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1.
8046 Accesses
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Common genetic variants, acting additively, are a major source of risk for autism
Lambertus Klei, Stephan J Sanders, Michael T Murtha, Vanessa Hus, Jennifer K Lowe, A Willsey, Daniel Moreno-De-Luca, Timothy W Yu, Eric Fombonne, Daniel Geschwind, Dorothy E Grice, David H Ledbetter, Catherine Lord, Shrikant M Mane, Christa Martin, Donna M Martin, Eric M Morrow, Christopher A Walsh, Nadine M Melhem, Pauline Chaste, James S Sutcliffe, Matthew W State, Edwin H Cook, Kathryn Roeder, Bernie Devlin Molecular Autism 2012, 3:9 (15 October 2012)
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Editor’s summary
Common genetic variants have a substantial additive genetic effect on autism spectrum disorder liability and this effect differs between simplex and multiplex families.
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2.
6153 Accesses
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Facial phenotypes in subgroups of prepubertal boys with autism spectrum disorders are correlated with clinical phenotypes
Kristina Aldridge, Ian D George, Kimberly K Cole, Jordan R Austin, T Nicole Takahashi, Ye Duan, Judith H Miles Molecular Autism 2011, 2:15 (14 October 2011)
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Editor’s summary
A distinctive facial phenotype in boys with autism, which differs from that of typically developing boys, may reflect alterations in embryologic brain development in children with autism spectrum disorders.
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3.
5428 Accesses
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A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism
John P Hussman, Ren-Hua Chung, Anthony J Griswold, James M Jaworski, Daria Salyakina, Deqiong Ma, Ioanna Konidari, Patrice L Whitehead, Jeffery M Vance, Eden R Martin, Michael L Cuccaro, John R Gilbert, Jonathan L Haines, Margaret A Pericak-Vance Molecular Autism 2011, 2:1 (19 January 2011)
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4.
3914 Accesses
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Intranasal oxytocin versus placebo in the treatment of adults with autism spectrum disorders: a randomized controlled trial
Evdokia Anagnostou, Latha Soorya, William Chaplin, Jennifer Bartz, Danielle Halpern, Stacey Wasserman, A Ting Wang, Lauren Pepa, Nadia Tanel, Azadeh Kushki, Eric Hollander Molecular Autism 2012, 3:16 (5 December 2012)
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5.
3447 Accesses
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Histopathologic characterization of the BTBR mouse model of autistic-like behavior reveals selective changes in neurodevelopmental proteins and adult hippocampal neurogenesis
Diane T Stephenson, Sharon M O'Neill, Sapna Narayan, Aadhya Tiwari, Elizabeth Arnold, Harry D Samaroo, Fu Du, Robert H Ring, Brian Campbell, Mathew Pletcher, Vidita A Vaidya, Daniel Morton Molecular Autism 2011, 2:7 (16 May 2011)
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6.
3089 Accesses
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Fragile X and autism: Intertwined at the molecular level leading to targeted treatments
Randi Hagerman, Gry Hoem, Paul Hagerman Molecular Autism 2010, 1:12 (21 September 2010)
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7.
2925 Accesses
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Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children
Teresa Tavassoli, Bonnie Auyeung, Laura C Murphy, Simon Baron-Cohen, Bhismadev Chakrabarti Molecular Autism 2012, 3:6 (6 July 2012)
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Editor’s summary
Novel human study shows an association between GABRB3 variation and tactile sensitivity, supporting previous evidence from animal models implicating the role of GABRB3 variation in the atypical sensory sensitivity in autism spectrum conditions.
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8.
2885 Accesses
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PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism
Brent C Satterfield, Rebecca A Garcia, Fiorella Gurrieri, Charles E Schwartz Molecular Autism 2010, 1:14 (14 October 2010)
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9.
2874 Accesses
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Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci
Dale J Hedges, Kara L Hamilton-Nelson, Stephanie J Sacharow, Laura Nations, Gary W Beecham, Zhanna M Kozhekbaeva, Brittany L Butler, Holly N Cukier, Patrice L Whitehead, Deqiong Ma, James M Jaworski, Lubov Nathanson, Joycelyn M Lee, Stephen L Hauser, Jorge R Oksenberg, Michael L Cuccaro, Jonathan L Haines, John R Gilbert, Margaret A Pericak-Vance Molecular Autism 2012, 3:2 (2 April 2012)
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Editor’s summary
Support for the role of rare structural variants at multiple genomic loci in autism spectrum disorders, and in particular the significant enrichment of rare exonic deletions in NRXN1 in autistic vs. non-autistic individuals.
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10.
2803 Accesses
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Review of neuroimaging in autism spectrum disorders: what have we learned and where we go from here
Evdokia Anagnostou, Margot J Taylor Molecular Autism 2011, 2:4 (18 April 2011)
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11.
2705 Accesses
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Defining the broader, medium and narrow autism phenotype among parents using the Autism Spectrum Quotient (AQ)
Sally Wheelwright, Bonnie Auyeung, Carrie Allison, Simon Baron-Cohen Molecular Autism 2010, 1:10 (17 June 2010)
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Editor’s summary
The Autism Spectrum Quotient self-report questionnaire can be used to assess the broader, medium and narrow autism phenotypes in non-clinical samples, including first-degree relatives of individuals with autism spectrum conditions.
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12.
2636 Accesses
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Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication
Ozlem Bozdagi, Takeshi Sakurai, Danae Papapetrou, Xiaobin Wang, Dara L Dickstein, Nagahide Takahashi, Yuji Kajiwara, Mu Yang, Adam M Katz, Maria Scattoni, Mark J Harris, Roheeni Saxena, Jill L Silverman, Jacqueline N Crawley, Qiang Zhou, Patrick R Hof, Joseph D Buxbaum Molecular Autism 2010, 1:15 (17 December 2010)
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| PubMed | Cited on BioMed Central
| F1000 Biology
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Editor’s summary
Recent discovery may explain how mutations affecting SHANK3 may lead to autism spectrum disorders
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13.
2633 Accesses
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High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters
Pauline Chaste, Catalina Betancur, Marion Gérard-Blanluet, Anne Bargiacchi, Suzanne Kuzbari, Séverine Drunat, Marion Leboyer, Thomas Bourgeron, Richard Delorme Molecular Autism 2012, 3:5 (27 June 2012)
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14.
2598 Accesses
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Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder
Karyn Steinberg, Dhanya Ramachandran, Viren C Patel, Amol C Shetty, David J Cutler, Michael E Zwick Molecular Autism 2012, 3:8 (28 September 2012)
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15.
2589 Accesses
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An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males
Ren-Hua Chung, Deqiong Ma, Kai Wang, Dale J Hedges, James M Jaworski, John R Gilbert, Michael L Cuccaro, Harry H Wright, Ruth K Abramson, Ioanna Konidari, Patrice L Whitehead, Gerard D Schellenberg, Hakon Hakonarson, Jonathan L Haines, Margaret A Pericak-Vance, Eden R Martin Molecular Autism 2011, 2:18 (4 November 2011)
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Editor’s summary
TBL1X, which is part of the Wnt signaling pathway, is identified as a candidate gene for autism spectrum disorder (ASD), in the largest chromosome-wide study of the X chromosome in association with ASD.
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16.
2539 Accesses
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Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder
Paula S Ramos, Satria Sajuthi, Carl D Langefeld, Stephen J Walker Molecular Autism 2012, 3:4 (9 June 2012)
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17.
2438 Accesses
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Support for calcium channel gene defects in autism spectrum disorders
Ake Tzu-Hui Lu, Xiaoxian Dai, Julian A Martinez-Agosto, Rita M Cantor Molecular Autism 2012, 3:18 (15 December 2012)
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18.
2414 Accesses
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Elevated cortisol during play is associated with age and social engagement in children with autism
Blythe A Corbett, Clayton W Schupp, David Simon, Niles Ryan, Sally Mendoza Molecular Autism 2010, 1:13 (27 September 2010)
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19.
2360 Accesses
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Foetal testosterone and autistic traits in 18 to 24-month-old children
Bonnie Auyeung, Kevin Taylor, Gerald Hackett, Simon Baron-Cohen Molecular Autism 2010, 1:11 (12 July 2010)
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Editor’s summary
Increased prenatal exposure to testosterone is associated with autistic traits in children aged 18 to 24 months and is consistent with positive correlations previously identified in older children and adults.
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20.
2339 Accesses
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Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci
Lea K Davis, Eric R Gamazon, Emily Kistner-Griffin, Judith A Badner, Chunyu Liu, Edwin H Cook, James S Sutcliffe, Nancy J Cox Molecular Autism 2012, 3:3 (16 May 2012)
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21.
2336 Accesses
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Variation in the human cannabinoid receptor CNR1 gene modulates gaze duration for happy faces
Bhismadev Chakrabarti, Simon Baron-Cohen Molecular Autism 2011, 2:10 (29 June 2011)
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Editor’s summary
Variations in the CNR1 gene are associated with how long people look at facial expression of emotion, particularly happy faces; these findings could lead to further understanding of clinical conditions marked by atypical eye contact and facial emotion processing such as autism.
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22.
2265 Accesses
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Brain region-specific altered expression and association of mitochondria-related genes in autism
Ayyappan Anitha, Kazuhiko Nakamura, Ismail Thanseem, Kazuo Yamada, Yoshimi Iwayama, Tomoko Toyota, Hideo Matsuzaki, Taishi Miyachi, Satoru Yamada, Masatsugu Tsujii, Kenji J Tsuchiya, Kaori Matsumoto, Yasuhide Iwata, Katsuaki Suzuki, Hironobu Ichikawa, Toshiro Sugiyama, Takeo Yoshikawa, Norio Mori Molecular Autism 2012, 3:12 (1 November 2012)
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23.
2214 Accesses
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Social and monetary reward processing in autism spectrum disorders
Sonja Delmonte, Joshua H Balsters, Jane McGrath, Jacqueline Fitzgerald, Sean Brennan, Andrew J Fagan, Louise Gallagher Molecular Autism 2012, 3:7 (26 September 2012)
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24.
2194 Accesses
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A review of the evidence for the canonical Wnt pathway in autism spectrum disorders
Hans Kalkman Molecular Autism 2012, 3:10 (19 October 2012)
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25.
2133 Accesses
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Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism
Katherine E Tansey, Matthew J Hill, Lynne E Cochrane, Michael Gill, Richard JL Anney, Louise Gallagher Molecular Autism 2011, 2:3 (31 March 2011)
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