 2020 11:11
  28. Autism spectrum disorders (ASD) are persistent conditions resulting from disrupted/altered neurodevelopment. ASD multifactorial etiology—and its numerous comorbid conditions—heightens the difficulty in identif...

    Authors: Federica Filice, Beat Schwaller, Tanja M. Michel and Edna Grünblatt
    Citation: Molecular Autism 2020 11:10
  29. The majority of research effort into autism has been dedicated to understanding mechanisms during early development. As a consequence, research on the broader life course of an autism spectrum condition (ASC) ...

    Authors: Joe Bathelt, P. Cédric Koolschijn and Hilde M. Geurts
    Citation: Molecular Autism 2020 11:9
  30. Self-injurious behaviours, such as head banging, hair pulling, skin picking and scratching, are common in individuals with autism. Despite high prevalence rates, there is a paucity of longitudinal research to ...

    Authors: Catherine Laverty, Chris Oliver, Jo Moss, Lisa Nelson and Caroline Richards
    Citation: Molecular Autism 2020 11:8
  31. Autism spectrum disorder (ASD) evolves from an interplay between genetic and environmental factors during prenatal development. Since identifying maternal biomarkers associated with ASD risk in offspring durin...

    Authors: Olga Egorova, Robin Myte, Jörn Schneede, Bruno Hägglöf, Sven Bölte, Erik Domellöf, Barbro Ivars A’roch, Fredrik Elgh, Per Magne Ueland and Sven-Arne Silfverdal
    Citation: Molecular Autism 2020 11:7
  32. Intranasal administration of the “prosocial” neuropeptide oxytocin is increasingly explored as a potential treatment for targeting the core characteristics of autism spectrum disorder (ASD). However, long-term...

    Authors: Sylvie Bernaerts, Bart Boets, Guy Bosmans, Jean Steyaert and Kaat Alaerts
    Citation: Molecular Autism 2020 11:6
  33. Computer vision combined with human annotation could offer a novel method for exploring facial expression (FE) dynamics in children with autism spectrum disorder (ASD).

    Authors: Charline Grossard, Arnaud Dapogny, David Cohen, Sacha Bernheim, Estelle Juillet, Fanny Hamel, Stéphanie Hun, Jérémy Bourgeois, Hugues Pellerin, Sylvie Serret, Kevin Bailly and Laurence Chaby
    Citation: Molecular Autism 2020 11:5
  34. There is increasing evidence that de novo CACNA1D missense mutations inducing increased Cav1.3 L-type Ca2+-channel-function confer a high risk for neurodevelopmental disorders (autism spectrum disorder with and w...

    Authors: Nadja T. Hofer, Petronel Tuluc, Nadine J. Ortner, Yuliia V. Nikonishyna, Monica L. Fernándes-Quintero, Klaus R. Liedl, Bernhard E. Flucher, Helen Cox and Jörg Striessnig
    Citation: Molecular Autism 2020 11:4
  35. Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder with frequent occurrence of epilepsy, autism spectrum disorder (ASD), intellectual disability (ID), and tumors in multiple organs. The aberrant...

    Authors: Pauline Martin, Vilas Wagh, Surya A. Reis, Serkan Erdin, Roberta L. Beauchamp, Ghalib Shaikh, Michael Talkowski, Elizabeth Thiele, Steven D. Sheridan, Stephen J. Haggarty and Vijaya Ramesh
    Citation: Molecular Autism 2020 11:2
  36. Females with autism spectrum disorder have been reported to exhibit fewer and less severe restricted and repetitive behaviors and interests compared to males. This difference might indicate sex-specific altera...

    Authors: Annelies van’t Westeinde, Élodie Cauvet, Roberto Toro, Ralf Kuja-Halkola, Janina Neufeld, Katell Mevel and Sven Bölte
    Citation: Molecular Autism 2019 11:1
  37. Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high co-morbidity of epilepsy and associated with hundreds of rare risk factors. NRXN1 deletion is among the commonest rare genetic factors s...

    Authors: Sahar Avazzadeh, Katya McDonagh, Jamie Reilly, Yanqin Wang, Stephanie D. Boomkamp, Veronica McInerney, Janusz Krawczyk, Jacqueline Fitzgerald, Niamh Feerick, Matthew O’Sullivan, Amirhossein Jalali, Eva B. Forman, Sally A. Lynch, Sean Ennis, Nele Cosemans, Hilde Peeters…
    Citation: Molecular Autism 2019 10:52
  38. Autism spectrum disorder (ASD) is a neurodevelopmental disorder with pronounced heritability in the general population. This is largely attributable to the effects of polygenic susceptibility, with inherited l...

    Authors: Emily M. A. Lewis, Kesavan Meganathan, Dustin Baldridge, Paul Gontarz, Bo Zhang, Azad Bonni, John N. Constantino and Kristen L. Kroll
    Citation: Molecular Autism 2019 10:51
  39. Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.33 and is characterized by intellectual disability, hypotonia, severe speech impairments, and autism spectrum ...

    Authors: Alexander Kolevzon, Elsa Delaby, Elizabeth Berry-Kravis, Joseph D. Buxbaum and Catalina Betancur
    Citation: Molecular Autism 2019 10:50
  40. Biological motion, namely the movement of others, conveys information that allows the identification of affective states and intentions. This makes it an important avenue of research in autism spectrum disorde...

    Authors: Greta Krasimirova Todorova, Rosalind Elizabeth Mcbean Hatton and Frank Earl Pollick
    Citation: Molecular Autism 2019 10:49

    The Correction to this article has been published in Molecular Autism 2021 12:58

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