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  1. Whole-exome sequencing studies in autism spectrum disorder (ASD) have identified de novo mutations in novel candidate genes, including the synaptic gene Eighty-five Requiring 3A (EFR3A). EFR3A is a critical compo...

    Authors: Abha R Gupta, Michelle Pirruccello, Feng Cheng, Hyo Jung Kang, Thomas V Fernandez, Jeremy M Baskin, Murim Choi, Li Liu, Adife Gulhan Ercan-Sencicek, John D Murdoch, Lambertus Klei, Benjamin M Neale, Daniel Franjic, Mark J Daly, Richard P Lifton, Pietro De Camilli…
    Citation: Molecular Autism 2014 5:31
    Content type: Research Published on:

  2. Considerable clinical heterogeneity has been well documented amongst individuals with autism spectrum disorders (ASD). However, little is known about the biological mechanisms underlying phenotypic diversity. ...

    Authors: Xiaoming Wang, Qiong Xu, Alexandra L Bey, Yoonji Lee and Yong-hui Jiang
    Citation: Molecular Autism 2014 5:30
    Content type: Research Published on:

  3. Questionnaire-based studies suggest atypical sensory perception in over 90% of individuals with autism spectrum conditions (ASC). Sensory questionnaire-based studies in ASC mainly record parental reports of th...

    Authors: Teresa Tavassoli, Rosa A Hoekstra and Simon Baron-Cohen
    Citation: Molecular Autism 2014 5:29
    Content type: Research Published on:

  4. Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance ...

    Authors: Catarina T Correia, Inês C Conceição, Bárbara Oliveira, Joana Coelho, Inês Sousa, Ana F Sequeira, Joana Almeida, Cátia Café, Frederico Duque, Susana Mouga, Wendy Roberts, Kun Gao, Jennifer K Lowe, Bhooma Thiruvahindrapuram, Susan Walker, Christian R Marshall…
    Citation: Molecular Autism 2014 5:28
    Content type: Research Published on:

  7. Autism Spectrum Conditions (ASC) are a group of developmental conditions which affect communication, social interactions and behaviour. Mitochondrial oxidative dysfunction has been suggested as a mechanism of ...

    Authors: Jaroslava Durdiaková, Varun Warrier, Simon Baron-Cohen and Bhismadev Chakrabarti
    Citation: Molecular Autism 2014 5:25
    Content type: Research Published on:

  8. Advanced paternal age is robustly associated with several human neuropsychiatric disorders, particularly autism. The precise mechanism(s) mediating the paternal age effect are not known, but they are thought t...

    Authors: Rebecca G Smith, Cathy Fernandes, Rachel Kember, Leonard C Schalkwyk, Joseph Buxbaum, Abraham Reichenberg and Jonathan Mill
    Citation: Molecular Autism 2014 5:24
    Content type: Short report Published on:

  9. People with autism spectrum disorders (ASD) are known to have enhanced auditory perception, however, acoustic startle response to weak stimuli has not been well documented in this population. The objectives of...

    Authors: Hidetoshi Takahashi, Takayuki Nakahachi, Sahoko Komatsu, Kazuo Ogino, Yukako Iida and Yoko Kamio
    Citation: Molecular Autism 2014 5:23
    Content type: Research Published on:

  10. De novo loss-of-function (dnLoF) mutations are found twofold more often in autism spectrum disorder (ASD) probands than their unaffected siblings. Multiple independent dnLoF mutations in the same gene implicate t...

    Authors: Li Liu, Jing Lei, Stephan J Sanders, Arthur Jeremy Willsey, Yan Kou, Abdullah Ercument Cicek, Lambertus Klei, Cong Lu, Xin He, Mingfeng Li, Rebecca A Muhle, Avi Ma’ayan, James P Noonan, Nenad Šestan, Kathryn A McFadden, Matthew W State…
    Citation: Molecular Autism 2014 5:22
    Content type: Research Published on:

  11. The 39,XY*O mouse, which lacks the orthologues of the ADHD and autism candidate genes STS (steroid sulphatase) and ASMT (acetylserotonin O-methyltransferase), exhibits behavioural phenotypes relevant to developme...

    Authors: Simon Trent, Jonathan P Fry, Obah A Ojarikre and William Davies
    Citation: Molecular Autism 2014 5:21
    Content type: Research Published on:

  12. Many individuals with autism spectrum disorders (ASD) have difficulty with verbal communication, which might be due to a lack of spontaneous orientation toward social auditory stimuli. Previous studies have sh...

    Authors: I-Fan Lin, Makio Kashino, Haruhisa Ohta, Takashi Yamada, Masayuki Tani, Hiromi Watanabe, Chieko Kanai, Taisei Ohno, Yuko Takayama, Akira Iwanami and Nobumasa Kato
    Citation: Molecular Autism 2014 5:20
    Content type: Research Published on:

  14. Social-communication abilities are heritable traits, and their impairments overlap with the autism continuum. To characterise the genetic architecture of social-communication difficulties developmentally and i...

    Authors: Beate St Pourcain, David H Skuse, William P Mandy, Kai Wang, Hakon Hakonarson, Nicholas J Timpson, David M Evans, John P Kemp, Susan M Ring, Wendy L McArdle, Jean Golding and George Davey Smith
    Citation: Molecular Autism 2014 5:18
    Content type: Research Published on:

  15. While most neuropathologic studies focus on regions involved in behavioral abnormalities in autism, it is also important to identify whether areas that appear functionally normal are devoid of pathologic alter...

    Authors: Neha Uppal, Isabella Gianatiempo, Bridget Wicinski, James Schmeidler, Helmut Heinsen, Christoph Schmitz, Joseph D Buxbaum and Patrick R Hof
    Citation: Molecular Autism 2014 5:17
    Content type: Short report Published on:

  16. Fragile X syndrome and tuberous sclerosis are genetic syndromes that both have a high rate of comorbidity with autism spectrum disorder (ASD). Several lines of evidence suggest that these two monogenic disorde...

    Authors: Sek Won Kong, Mustafa Sahin, Christin D Collins, Mary H Wertz, Malcolm G Campbell, Jarrett D Leech, Dilja Krueger, Mark F Bear, Louis M Kunkel and Isaac S Kohane
    Citation: Molecular Autism 2014 5:16
    Content type: Research Published on:

  17. Children with Autism Spectrum Disorder (ASD) show unusual social behaviors and repetitive behaviors. Some of these behaviors, e.g., time spent in an area or turning rate/direction, can be automatically tracked...

    Authors: Ira L Cohen, Judith M Gardner, Bernard Z Karmel and Soh-Yule Kim
    Citation: Molecular Autism 2014 5:15
    Content type: Methodology Published on:

  18. Autism spectrum conditions (ASC) are a group of conditions characterized by difficulties in communication and social interaction, alongside unusually narrow interests and repetitive, stereotyped behaviour. Gen...

    Authors: Jaroslava Durdiaková, Varun Warrier, Sharmila Banerjee-Basu, Simon Baron-Cohen and Bhismadev Chakrabarti
    Citation: Molecular Autism 2014 5:14
    Content type: Research Published on:

  19. Autism spectrum disorders (ASDs) are male-biased and genetically heterogeneous. While sequencing of sporadic cases has identified de novo risk variants, the heritable genetic contribution and mechanisms driving t...

    Authors: Donna M Werling, Jennifer K Lowe, Rui Luo, Rita M Cantor and Daniel H Geschwind
    Citation: Molecular Autism 2014 5:13
    Content type: Research Published on:

  20. Despite the emphasis of autism spectrum disorders as a continuum of atypical social behaviors and the sexual heterogeneity of phenotypic manifestations, whether gaze processing constitutes an autistic endophen...

    Authors: Daisuke Matsuyoshi, Kana Kuraguchi, Yumiko Tanaka, Seina Uchida, Hiroshi Ashida and Katsumi Watanabe
    Citation: Molecular Autism 2014 5:12
    Content type: Letter to the Editor Published on:

  21. Autism spectrum disorder (ASD) is well recognized to be genetically heterogeneous. It is assumed that the genetic risk factors give rise to a broad spectrum of indistinguishable behavioral presentations.

    Authors: Hilgo Bruining, Marinus JC Eijkemans, Martien JH Kas, Sarah R Curran, Jacob AS Vorstman and Patrick F Bolton
    Citation: Molecular Autism 2014 5:11
    Content type: Research Published on:

  22. Known genetic variants can account for 10% to 20% of all cases with autism spectrum disorders (ASD). Overlapping cellular pathomechanisms common to neurons of the central nervous system (CNS) and in tissues of...

    Authors: Andreas G Chiocchetti, Denise Haslinger, Maximilian Boesch, Thomas Karl, Stefan Wiemann, Christine M Freitag, Fritz Poustka, Burghardt Scheibe, Johann W Bauer, Helmut Hintner, Michael Breitenbach, Josef Kellermann, Friedrich Lottspeich, Sabine M Klauck and Lore Breitenbach-Koller
    Citation: Molecular Autism 2014 5:10
    Content type: Research Published on:

  23. The homeobox transcription factor Engrailed2 (En2) has been studied extensively in neurodevelopment, particularly in the midbrain/hindbrain region and cerebellum, where it exhibits dynamic patterns of expression ...

    Authors: Ian T Rossman, Lulu Lin, Katherine M Morgan, Marissa DiGiovine, Elise K Van Buskirk, Silky Kamdar, James H Millonig and Emanuel DiCicco-Bloom
    Citation: Molecular Autism 2014 5:9
    Content type: Research Published on:

  24. Lateralization of brain structure and function occurs in typical development, and abnormal lateralization is present in various neuropsychiatric disorders. Autism is characterized by a lack of left lateralizat...

    Authors: Jared A Nielsen, Brandon A Zielinski, P Thomas Fletcher, Andrew L Alexander, Nicholas Lange, Erin D Bigler, Janet E Lainhart and Jeffrey S Anderson
    Citation: Molecular Autism 2014 5:8
    Content type: Research Published on:

  25. There has been significant progress in identifying genes that confer risk for autism spectrum disorders (ASDs). However, the heterogeneity of symptom presentation in ASDs impedes the detection of ASD risk gene...

    Authors: Cara R Damiano, Joseph Aloi, Kaitlyn Dunlap, Caley J Burrus, Maya G Mosner, Rachel V Kozink, Ralph Edward McLaurin, O’Dhaniel A Mullette-Gillman, Ronald McKell Carter, Scott A Huettel, Francis Joseph McClernon, Allison Ashley-Koch and Gabriel S Dichter
    Citation: Molecular Autism 2014 5:7
    Content type: Research Published on:

  26. Autism spectrum disorder (ASD) refers to a range of neurodevelopmental conditions characterized by social communication deficits, repetitive behaviours, and restrictive interests. Impaired inhibition has been ...

    Authors: Anji S Vara, Elizabeth W Pang, Krissy AR Doyle-Thomas, Julie Vidal, Margot J Taylor and Evdokia Anagnostou
    Citation: Molecular Autism 2014 5:6
    Content type: Research Published on:

  27. Genetics clearly plays a major role in the etiology of autism spectrum disorders (ASDs), but studies to date are only beginning to characterize the causal genetic variants responsible. Until recently, studies ...

    Authors: Nori Matsunami, Charles H Hensel, Lisa Baird, Jeff Stevens, Brith Otterud, Tami Leppert, Tena Varvil, Dexter Hadley, Joseph T Glessner, Renata Pellegrino, Cecilia Kim, Kelly Thomas, Fengxiang Wang, Frederick G Otieno, Karen Ho, Gerald B Christensen…
    Citation: Molecular Autism 2014 5:5
    Content type: Research Published on:

  28. The higher prevalence of Asperger Syndrome (AS) and other autism spectrum conditions in males has been known for many years. However, recent multiplex immunoassay profiling studies have shown that males and fe...

    Authors: Hannah Steeb, Jordan M Ramsey, Paul C Guest, Pawel Stocki, Jason D Cooper, Hassan Rahmoune, Erin Ingudomnukul, Bonnie Auyeung, Liliana Ruta, Simon Baron-Cohen and Sabine Bahn
    Citation: Molecular Autism 2014 5:4
    Content type: Research Published on:

  30. The measurement of head circumference (HC) is widely used in clinical and research settings as a proxy of neural growth. Although it could aid data collection, no studies have explored either the reliability o...

    Authors: Jillian C Sullivan, Teresa Tavassoli, Kimberly Armstrong, Simon Baron-Cohen and Ayla Humphrey
    Citation: Molecular Autism 2014 5:2
    Content type: Short report Published on:

  31. Autism spectrum disorders (ASDs) comprise a range of neurodevelopmental conditions of varying severity, characterized by marked qualitative difficulties in social relatedness, communication, and behavior. Desp...

    Authors: Holly N Cukier, Nicole D Dueker, Susan H Slifer, Joycelyn M Lee, Patrice L Whitehead, Eminisha Lalanne, Natalia Leyva, Ioanna Konidari, Ryan C Gentry, William F Hulme, Derek Van Booven, Vera Mayo, Natalia K Hofmann, Michael A Schmidt, Eden R Martin, Jonathan L Haines…
    Citation: Molecular Autism 2014 5:1
    Content type: Research Published on:

  32. Transcriptome analysis has been used in autism spectrum disorder (ASD) to unravel common pathogenic pathways based on the assumption that distinct rare genetic variants or epigenetic modifications affect commo...

    Authors: Paola Sgadò, Giovanni Provenzano, Erik Dassi, Valentina Adami, Giulia Zunino, Sacha Genovesi, Simona Casarosa and Yuri Bozzi
    Citation: Molecular Autism 2013 4:51
    Content type: Research Published on:

  34. Autism spectrum disorder (ASD) can be difficult to distinguish from other psychiatric disorders. The clinical assessment of ASD is lengthy, and has to be performed by a specialized clinician. Therefore, a scre...

    Authors: Jonna M Eriksson, Lisa MJ Andersen and Susanne Bejerot
    Citation: Molecular Autism 2013 4:49
    Content type: Research Published on:

  35. Autism spectrum conditions (ASC) are associated with deficits in social interaction and communication, alongside repetitive, restricted, and stereotyped behavior. ASC is highly heritable. The gamma-aminobutyri...

    Authors: Varun Warrier, Simon Baron-Cohen and Bhismadev Chakrabarti
    Citation: Molecular Autism 2013 4:48
    Content type: Research Published on:

  36. Autism spectrum disorders (ASD) and epilepsy frequently occur together. Prevalence rates are variable, and have been attributed to age, gender, comorbidity, subtype of pervasive developmental disorder (PDD) an...

    Authors: Claire Amiet, Isabelle Gourfinkel-An, Claudine Laurent, Nicolas Bodeau, Bérengère Génin, Eric Leguern, Sylvie Tordjman and David Cohen
    Citation: Molecular Autism 2013 4:47
    Content type: Research Published on:

  37. Synaesthesia is a neurodevelopmental condition in which a sensation in one modality triggers a perception in a second modality. Autism (shorthand for Autism Spectrum Conditions) is a neurodevelopmental conditi...

    Authors: Simon Baron-Cohen, Donielle Johnson, Julian Asher, Sally Wheelwright, Simon E Fisher, Peter K Gregersen and Carrie Allison
    Citation: Molecular Autism 2013 4:40
    Content type: Research Published on:

  38. Aberrant MeCP2 expression in brain is associated with neurodevelopmental disorders including autism. In the brain of stressed mouse and autistic human patients, reduced MeCP2 expression is correlated with Mecp2/M...

    Authors: Vichithra RB Liyanage, Robby M Zachariah and Mojgan Rastegar
    Citation: Molecular Autism 2013 4:46
    Content type: Research Published on:

  39. Austism spectrum disorder (ASD) is a heterogeneous behavioral disorder or condition characterized by severe impairment of social engagement and the presence of repetitive activities. The molecular etiology of ...

    Authors: Thomas A Lanz, Edward Guilmette, Mark M Gosink, James E Fischer, Lawrence W Fitzgerald, Diane T Stephenson and Mathew T Pletcher
    Citation: Molecular Autism 2013 4:45
    Content type: Research Published on:

  40. The objectives of this study were to explore associations between autistic traits and self-reported clinical symptoms in a population with anorexia nervosa (AN). Experimental and self-report evidence reveals s...

    Authors: Kate Tchanturia, Emma Smith, Felicitas Weineck, Eliz Fidanboylu, Nikola Kern, Janet Treasure and Simon Baron Cohen
    Citation: Molecular Autism 2013 4:44
    Content type: Research Published on:

  41. Neurobeachin (NBEA) has been identified as a candidate gene for autism spectrum disorders (ASD) in several unrelated patients with alterations in the NBEA gene. The exact function of NBEA, a multidomain scaffoldi...

    Authors: Kim Nuytens, Krizia Tuand, Michela Di Michele, Kurt Boonen, Etienne Waelkens, Kathleen Freson and John WM Creemers
    Citation: Molecular Autism 2013 4:43
    Content type: Research Published on:

  42. A recent report indicated that numbers of Sutterella spp. are elevated in gastrointestinal biopsies taken from children with autism spectrum disorder (ASD). We have recently reported changes in the numbers of som...

    Authors: Lv Wang, Claus T Christophersen, Michael J Sorich, Jacobus P Gerber, Manya T Angley and Michael A Conlon
    Citation: Molecular Autism 2013 4:42
    Content type: Short report Published on:

  43. Lohith et al. (Mol Autism 4:15, 2013) recently identified increased metabotropic glutamate receptor 5 (mGluR5) expression in the frontal cortex (FC) of subjects with fragile X syndrome. These results are consi...

    Authors: Øyvind G Rustan, Timothy D Folsom, Mahtab K Yousefi and S Hossein Fatemi
    Citation: Molecular Autism 2013 4:41
    Content type: Letter to the Editor Published on:

  44. Our independent cohort studies have consistently shown the reduction of the nuclear receptor RORA (retinoic acid-related orphan receptor-alpha) in lymphoblasts as well as in brain tissues from individuals with...

    Authors: Tewarit Sarachana and Valerie W Hu
    Citation: Molecular Autism 2013 4:39
    Content type: Research Published on:

  45. Magnetoencephalography (MEG) is used to measure the auditory evoked magnetic field (AEF), which reflects language-related performance. In young children, however, the simultaneous quantification of the bilater...

    Authors: Yuko Yoshimura, Mitsuru Kikuchi, Kiyomi Shitamichi, Sanae Ueno, Toshio Munesue, Yasuki Ono, Tsunehisa Tsubokawa, Yasuhiro Haruta, Manabu Oi, Yo Niida, Gerard B Remijn, Tsutomu Takahashi, Michio Suzuki, Haruhiro Higashida and Yoshio Minabe
    Citation: Molecular Autism 2013 4:38
    Content type: Research Published on:

  47. New technologies enabling genome-wide interrogation have led to a large and rapidly growing number of autism spectrum disorder (ASD) candidate genes. Although encouraging, the volume and complexity of these da...

    Authors: Brett S Abrahams, Dan E Arking, Daniel B Campbell, Heather C Mefford, Eric M Morrow, Lauren A Weiss, Idan Menashe, Tim Wadkins, Sharmila Banerjee-Basu and Alan Packer
    Citation: Molecular Autism 2013 4:36
    Content type: Letter to the Editor Published on:

  48. Previously, we identified multiple, rare serotonin (5-HT) transporter (SERT) variants in children with autism spectrum disorder (ASD). Although in our study the SERT Ala56 variant was over-transmitted to ASD p...

    Authors: Travis M Kerr, Christopher L Muller, Mahfuzur Miah, Christopher S Jetter, Rita Pfeiffer, Charisma Shah, Nicole Baganz, George M Anderson, Jacqueline N Crawley, James S Sutcliffe, Randy D Blakely and Jeremy Veenstra-VanderWeele
    Citation: Molecular Autism 2013 4:35
    Content type: Research Published on:

  49. Social communication difficulties represent an autistic trait that is highly heritable and persistent during the course of development. However, little is known about the underlying genetic architecture of thi...

    Authors: Beate St Pourcain, AndrewJ O Whitehouse, Wei Q Ang, Nicole M Warrington, Joseph T Glessner, Kai Wang, Nicholas J Timpson, David M Evans, John P Kemp, Susan M Ring, Wendy L McArdle, Jean Golding, Hakon Hakonarson, Craig E Pennell and George Davey Smith
    Citation: Molecular Autism 2013 4:34
    Content type: Research Published on:

  50. The ‘Reading the Mind in the Eyes’ (Eyes) test is an advanced test of theory of mind. It is widely used to assess individual differences in social cognition and emotion recognition across different groups and ...

    Authors: Enrique G Fernández-Abascal, Rosario Cabello, Pablo Fernández-Berrocal and Simon Baron-Cohen
    Citation: Molecular Autism 2013 4:33
    Content type: Research Published on:
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Molecular Autism

ISSN: 2040-2392