Recent Publications in Autism

 

Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL. Copy number and sequence variants implicate APBA2 as an autism candidate gene. Autism Res 2009; 2: 359-64.

Bedogni F, Hodge RD, Elsen GE, Nelson BR, Daza RA, Beyer RP, Bammler TK, Rubenstein JL, Hevner RF.  Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex. Proc Natl Acad Sci U S A. 2010 Jul 20;107(29):13129-34. Epub 2010 Jul 6.

Bedogni F, Hodge RD, Nelson BR, Frederick EA, Shiba N, Daza RA, Hevner RF.  Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology.  Gene Expr Patterns. 2010 Jan;10(1):9-15. Epub 2009 Dec 3.

Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, KaraMohamed S, Badner JA, Matsui S, Conroy J, McQuaid D, Gergel J, Hatchwell E, Gilliam C, Gershon ES, Nowak NJ, Dobyns WB, Cook EH.  Novel Submicroscopic chromosomal abnormalities detected in Autism Spectrum Disorder.  Biol Psychiatr 2008;63:1111-1117.

Faja S, Aylward E, Bernier R, Dawson G.  Becoming a face expert: a computerized face-training program for high-functioning individuals with autism spectrum disorders. Dev Neuropsychol. 2008; 33: 1-24.

Faja S, Webb SJ, Jones E, Merkle K, Kamara D, Bavaro J, Aylward E, Dawson G.  The effects of face expertise training on behavioral performance and brain activity of adults with high functioning autism spectrum disorders.  J Autism Dev Disord. 2012; 42:278-93.

Faja S, Webb SJ, Merkle K, Aylward E, Dawson G. Face configuration accuracy and processing speed among adults with high-functioning autism spectrum disorders.  J Autism Dev Disord 2009; 39:532-538.

Fatemi SH,  Aldinger KA, Ashwood P, Bauman ML, Blaha CD, Blatt GJ, Chauhan A,      Chauhan V, Dager SR, Dickson PE, Estes AM, Goldowitz D, Heck DH, Kemper TL, King BH, Martin LA, Millen KJ, Mittleman G, Mosconi MW, Persico AM, Sweeney JA, Webb SJ and Welsh J. (2012) Consensus Paper: Pathological Role of the Cerebellum in Autism. The Cerebellum. 2012 Feb 28. [Epub ahead of print]. PMID:22370873

Flores CG, Valcante G, Guter S, Zaytoun A, Wray E, Bell L, Jacob S, Lewis MH, Driscoll DJ, Cook EH and Kim SJ (2011). Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome. J Neurodev Disord., 3(4):316-24. PMCID: PMC3261264

Hamilton SM, Spencer CM, Harrison WR, Yuva-Paylor LA, Graham DF, Daza RA, Hevner RF, Overbeek PA, Paylor R. Multiple autism-like behaviors in a novel transgenic mouse model.  Behav Brain Res. 2011 Mar 17;218(1):29-41. Epub 2010 Nov 17.

Iwata T,  Hevner RF.  Fibroblast growth factor signaling in development of the cerebral cortex. Dev Growth Differ. 2009 Apr;51(3):299-323.

Jacob S, Brune CW, Badner JA, Ernstrom K, Courchesne E, Lord C, Leventhal BL, Cook EH, Kim SJ.  Family-based association testing of glutamate transporter genes in autism.  Psychiatr Genet. 2011 Aug;21(4):212-3.

Kim SJ, Miller J, Kuipers P, German J, Beaudet A, Sahoo T and Driscoll DJ (2012). Unique Deletions in Prader-Willi Syndrome Reveal Distinct Phenotypes. Eur J Hum Genet., 20(3):283-90. PMCID: PMC3283188[Available on 2013/3/1]

Kim SJ, Silva RM, Flores CG, Jacob S, Guter G, Valcante G, Zaytoun AM, Cook EH and Badner JA (2011). A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders. Mol Autism 2(1):8 (PMCID: PMC312363)

Kim YS, Leventhal BL, Koh YJ, Fombonne E, Laska E, Lim EC, Cheon KA, Kim SJ, Kim YK, Lee HK, Song DH, Grinker RR (2011). Prevalence of Autism Spectrum Disorders in a Total Population Sample. Am J Psychiatry 168(9):904-12. PMC Journal – In Process

Kleinhans NM, Johnson LC, Mahurin R, Richards T, Stegbauer KC, Greenson J, Dawson G, Aylward E. Abnormal functional connectivity in autism spectrum disorders during face processing. Brain.  2008; 131: 1000-1012.

Kleinhans NM, Johnson LC, Richards T, Mahurin R, Greenson J, Dawson G, Aylward E. Reduced neural habituation in the amygdala and social impairments in autism spectrum disorders. Am J Psychiatry. 2009;166:467-475.

Kleinhans NM, Richards T, Johnson LC, Weaver KE, Greenson J, Dawson G, Aylward E. fMRI evidence of neural abnormalities in the subcortical face processing system in ASD. Neuroimage. 2011; 54:697-704.

Kleinhans NM, Richards T, Weaver K, Johnson LC, Greenson J, Dawson G, Aylward E.  Association between amygdala response to emotional faces and social anxiety in autism spectrum disorders.  Neuropsychologia. 2010; 48: 3665-3670.

Kleinhans NM, Richards T, Weaver KE, Liang O, Dawson G, Aylward E.    Brief report: biochemical correlates of clinical impairment in high functioning autism and Asperger’s disorder. J Autism Dev Disord. 2009; 39:1079-1086.

Kumar RA, Karamohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH, Jr., Dobyns WB, Christian SL. Recurrent 16p11.2 microdeletions in autism.  Hum Mol Genet 2008;17:628-638.

Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, KaraMohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, Christian SL. Association and mutation analysis of 16p11.2 autism candidate genes. PLOS One 2009;4:e4582.

Kumar RA, Sudi J, Babatz TD, Brune CW, Oswald D, Yen M, Nowak NJ, Cook EH, Christian SL, Dobyns WB. A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. J Med Genet 2010; 47: 81-90.

Lewis M, Kim SJ.   The pathophysiology of restricted repetitive behavior. J Neurodev Disord. 2009 Jun;1(2):114-32. Epub 2009 Jun 16.

Roberts TPL, Gandal M, Siegel S, Vianney-Rodrigues P, Welsh JP (2012) Autism spectrum disorders. In Barret JE, Coyle JT, Williams M, Translational Neuroscience.  Cambridge, pp. 273-302.

Shrimpton A, Kessler JA, Shaffer LG, Stack C, Jalali A, Little R, Goldstein J, Angle B, Chary A, Coppinger J, Mathison DJ, Khan S, Poznanski AK, Dobyns WB, Craig DW, Hoo J, Sarco D, Bassuk AG. Variability of epilepsy, autism, brachydactyly, and other clinical features in familial and sporadic 2q37.3 deletion. J Pediatr Neurol 2009;7(3):279-283.

Simons VIP Consortium. Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. Neuron. 2012;73:1063-1067.

Sterling L, Dawson G, Webb S, Murias M, Munson J, Panagiotides H, Aylward E. The role of face familiarity in eye tracking of faces by individuals with autism spectrum disorders. J Autism Dev Disord. 2008; 38: 1666-1675.

Vianney-Rodrigues P, Iancu OD, Welsh JP (2011) Gamma oscillation in the auditory cortex of awake rats. Eur J Neurosci 33: 119-129.

Webb SJ, Jones EJ, Merkle K, Murias M, Greenson J, Richards T, Aylward E, Dawson G.  Response to familiar faces, newly familiar faces, and novel faces as assessed by ERPs is intact in adults with autism spectrum disorders.  Int J Psychophysiol. 2010; 77:106-117.

Webb SJ, Merkle K, Murias M, Richards T, Aylward E, Dawson G.  ERP responses differentiate inverted but not upright face processing in adults with ASD.  Soc Cogn Affect Neurosci. 2012;7:578-87

Welsh JP, Ahn ES, Placantonakis DG. Is autism due to brain desynchronization? autismInt J Dev Neurosci. 2005 Apr-May;23(2-3):253-63.

Welsh JP, Zeng XH, Rodrigues P, Washburn E (2008) Neocortical and neocerebellar synchronization of fast oscillations: Role in the dynamic organization of rapid temporal processing. Adv Cog Dynamics. 637-640.

Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet. 2012 Oct;49(10):660-8.

The Simons VIP Consortium Simons Variation in Individuals Project (Simons VIP): A Genetics-First Approach to Studying Autism Spectrum and Related Neurodevelopmental Disorders. Neuron. 2012; 73(6):1063-1067.

Fatemi SH, Aldinger KA, Ashwood P, Bauman ML, Blaha CD, Blatt GJ, Chauhan A, Chauhan V, Dager SR, Dickson PE, Estes AM, Goldowitz D, Heck DH, Kemper TL, King BH, Martin LA, Millen KJ, Mittleman G, Mosconi MW, Persico AM, Sweeney JA, Webb SJ, Welsh JP. Consensus paper: pathological role of the cerebellum in autism. Cerebellum. 2012 Sep;11(3):777-807.