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SFARI-funded publications

Below is a list of publications generated with SFARI support. The list includes papers from SFARI-funded investigators as well as from independent investigators who used genetic data, phenotypic data or biospecimens from the Simons Simplex Collection or Simons Variation in Individuals Project.

Please contact publications@simonsfoundation.org if you notice omissions or have a new publication you’d like us to add.




2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006

2015

Blasi A., Lloyd-Fox S., Sethna V., Brammer M.J., Mercure E., Murray L., Williams S.C., Simmons A., Murphy D.G., Johnson M.H. Atypical processing of voice sounds in infants at risk for autism spectrum disorder. Cortex 71, 122-133 (2015) PubMed

Brunner D., Kabitzke P., He D., Cox K., Thiede L., Hanania T., Sabath E., Alexandrov V., Saxe M., Peles E., Mills A., Spooren W., Ghosh A., Feliciano P., Benedetti M., Luo Clayton A., Biemans B. Comprehensive analysis of the 16p11.2 deletion and null CNTNAP2 mouse models of autism spectrum disorder. PLoS One 10, e0134572 (2015) PubMed

Carson D.S., Garner J.P., Hyde S.A., Libove R.A., Berquist S.W., Hornbeak K.B., Jackson L.P., Sumiyoshi R.D., Howerton C.L., Hannah S.L., Partap S., Phillips J.M., Hardan A.Y., Parker K.J. Arginine vasopressin is a blood-based biomarker of social functioning in children with autism. PLoS One 10, e0132224 (2015) PubMed

Chang J., Gilman S.R., Chiang A.H., Sanders S.J., Vitkup D. Genotype to phenotype relationships in autism spectrum disorders. Nat. Neurosci. 18, 191-198 (2015) PubMed

Chen Y., Huang W.C., Séjourné J., Clipperton-Allen A.E., Page D.T. PTEN mutations alter brain growth trajectory and allocation of cell types through elevated beta-catenin signaling. J. Neurosci. 35, 10252-10267 (2015) PubMed

Chita-Tegmark M., Arunachalam S., Nelson C.A., Tager-Flusberg H. Eye-tracking measurements of language processing: Developmental differences in children at high risk for ASD. J. Autism Dev. Disord. Epub ahead of print (2015) PubMed

Contractor A., Klyachko V.A., Portera-Cailliau C. Altered neuronal and circuit excitability in fragile X syndrome. Neuron 87, 699-715 (2015) PubMed

Cotney J., Muhle R.A., Sanders S.J., Liu L., Willsey A.J., Niu W., Liu W., Klei L., Lei J., Yin J., Reilly S.K., Tebbenkamp A.T., Bichsel C., Pletikos M., Sestan N., Roeder K., State M.W., Devlin B., Noonan J.P. The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. Nat. Commun. 6, 6404 (2015) PubMed

Chen N., Sugihara H., Sur M. An acetylcholine-activated microcircuit drives temporal dynamics of cortical activity. Nat. Neurosci. 18, 892-902 (2015) PubMed

Cronk J.C., Derecki N.C., Ji E., Xu Y., Lampano A.E., Smirnov I., Baker W., Norris G.T., Marin I., Coddington N., Wolf Y., Turner S.D., Aderem A., Klibanov A.L., Harris T.H., Jung S., Litvak V., Kipnis J. Methyl-CpG binding protein 2 regulates microglia and macrophage gene expression in response to inflammatory stimuli. Immunity 42, 679-691 (2015) PubMed

Davis J.M., Searles Quick V.B., Sikela J.M. Replicated linear association between DUF1220 copy number and severity of social impairment in autism. Hum. Genet. Epub ahead of print (2015) PubMed

De Marco Garcia N.V., Priya R., Tuncdemir S.N., Fishell G., Karayannis T. Sensory inputs control the integration of neurogliaform interneurons into cortical circuits. Nat. Neurosci. 18, 393-401 (2015) PubMed

Ellegood J., Anagnostou E., Babineau B.A., Crawley J.N., Lin L., Genestine M., DiCicco-Bloom E., Lai J.K., Foster J.A., Peñagarikano O., Geschwind D.H., Pacey L.K., Hampson D.R., Laliberté C.L., Mills A.A., Tam E., Osborne L.R., Kouser M., Espinosa-Becerra F., Xuan Z., Powell C.M., Raznahan A., Robins D.M., Nakai N., Nakatani J., Takumi T., van Eede M.C., Kerr T.M., Muller C., Blakely R.D., Veenstra-VanderWeele J., Henkelman R.M., Lerch J.P. Clustering autism: Using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity. Mol. Psychiatry 20, 118-125 (2015) PubMed

Estes M.L. and A.K. McAllister Immune mediators in the brain and peripheral tissues in autism spectrum disorder. Nat. Rev. Neurosci. 16, 469-486 (2015) PubMed

Grosenick L., Marshel J.H., Deisseroth K. Closed-loop and activity-guided optogenetic control. Neuron 86, 106-139 (2015) PubMed

Hahamy A., Behrmann M., Malach R. The idiosyncratic brain: Distortion of spontaneous connectivity patterns in autism spectrum disorder. Nat. Neurosci. 18, 302-309 (2015) PubMed

He S., Li Z., Ge S., Yu Y.C., Shi S.H. Inside-out radial migration facilitates lineage-dependent neocortical microcircuit assembly. Neuron 86, 1159-1166 (2015) PubMed

Holmes A.J., Hollinshead M.O., O'Keefe T.M., Petrov V.I., Fariello G.R., Wald L.L., Fischl B., Rosen B.R., Mair R.W., Roffman J.L., Smoller J.W., Buckner R.L. Brain genomics superstruct project initial data release with structural, functional, and behavioral measures. Sci. Data 2, 150031 (2015) PubMed

Hormozdiari F., Penn O., Borenstein E., Eichler E.E. The discovery of integrated gene networks for autism and related disorders. Genome Res. 25, 142-154 (2015) PubMed

Keehn B., Vogel-Farley V., Tager-Flusberg H., Nelson C.A. Atypical hemispheric specialization for faces in infants at risk for autism spectrum disorder. Autism Res. Epub ahead of print (2015) PubMed

Khan S., Michmizos K., Tommerdahl M., Ganesan S., Kitzbichler M.G., Zetino M., Garel K.L., Herbert M.R., Hämäläinen M.S., Kenet T. Somatosensory cortex functional connectivity abnormalities in autism show opposite trends, depending on direction and spatial scale. Brain Epub ahead of print (2015) PubMed

Kloth A.D., Badura A., Li A., Cherskov A., Connolly S.G., Giovannucci A., Bangash M.A., Grasselli G., Peñagarikano O., Piochon C., Tsai P.T., Geschwind D.H., Hansel C., Sahin M., Takumi T., Worley P.F., Wang S.S. Cerebellar associative sensory learning defects in five mouse autism models. Elife Epub ahead of print (2015) PubMed

Kim Y., Venkataraju K.U., Pradhan K., Mende C., Taranda J., Turaga S.C., Arganda-Carreras I., Ng L., Hawrylycz M.J., Rockland K.S., Seung H.S., Osten P. Mapping social behavior-induced brain activation at cellular resolution in the mouse. Cell Rep. 10, 292-305 (2015) PubMed

Krishnan K., Wang B.S., Lu J., Wang L., Maffei A., Cang J., Huang Z.J. MeCP2 regulates the timing of critical period plasticity that shapes functional connectivity in primary visual cortex. Proc. Natl. Acad. Sci. USA Epub ahead of print (2015) PubMed

Lammel S., Steinberg E.E., Földy C., Wall N.R., Beier K., Luo L., Malenka R.C. Diversity of transgenic mouse models for selective targeting of midbrain dopamine neurons. Neuron 85, 429-438 (2015) PubMed

Lin G.N., Corominas R., Lemmens I., Yang X., Tavernier J., Hill D.E., Vidal M., Sebat J., Iakoucheva L.M. Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases. Neuron 85, 742-754 (2015) PubMed

Macosko E.Z., Basu A., Satija R., Nemesh J., Shekhar K., Goldman M., Tirosh I., Bialas A.R., Kamitaki N., Martersteck E.M., Trombetta J.J., Weitz D.A., Sanes J.R., Shalek A.K., Regev A., McCarroll S.A. Highly parallel genome-wide expression profiling of individual cells using nanoliter droplets. Cell 161, 1202-1214 (2015) PubMed

Maillard A.M., Ruef A., Pizzagalli F., Migliavacca E., Hippolyte L., Adaszewski S., Dukart J., Ferrari C., Conus P., Männik K., Zazhytska M., Siffredi V., Maeder P., Kutalik Z., Kherif F., Hadjikhani N., 16p11.2 European Consortium, Beckmann J.S., Reymond A., Draganski B., Jacquemont S. The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. Mol. Psychiatry 20, 140-147 (2015) PubMed

Männik K., Mägi R., Macé A., Cole B., Guyatt A.L., Shihab H.A., Maillard A.M., Alavere H., Kolk A., Reigo A., Mihailov E., Leitsalu L., Ferreira A.M., Nõukas M., Teumer A., Salvi E., Cusi D., McGue M., Iacono W.G., Gaunt T.R., Beckmann J.S., Jacquemont S., Kutalik Z., Pankratz N., Timpson N., Metspalu A., Reymond A. Copy number variations and cognitive phenotypes in unselected populations. JAMA 313, 2044-2054 (2015) PubMed

Mervis C.B., Klein-Tasman B.P., Huffman M.J., Velleman S.L., Pitts C.H., Henderson D.R., Woodruff-Borden J., Morris C.A., Osborne L.R. Children with 7q11.23 duplication syndrome: Psychological characteristics. Am. J. Med. Genet. A Epub ahead of print (2015) PubMed

Niedringhaus M., Dumitru R., Mabb A.M., Wang Y., Philpot B.D., Allbritton N.L., Taylor A.M. Transferable neuronal mini-cultures to accelerate screening in primary and induced pluripotent stem cell-derived neurons. Sci. Rep. 5, 8353 (2015) PubMed

Messinger D.S., Young G.S., Webb S.J., Ozonoff S., Bryson S.E., Carter A., Carver L., Charman T., Chawarska K., Curtin S., Dobkins K., Hertz-Picciotto I., Hutman T., Iverson J.M., Landa R., Nelson C.A., Stone W.L., Tager-Flusberg H., Zwaigenbaum L. Early sex differences are not autism-specific: A Baby Siblings Research Consortium (BSRC) study. Mol. Autism 6, 32 (2015) PubMed

Nelson C.A., Varcin K.J., Coman N.K., DeVivo I., Tager-Flusberg H. Shortened telomeres in families with a propensity to autism. J. Am. Acad. Child Adolesc. Psychiatry 54, 588-594 (2015) PubMed

Parikshak N.N., Gandal M.J., Geschwind D.H. Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders. Nat. Rev. Genet. 16, 441-458 (2015) PubMed

Peñagarikano O., Lázaro M.T., Lu X.H., Gordon A., Dong H., Lam H.A., Peles E., Maidment N.T., Murphy N.P., Yang X.W., Golshani P., Geschwind D.H. Exogenous and evoked oxytocin restores social behavior in the CNTNAP2 mouse model of autism. Sci. Transl. Med. 7, 271ra278 (2015) PubMed

Pucilowska J., Vithayathil J., Tavares E.J., Kelly C., Karlo J.C., Landreth G.E. The 16p11.2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway. J. Neurosci. 35, 3190-3200 (2015) PubMed

Rosenberg A., Patterson J.S., Angelaki D.E. A computational perspective on autism. Proc. Natl. Acad. Sci. USA 112, 9158-9165 (2015) PubMed

Sampson T.R. and S.K. Mazmanian Control of brain development, function, and behavior by the microbiome. Cell Host Microbe 17, 565-576 (2015) PubMed

Schaer M., Kochalka J., Padmanabhan A., Supekar K., Menon V. Sex differences in cortical volume and gyrification in autism. Mol. Autism 6, 42 (2015) PubMed

Silva-Santos S., van Woerden G.M., Bruinsma C.F., Mientjes E., Jolfaei M.A., Distel B., Kushner S.A., Elgersma Y. UBE3A reinstatement identifies distinct developmental windows in a murine Angelman syndrome model. J. Clin. Invest. Epub ahead of print (2015) PubMed

Steinberg E.E., Christoffel D.J., Deisseroth K., Malenka R.C. Illuminating circuitry relevant to psychiatric disorders with optogenetics. Curr. Opin. Neurobiol. 30, 9-16 (2015) PubMed

Strong E., Butcher D.T., Singhania R., Mervis C.B., Morris C.A., De Carvalho D., Weksberg R., Osborne L.R. Symmetrical dose-dependent DNA-methylation profiles in children with deletion or duplication of 7q11.23. Am. J. Hum. Genet. Epub ahead of print (2015) PubMed

Swiech L., Heidenreich M., Banerjee A., Habib N., Li Y., Trombetta J., Sur M., Zhang F. In vivo interrogation of gene function in the mammalian brain using CRISPR-Cas9. Nat. Biotechnol. 33, 102-106 (2015) PubMed

Talbott M.R., Nelson C.A., Tager-Flusberg H. Maternal gesture use and language development in infant siblings of children with autism spectrum disorder. J. Autism Dev. Disord. 45, 4-14 (2015) PubMed

Tian D., Stoppel L.J., Heynen A.J., Lindemann L., Jaeschke G., Mills A.A., Bear M.F. Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion. Nat. Neurosci. 18, 182-184 (2015) PubMed

Vorstman J.A., Breetvelt E.J., Duijff S.N., Eliez S., Schneider M., Jalbrzikowski M., Armando M., Vicari S., Shashi V., Hooper S.R., Chow E.W., Fung W.L., Butcher N.J., Young D.A., McDonald-McGinn D.M., Vogels A., van Amelsvoort T., Gothelf D., Weinberger R., Weizman A., Klaassen P.W., Koops S., Kates W.R., Antshel K.M., Simon T.J., Ousley O.Y., Swillen A., Gur R.E., Bearden C.E., Kahn R.S., Bassett A.S., International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome. JAMA Psychiatry 72, 377-385 (2015) PubMed

Weir R.K., Forghany R., Smith S.E., Patterson P.H., McAllister A.K., Schumann C.M., Bauman M.D. Preliminary evidence of neuropathology in nonhuman primates prenatally exposed to maternal immune activation. Brain Behav. Immun. 48, 139-146 (2015) PubMed

Willsey A.J. and M.W. State Autism spectrum disorders: From genes to neurobiology. Curr. Opin. Neurobiol. 30, 92-99 (2015) PubMed

Yan Q., Weyn-Vanhentenryck S.M., Wu J., Sloan S.A., Zhang Y., Chen K., Wu J.Q., Barres B.A., Zhang C. Systematic discovery of regulated and conserved alternative exons in the mammalian brain reveals nmd modulating chromatin regulators. Proc. Natl. Acad. Sci. USA 112, 3445-3450 (2015) PubMed

Yang M., Lewis F., Foley G., Crawley J.N. In tribute to Bob Blanchard: Divergent behavioral phenotypes of 16p11.2 deletion mice reared in same-genotype versus mixed-genotype cages. Physiol. Behav. Epub ahead of print (2015) PubMed

Yang M., Mahrt E.J., Lewis F., Foley G., Portmann T., Dolmetsch R.E., Portfors C.V., Crawley J.N. 16p11.2 deletion syndrome mice display sensory and ultrasonic vocalization deficits during social interactions. Autism Res. Epub ahead of print (2015) PubMed

Zaidel A., Goin-Kochel R.P., Angelaki D.E. Self-motion perception in autism is compromised by visual noise but integrated optimally across multiple senses. Proc. Natl. Acad. Sci. USA 112, 6461-6466 (2015) PubMed

Zhang B., Chen L.Y., Liu X., Maxeiner S., Lee S.J., Gokce O., Südhof T.C. Neuroligins sculpt cerebellar Purkinje-cell circuits by differential control of distinct classes of synapses. Neuron 87, 781-796 (2015) PubMed

SSC (2015)

Aldinger K.A., Lane C.J., Veenstra-VanderWeele J., Levitt P. Patterns of risk for multiple co-occurring medical conditions replicate across distinct cohorts of children with autism spectrum disorder. Autism Res. Epub ahead of print (2015) PubMed

Bal V.H. and C. Lord Replication of standardized ADOS domain scores in the Simons Simplex Collection. Autism Res. Epub ahead of print (2015) PubMed

Brand H., Collins R.L., Hanscom C., Rosenfeld J.A., Pillalamarri V., Stone M.R., Kelley F., Mason T., Margolin L., Eggert S., Mitchell E., Hodge J.C., Gusella J.F., Sanders S.J., Talkowski M.E. Paired-duplication signatures mark cryptic inversions and other complex structural variation. Am. J. Hum. Genet. (2015) Epub ahead of print PubMed

Desachy G., Croen L.A., Torres A.R., Kharrazi M., Delorenze G.N., Windham G.C., Yoshida C.K., Weiss L.A. Increased female autosomal burden of rare copy number variants in human populations and in autism families. Mol. Psychiatry 20, 170-175 (2015) PubMed

Duncan A.W. and S.L. Bishop Understanding the gap between cognitive abilities and daily living skills in adolescents with autism spectrum disorders with average intelligence. Autism 19, 64-72 (2015) PubMed

Fischbach R.L., Harris M.J., Ballan M.S., Fischbach G.D., Link B.G. Is there concordance in attitudes and beliefs between parents and scientists about autism spectrum disorder? Autism Epub ahead of print (2015) PubMed

Foster N.E., Doyle-Thomas K.A., Tryfon A., Ouimet T., Anagnostou E., Evans A.C., Zwaigenbaum L., Lerch J.P., Lewis J.D., Hyde K.L., NeuroDevNet ASD imaging group. Structural gray matter differences during childhood development in autism spectrum disorder: A multimetric approach. Pediatr. Neurol. Epub ahead of print (2015) PubMed

Gockley J., Willsey A.J., Dong S., Dougherty J.D., Constantino J.N., Sanders S.J. The female protective effect in autism spectrum disorder is not mediated by a single genetic locus. Mol. Autism 6, 25 (2015) PubMed

Griswold A.J., Dueker N.D., Van Booven D., Rantus J.A., Jaworski J.M., Slifer S.H., Schmidt M.A., Hulme W., Konidari I., Whitehead P.L., Cuccaro M.L., Martin E.R., Haines J.L., Gilbert J.R., Hussman J.P., Pericak-Vance M.A. Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants. Mol. Autism 6, 43 (2015) PubMed

Howe Y.J., O'Rourke J.A., Yatchmink Y., Viscidi E.W., Jones R.N., Morrow E.M. Female autism phenotypes investigated at different levels of language and developmental abilities. J. Autism Dev. Disord. Epub ahead of print (2015) PubMed

Krumm N., Turner T.N., Baker C., Vives L., Mohajeri K., Witherspoon K., Raja A., Coe B.P., Stessman H.A., He Z.X., Leal S.M., Bernier R., Eichler E.E. Excess of rare, inherited truncating mutations in autism. Nat. Genet. 47, 582-588 (2015) PubMed

Mariani J., Coppola G., Zhang P., Abyzov A., Provini L., Tomasini L., Amenduni M., Szekely A., Palejev D., Wilson M., Gerstein M., Grigorenko E.L., Chawarska K., Pelphrey K.A., Howe J.R., Vaccarino F.M. FOXG1-dependent dysregulation of GABA/glutamate neuron differentiation in autism spectrum disorders. Cell 162, 375-390 (2015) PubMed

Mazina V., Gerdts J., Trinh S., Ankenman K., Ward T., Dennis M.Y., Girirajan S., Eichler E.E., Bernier R. Epigenetics of autism-related impairment: Copy number variation and maternal infection. J. Dev. Behav. Pediatr. 36, 61-67 (2015) PubMed

Murdoch J.D., Gupta A.R., Sanders S.J., Walker M.F., Keaney J., Fernandez T.V., Murtha M.T., Anyanwu S., Ober G.T., Raubeson M.J., DiLullo N.M., Villa N., Waqar Z., Sullivan C., Gonzalez L., Willsey A.J., Choe S.Y., Neale B.M., Daly M.J., State M.W. No evidence for association of autism with rare heterozygous point mutations in contactin-associated protein-like 2 (CNTNAP2), or in other contactin-associated proteins or contactins. PLoS Genet. 11, e1004852 (2015) PubMed

Turner T.N., Sharma K., Oh E.C., Liu Y.P., Collins R.L., Sosa M.X., Auer D.R., Brand H., Sanders S.J., Moreno-De-Luca D., Pihur V., Plona T., Pike K., Soppet D.R., Smith M.W., Cheung S.W., Martin C.L., State M.W., Talkowski M.E., Cook E., Huganir R., Katsanis N., Chakravarti A. Loss of delta-catenin function in severe autism. Nature Epub ahead of print (2015) PubMed

van Bon B.W., Coe B.P., Bernier R., Green C., Gerdts J., Witherspoon K., Kleefstra T., Willemsen M.H., Kumar R., Bosco P., Fichera M., Li D., Amaral D., Cristofoli F., Peeters H., Haan E., Romano C., Mefford H.C., Scheffer I., Gecz J., de Vries B.B., Eichler E.E. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Mol. Psychiatry Epub ahead of print (2015) PubMed

Simons VIP (2015)

Bernier R., Steinman K.J., Reilly B., Wallace A.S., Sherr E.H., Pojman N., Mefford H.C., Gerdts J., Earl R., Hanson E., Goin-Kochel R.P., Berry L., Kanne S., Snyder L.G., Spence S., Ramocki M.B., Evans D.W., Spiro J.E., Martin C.L., Ledbetter D.H., Chung W.K. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet. Med. Epub ahead of print (2015) PubMed

Duyzend M.H. and E.E. Eichler Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism." Biol. Psychiatry 77, 769-771 (2015) PubMed

Fedorenko E., Morgan A., Murray E., Cardinaux A., Mei C., Tager-Flusberg H., Fisher S.E., Kanwisher N. A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. Eur. J. Hum. Genet. Epub ahead of print (2015) PubMed

Hanson E., Bernier R., Porche K., Jackson F.I., Goin-Kochel R.P., Snyder L.G., Snow A.V., Wallace A.S., Campe K.L., Zhang Y., Chen Q., D'Angelo D., Moreno-De-Luca A., Orr P.T., Boomer K.B., Evans D.W., Kanne S., Berry L., Miller F.K., Olson J., Sherr E., Martin C.L., Ledbetter D.H., Spiro J.E., Chung W.K., Simons Variation in Individuals Project Consortium. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. Biol Psychiatry 77, 785-793 (2015) PubMed

Hudac C.M., Kresse A., Aaronson B., DesChamps T.D., Webb S.J., Bernier R.A. Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications. J. Neurodev. Disord. 7, 25 (2015) PubMed

Jenkins J. 3rd, Chow V., Blaskey L., Kuschner E., Qasmieh S., Gaetz L., Edgar J.C., Mukherjee P., Buckner R., Nagarajan S.S., Chung W.K., Spiro J.E., Sherr E.H., Berman J.I., Roberts T.P. Auditory evoked M100 response latency is delayed in children with 16p11.2 deletion but not 16p11.2 duplication. Cereb. Cortex Epub ahead of print (2015) PubMed

Migliavacca E., Golzio C., Männik K., Blumenthal I., Oh E.C., Harewood L., Kosmicki J.A., Loviglio M.N., Giannuzzi G., Hippolyte L., Maillard A.M., Alfaiz A.A., 16p11.2 European Consortium, van Haelst M.M., Andrieux J., Gusella J.F., Daly M.J., Beckmann J.S., Jacquemont S., Talkowski M.E., Katsanis N., Reymond A. A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology. Am. J. Hum. Genet. Epub ahead of print (2015) PubMed

Moreno-De-Luca A., Evans D.W., Boomer K.B., Hanson E., Bernier R., Goin-Kochel R.P., Myers S.M., Challman T.D., Moreno-De-Luca D., Slane M.M., Hare A.E., Chung W.K., Spiro J.E., Faucett W.A., Martin C.L., Ledbetter D.H. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. JAMA Psychiatry 72, 119-126 (2015) PubMed

Yi J.J., Berrios J., Newbern J.M., Snider W.D., Philpot B.D., Hahn K.M., Zylka M.J. An autism-linked mutation disables phosphorylation control of UBE3A. Cell 162, 795-807 (2015) PubMed

2014

Abramian A.M., Comenencia-Ortiz E., Modgil A., Vien T.N., Nakamura Y., Moore Y.E., Maguire J.L., Terunuma M., Davies P.A., Moss S.J. Neurosteroids promote phosphorylation and membrane insertion of extrasynaptic GABAA receptors. Proc. Natl. Acad. Sci. USA 111, 7132-7137 (2014) PubMed

Adviento B., Corbin I.L., Widjaja F., Desachy G., Enrique N., Rosser T., Risi S., Marco E.J., Hendren R.L., Bearden C.E., Rauen K.A., Weiss L.A. Autism traits in the RASopathies. J. Med. Genet. 51, 10-20 (2014) PubMed

Allsop S.A., Vander Weele C.M., Wichmann R., Tye K.M. Optogenetic insights on the relationship between anxiety-related behaviors and social deficits. Front. Behav. Neurosci. 8, 241 (2014) PubMed

Amiri A., Sanchez-Ortiz E., Cho W., Birnbaum S.G., Xu J., McKay R.M., Parada L.F. Analysis of FMR1 deletion in a subpopulation of post-mitotic neurons in mouse cortex and hippocampus. Autism Res. 7, 60-71 (2014) PubMed

Banerjee S., Riordan M., Bhat M.A. Genetic aspects of autism spectrum disorders: Insights from animal models. Front. Cell Neurosci. 8, 58 (2014) PubMed

Bauman M.D., Iosif A.M., Smith S.E., Bregere C., Amaral D.G., Patterson P.H. Activation of the maternal immune system during pregnancy alters behavioral development of rhesus monkey offspring. Biol. Psychiatry 75, 332-341 (2014) PubMed

Bent S., Hendren R.L., Zandi T., Law K., Choi J.E., Widjaja F., Kalb L., Nestle J., Law P. Internet-based, randomized, controlled trial of omega-3 fatty acids for hyperactivity in autism. J. Am. Acad. Child Adolesc. Psychiatry 53, 658-666 (2014) PubMed

Bernier R., Golzio C., Xiong B., Stessman H.A., Coe B.P., Penn O., Witherspoon K., Gerdts J., Baker C., Vulto-van Silfhout A.T., Schuurs-Hoeijmakers J.H., Fichera M., Bosco P., Buono S., Alberti A., Failla P., Peeters H., Steyaert J., Vissers L.E., Francescatto L., Mefford H.C., Rosenfeld J.A., Bakken T., O’Roak B.J., Pawlus M., Moon R., Shendure J., Amaral D.G., Lein E., Rankin J., Romano C., de Vries B.B., Katsanis N., Eichler E.E. Disruptive CHD8 mutations define a subtype of autism early in development. Cell 158, 263-276 (2014) PubMed

Bilimoria P.M. and B. Stevens Microglia function during brain development: New insights from animal models. Brain Res. Epub ahead of print (2014) PubMed

Blumenthal I, Ragavendran A., Erdin S., Klei L., Sugathan A., Guide J.R., Manavalan P., Zhou J.Q., Wheeler V.C., Levin J.Z., Ernst C., Roeder K., Devlin B., Gusella J.F., Talkowski M.E. Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. Am. J. Hum. Genet. 94, 870-883 (2014) PubMed

Brand H., Pillalamarri V., Collins R.L., Eggert S., O'Dushlaine C., Braaten E.B., Stone M.R., Chambert K., Doty N.D., Hanscom C., Rosenfeld J.A., Ditmars H., Blais J., Mills R., Lee C., Gusella J.F., McCarroll S., Smoller J.W., Talkowski M.E., Doyle A.E. Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. Am. J. Hum. Genet. 95, 454-461 (2014) PubMed

Bridgman M.W., Brown W.S., Spezio M.L., Leonard M.K., Adolphs R., Paul L.K. Facial emotion recognition in agenesis of the corpus callosum. J. Neurodev. Disord. 6, 32 (2014) PubMed

Brooks S.S., Wall A.L., Golzio C., Reid D.W., Kondyles A., Willer J.R., Botti C., Nicchitta C.V., Katsanis N., Davis E.E. A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. Genetics 198, 723-733 (2014) PubMed

Carcea I., Patil S.B., Robison A.J., Mesias R., Huntsman M.M., Froemke R.C., Buxbaum J.D., Huntley G.W., Benson D.L. Maturation of cortical circuits requires semaphorin 7A. Proc. Natl. Acad. Sci. USA 111, 13978-13983 (2014) PubMed

Carvalho C.M., Vasanth S., Shinawi M., Russell C., Ramocki M.B., Brown C.W., Graakjaer J., Skytte A.B., Vianna-Morgante A.M., Krepischi A.C., Patel G.S., Immken L., Aleck K., Lim C., Cheung S.W., Rosenberg C., Katsanis N., Lupski J.R. Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am. J. Hum. Genet. 95, 565-578 (2014) PubMed

Castro J., Garcia R.I., Kwok S., Banerjee A., Petravicz J., Woodson J., Mellios N., Tropea D., Sur M. Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome. Proc. Natl. Acad. Sci. USA 111, 9941-9946 (2014) PubMed

Corominas R., Yang X., Lin G.N., Kang S., Shen Y., Ghamsari L., Broly M., Rodriguez M., Tam S., Trigg S.A., Fan C., Yi S., Tasan M., Lemmens I., Kuang X., Zhao N., Malhotra D., Michaelson J.J., Vacic V., Calderwood M.A., Roth F.P., Tavernier J., Horvath S., Salehi-Ashtiani K., Korkin D., Sebat J., Hill D.E., Hao T., Vidal M., Iakoucheva L.M. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Nat. Commun. 5, 3650 (2014) PubMed

Dawlaty M.M., Breiling A., Le T., Barrasa M.I., Raddatz G., Gao Q., Powell B.E., Cheng A.W., Faull K.F., Lyko F., Jaenisch R. Loss of Tet enzymes compromises proper differentiation of embryonic stem cells. Dev. Cell 29, 102-111 (2014) PubMed

Deisseroth K. Circuit dynamics of adaptive and maladaptive behaviour. Nature 505, 309-317 (2014) PubMed

Deriziotis P., O'Roak B.J., Graham S.A., Estruch S.B., Dimitropoulou D., Bernier R.A., Gerdts J., Shendure J., Eichler E.E., Fisher S.E. De novo TBR1 mutations in sporadic autism disrupt protein functions. Nat. Commun. 5, 4954 (2014) PubMed

Duda M., Kosmicki J.A., Wall D.P. Testing the accuracy of an observation-based classifier for rapid detection of autism risk. Transl. Psychiatry 4, e424 (2014) PubMed

Di Martino A., Yan C.G., Li Q., Denio E., Castellanos F.X., Alaerts K., Anderson J.S., Assaf M., Bookheimer S.Y., Dapretto M., Deen B., Delmonte S., Dinstein I., Ertl-Wagner B., Fair D.A., Gallagher L., Kennedy D.P., Keown C.L., Keysers C., Lainhart J.E., Lord C., Luna B., Menon V., Minshew N.J., Monk C.S., Mueller S., Müller R.A., Nebel M.B., Nigg J.T., O'Hearn K., Pelphrey K.A., Peltier S.J., Rudie J.D., Sunaert S., Thioux M., Tyszka J.M., Uddin L.Q., Verhoeven J.S., Wenderoth N., Wiggins J.L., Mostofsky S.H., Milham M.P. The autism brain imaging data exchange: Towards a large-scale evaluation of the intrinsic brain architecture in autism. Mol. Psychiatry 19, 659-667 (2014) PubMed

Filiano A.J., Gadani S.P., Kipnis J. Interactions of innate and adaptive immunity in brain development and function. Brain Res. Epub ahead of print (2014) PubMed

Fischer J., Koldewyn K., Jiang Y.V., Kanwisher N. Unimpaired attentional disengagement and social orienting in children with autism. Clin. Psychol. Sci. 2, 214-223 (2014) PubMed

Frazier T.W., Georgiades S., Bishop S.L., Hardan A.Y. Behavioral and cognitive characteristics of females and males with autism in the Simons Simplex Collection. J. Am. Acad. Child Adolesc. Psychiatry 53, 329-340 (2014)PubMed

Fusaro V.A., Daniels J., Duda M., DeLuca T.F., D’Angelo O., Tamburello J., Maniscalco J., Wall D.P. The potential of accelerating early detection of autism through content analysis of YouTube videos. PLoS One 9, e93533 (2014) PubMed

Gao P., Postiglione M.P., Krieger T.G., Hernandez L., Wang C., Han Z., Streicher C., Papusheva E., Insolera R., Chugh K., Kodish O., Huang K., Simons B.D., Luo L., Hippenmeyer S., Shi S.H. Deterministic progenitor behavior and unitary production of neurons in the neocortex. Cell 159, 775-788 (2014) PubMed

Gao Z., Lee P., Stafford J.M., von Schimmelmann M., Schaefer A., Reinberg D. An AUTS2-polycomb complex activates gene expression in the CNS. Nature 516, 349-354 (2014) PubMed

Gerber A., Morrow E., Sheinkopf S.J., Anders T. The Rhode Island Consortium for Autism Research and Treatment (RI-CART): A new statewide autism collaborative. R. I. Med. J. (2013) 97, 31-34 (2014) PubMed

Gross C. and G.J. Bassell Neuron-specific regulation of class I PI3K catalytic subunits and their dysfunction in brain disorders. Front. Mol. Neurosci. 7, 12 (2014) PubMed

Gunaydin L.A. and K. Deisseroth Dopaminergic dynamics contributing to social behavior. Cold Spring Harb. Symp. Quant. Biol. 79, 221-227 (2014) PubMed

Gunaydin L.A., Grosenick L., Finkelstein J.C., Kauvar I.V., Fenno L.E., Adhikari A., Lammel S., Mirzabekov J.J., Airan R.D., Zalocusky K.A., Tye K.M., Anikeeva P., Malenka R.C., Deisseroth K. Natural neural projection dynamics underlying social behavior. Cell 157, 1535-1551 (2014) PubMed

Guo J.U., Su Y., Shin J.H., Shin J., Li H., Xie B., Zhong C., Hu S., Le T., Fan G., Zhu H., Chang Q., Gao Y., Ming G.L., Song H. Distribution, recognition and regulation of non-CpG methylation in the adult mammalian brain.Nat. Neurosci. 17, 215-22 (2014) PubMed

Guo J.U., Szulwach K.E., Su Y., Li Y., Yao B., Xu Z., Shin J.H., Xie B., Gao Y., Ming G.L., Jin P., Song H. Genome-wide antagonism between 5-hydroxymethylcytosine and DNA methylation in the adult mouse brain. Front. Biol. (Beijing) 9, 66-74 (2014) PubMed

Gupta A.R., Pirruccello M., Cheng F., Kang H.J., Fernandez T.V., Baskin J.M., Choi M., Liu L., Ercan-Sencicek A.G., Murdoch J.D., Klei L., Neale B.M., Franjic D., Daly M.J., Lifton R.P., De Camilli P., Zhao H., Šestan N., State M.W. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Mol. Autism 5, 31 (2014) PubMed

Gupta S., Ellis S.E., Ashar F.N., Moes A., Bader J.S., Zhan J., West A.B., Arking D.E. Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism. Nat. Commun. 5, 5748 (2014) PubMed

Haar S., Berman S., Behrmann M., Dinstein I. Anatomical abnormalities in autism? Cereb. Cortex Epub ahead of print (2014) PubMed

Haigh S.M., Heeger D.J., Dinstein I., Minshew N., Behrmann M. Cortical variability in the sensory-evoked response in autism. J. Autism Dev. Disord. Epub ahead of print (2014) PubMed

Han S., Tai C., Jones C.J., Scheuer T., Catterall W.A. Enhancement of inhibitory neurotransmission by GABAA receptors having alpha2,3-subunits ameliorates behavioral deficits in a mouse model of autism. Neuron 81, 1282-1289 (2014) PubMed

He Q., Nomura T., Xu J., Contractor A. The developmental switch in GABA polarity is delayed in fragile X mice. J. Neurosci. 34, 446-450 (2014) PubMed

Helsmoortel C., Vulto-van Silfhout A.T., Coe B.P., Vandeweyer G., Rooms L., van den Ende J., Schuurs-Hoeijmakers J.H., Marcelis C.L., Willemsen M.H., Vissers L.E., Yntema H.G., Bakshi M., Wilson M., Witherspoon K.T., Malmgren H., Nordgren A., Annerén G., Fichera M., Bosco P., Romano C., de Vries B.B., Kleefstra T., Kooy R.F., Eichler E.E., Van der Aa N. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat. Genet. 46, 380-384 (2014) PubMed

Huang H.S., Yoon B.J., Brooks S., Bakal R., Berrios J., Larsen R.S., Wallace M.L., Han J.E., Chung E.H., Zylka M.J., Philpot B.D. Snx14 regulates neuronal excitability, promotes synaptic transmission, and is imprinted in the brain of mice. PLoS One 9, e98383 (2014) PubMed

Irier H., Street R.C., Dave R., Lin L., Cai C., Davis T.H., Yao B., Cheng Y., Jin P. Environmental enrichment modulates 5-hydroxymethylcytosine dynamics in hippocampus. Genomics 104, 376-382 (2014) PubMed

Irimia M., Weatheritt R.J., Ellis J.D., Parikshak N.N., Gonatopoulos-Pournatzis T., Babor M., Quesnel-Vallières M., Tapial J., Raj B., O'Hanlon D., Barrios-Rodiles M., Sternberg M.J., Cordes S.P., Roth F.P., Wrana J.L., Geschwind D.H., Blencowe B.J. A highly conserved program of neuronal microexons is misregulated in autistic brains. Cell 159, 1511-1523 (2014) PubMed

Karayannis T., Au E., Patel J.C., Kruglikov I., Markx S., Delorme R., Héron D., Salomon D., Glessner J., Restituito S., Gordon A., Rodriguez-Murillo L., Roy N.C., Gogos J.A., Rudy B., Rice M.E., Karayiorgou M., Hakonarson H., Keren B., Huguet G., Bourgeron T., Hoeffer C., Tsien R.W., Peles E., Fishell G. CNTNAP4 differentially contributes to GABAergic and dopaminergic synaptic transmission. Nature 511, 236-240 (2014) PubMed

Kennedy D.P. and R. Adolphs Violations of personal space by individuals with autism spectrum disorder. PLoS One 9, e103369 (2014) PubMed

Khwaja O.S., Ho E., Barnes K.V., O'Leary H.M., Pereira L.M., Finkelstein Y., Nelson C.A. 3rd, Vogel-Farley V., DeGregorio G., Holm I.A., Khatwa U., Kapur K., Alexander M.E., Finnegan D.M., Cantwell N.G., Walco A.C., Rappaport L., Gregas M., Fichorova R.N., Shannon M.W., Sur M., Kaufmann W.E. Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome. Proc. Natl. Acad. Sci. USA 111, 4596-4601 (2014) PubMed

Kircher M., Witten D.M., Jain P., O'Roak B.J., Cooper G.M., Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat. Genet. 46, 310-315 (2014) PubMed

Kong S.W., Sahin M., Collins C.D., Wertz M.H., Campbell M.G., Leech J.D., Krueger D., Bear M.F., Kunkel L.M., Kohane I.S. Divergent dysregulation of gene expression in murine models of fragile x syndrome and tuberous sclerosis. Mol. Autism 5, 16 (2014) PubMed

Law R., Dixon-Salazar T., Jerber J., Cai N., Abbasi A.A., Zaki M.S., Mittal K., Gabriel S.B., Rafiq M.A., Khan V., Nguyen M., Ali G., Copeland B., Scott E., Vasli N., Mikhailov A., Khan M.N., Andrade D.M., Ayaz M., Ansar M., Ayub M., Vincent J.B., Gleeson J.G. Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein formin 2, cause nonsyndromic autosomal-recessive intellectual disability. Am. J. Hum. Genet. 95, 721-728 (2014) PubMed

Levy D. and M. Wigler Facilitated sequence counting and assembly by template mutagenesis. Proc. Natl. Acad. Sci. USA 111, E4632-4637 (2014) PubMed

Liu L., Lei J., Sanders S.J., Willsey A.J., Kou Y., Cicek A.E., Klei L., Lu C., He X., Li M., Muhle R.A., Ma'ayan A., Noonan J.P., Sestan N., McFadden K.A., State M.W., Buxbaum J.D., Devlin B., Roeder K. DAWN: A framework to identify autism genes and subnetworks using gene expression and genetics. Mol. Autism 5, 22 (2014) PubMed

Lloyd-Fox S., Richards J.E., Blasi A., Murphy D.G., Elwell C.E., Johnson M.H. Coregistering functional near-infrared spectroscopy with underlying cortical areas in infants. Neurophotonics 1, 025006 (2014) PubMed

Luyster R.J., Powell C., Tager-Flusberg H., Nelson C.A. Neural measures of social attention across the first years of life: Characterizing typical development and markers of autism risk. Dev. Cogn. Neurosci. 8, 131-143 (2014) PubMed

Mabb A.M., Kullmann P.H., Twomey M.A., Miriyala J., Philpot B.D., Zylka M.J. Topoisomerase 1 inhibition reversibly impairs synaptic function. Proc. Natl. Acad. Sci. USA 111, 17290-17295 (2014) PubMed

Machado C.J., Whitaker A.M., Smith S.E., Patterson P.H., Bauman M.D. Maternal immune activation in nonhuman primates alters social attention in juvenile offspring. Biol. Psychiatry Epub ahead of print (2014) PubMed

Manzini M.C., Xiong L., Shaheen R., Tambunan D.E., Di Costanzo S., Mitisalis V., Tischfield D.J., Cinquino A., Ghaziuddin M., Christian M., Jiang Q., Laurent S., Nanjiani Z.A., Rasheed S., Hill R.S., Lizarraga S.B., Gleason D., Sabbagh D., Salih M.A., Alkuraya F.S., Walsh C.A. CC2D1A regulates human intellectual and social function as well as NF-kappaB signaling homeostasis. Cell Rep. 8, 647-655 (2014) PubMed

Mayer E.A., Knight R., Mazmanian S.K., Cryan J.F., Tillisch K. Gut microbes and the brain: Paradigm shift in neuroscience. J. Neurosci. 34, 15490-15496 (2014) PubMed

Mellios N., Woodson J., Garcia R.I., Crawford B., Sharma J., Sheridan S.D., Haggarty S.J., Sur M. Beta2-adrenergic receptor agonist ameliorates phenotypes and corrects microRNA-mediated IGF1 deficits in a mouse model of Rett syndrome. Proc. Natl. Acad. Sci. USA 111, 9947-9952 (2014) PubMed

Milekic M.H., Xin Y., O'Donnell A., Kumar K.K., Bradley-Moore M., Malaspina D., Moore H., Brunner D., Ge Y., Edwards J., Paul S., Haghighi F.G., Gingrich J.A. Age-related sperm DNA methylation changes are transmitted to offspring and associated with abnormal behavior and dysregulated gene expression. Mol. Psychiatry Epub ahead of print (2014) PubMed

Moore M.J., Zhang C., Gantman E.C., Mele A., Darnell J.C., Darnell R.B. Mapping Argonaute and conventional RNA-binding protein interactions with RNA at single-nucleotide resolution using HITS-CLIP and CIMS analysis. Nat. Protoc. 9, 263-293 (2014) PubMed

O'Connor E.C., Bariselli S., Bellone C. Synaptic basis of social dysfunction: A focus on postsynaptic proteins linking group-I mGluRs with AMPARs and NMDARs. Eur. J. Neurosci. 39, 1114-1129 (2014) PubMed

Orosco L.A., Ross A.P., Cates S.L., Scott S.E., Wu D., Sohn J., Pleasure D., Pleasure S.J., Adamopoulos I.E., Zarbalis K.S. Loss of WDFY3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology. Nat Commun. 5, 4692 (2014) PubMed

Parker K.J., Garner J.P., Libove R.A., Hyde S.A., Hornbeak K.B., Carson D.S., Liao C.P., Phillips J.M., Hallmayer J.F., Hardan A.Y. Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder. Proc. Natl. Acad. Sci. USA 111, 12258-12263 (2014) PubMed

Pei F., Baldassi S., Norcia A.M. Electrophysiological measures of low-level vision reveal spatial processing deficits and hemispheric asymmetry in autism spectrum disorder. J. Vis. 14 (2014) PubMed

Picard M., Zhang J., Hancock S., Derbeneva O., Golhar R., Golik P., O'Hearn S., Levy S., Potluri P., Lvova M., Davila A., Lin C.S., Perin J.C., Rappaport E.F., Hakonarson H., Trounce I.A., Procaccio V., Wallace D.C. Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming. Proc. Natl. Acad. Sci. USA 111, E4033-4042 (2014) PubMed

Piochon C., Kloth A.D., Grasselli G., Titley H.K., Nakayama H., Hashimoto K., Wan V., Simmons D.H., Eissa T., Nakatani J., Cherskov A., Miyazaki T., Watanabe M., Takumi T., Kano M., Wang S.S., Hansel C. Cerebellar plasticity and motor learning deficits in a copy-number variation mouse model of autism. Nat. Commun. 5, 5586 (2014) PubMed

Pitskel N.B., Bolling D.Z., Kaiser M.D., Pelphrey K.A., Crowley M.J. Neural systems for cognitive reappraisal in children and adolescents with autism spectrum disorder. Dev. Cogn. Neurosci. 10, 117-128 (2014) PubMed

Portmann T., Yang M., Mao R., Panagiotakos G., Ellegood J., Dolen G., Bader P.L., Grueter B.A., Goold C., Fisher E., Clifford K., Rengarajan P., Kalikhman D., Loureiro D., Saw N.L., Zhengqui Z., Miller M.A., Lerch J.P., Henkelman R.M., Shamloo M., Malenka R.C., Crawley J.N., Dolmetsch R.E. Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome. Cell Rep. 7, 1077-1092 (2014) PubMed

Purgert C.A., Izumi Y., Jong Y.J., Kumar V., Zorumski C.F., O'Malley K.L. Intracellular mGluR5 can mediate synaptic plasticity in the hippocampus. J. Neurosci. 34, 4589-4598 (2014) PubMed

Qiu S., Lu Z., Levitt P. MET receptor tyrosine kinase controls dendritic complexity, spine morphogenesis, and glutamatergic synapse maturation in the hippocampus. J. Neurosci. 34, 16166-16179 (2014) PubMed

Reinthaler E.M., Lal D., Lebon S., Hildebrand M.S., Dahl H.H., Regan B.M., Feucht M., Steinböck H., Neophytou B., Ronen G.M., Roche L., Gruber-Sedlmayr U., Geldner J., Haberlandt E., Hoffmann P., Herms S., Gieger C., WaldenbergerM., Franke A., Wittig M., Schoch S., Becker A.J., Hahn A., Männik K., Toliat M.R., Winterer G., 16p11.2 European Consortium, Lerche H., Nürnberg P., Mefford H., Scheffer I.E., Berkovic S.F., Beckmann J.S., EPICURE Consortium,EuroEPINOMICS Consortium, Sander T., Jacquemont S., Reymond A., Zimprich F., Neubauer B.A. 16p11.2 600 kb duplications confer risk for typical and atypical rolandic epilepsy. Hum. Mol. Genet. 23, 6069-6080 (2014)PubMed

Robichaux M.A., Chenaux G., Ho H.Y., Soskis M.J., Dravis C., Kwan K.Y., Sestan N., Greenberg M.E., Henkemeyer M., Cowan C.W. EphB receptor forward signaling regulates area-specific reciprocal thalamic and cortical axonpathfinding. Proc. Natl. Acad. Sci. USA 111, 2188-2193 (2014) PubMed

Ronemus M., Iossifov I., Levy D., Wigler M. The role of de novo mutations in the genetics of autism spectrum disorders. Nat. Rev. Genet. 15, 133-141 (2014) PubMed

Rosti R.O., Sadek A.A., Vaux K.K., Gleeson J.G. The genetic landscape of autism spectrum disorders. Dev. Med. Child Neurol. 56,12-18 (2014) PubMed

Rothwell P.E., Fuccillo M.V., Maxeiner S., Hayton S.J., Gokce O., Lim B.K., Fowler S.C., Malenka R.C., Südhof T.C. Autism-associated neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors. Cell 158, 198-212 (2014) PubMed

Schaffer A.E., Eggens V.R., Caglayan A.O., Reuter M.S., Scott E., Coufal N.G., Silhavy J.L., Xue Y., Kayserili H., Yasuno K., Rosti R.O., Abdellateef M., Caglar C., Kasher P.R., Cazemier J.L., Weterman M.A., Cantagrel V., Cai N., Zweier C., Altunoglu U., Satkin N.B., Aktar F., Tuysuz B., Yalcinkaya C., Caksen H., Bilguvar K., Fu X.D., Trotta C.R., Gabriel S., Reis A., Gunel M., Baas F., Gleeson J.G. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell 157, 651-663 (2014) PubMed

Schwede M., Garbett K., Mirnics K., Geschwind D.H., Morrow E.M. Genes for endosomal NHE6 and NHE9 are misregulated in autism brains. Mol. Psvchiatrv 19, 277-279 (2014) PubMed

Sforazzini F., Bertero A., Dodero L., David G., Galbusera A., Scattoni M.L., Pasqualetti M., Gozzi A. Altered functional connectivity networks in acallosal and socially impaired BTBR mice. Brain Struct. Funct. Epub ahead of print (2014) PubMed

Shin J., Ming G.L., Song H. Decoding neural transcriptomes and epigenomes via high-throughput sequencing. Nat. Neurosci. 17, 1463-1475 (2014) PubMed

Shin J., Ming G.L., Song H. DNA modifications in the mammalian brain. Philos. Trans. R. Soc. Lond. B. Biol. Sci. 369 (2014) PubMed

Smith L.N., Jedynak J.P., Fontenot M.R., Hale C.F., Dietz K.C., Taniguchi M., Thomas F.S., Zirlin B.C., Birnbaum S.G., Huber K.M., Thomas M.J., Cowan C.W. Fragile X mental retardation protein regulates synaptic and behavioral plasticity to repeated cocaine administration. Neuron 82, 645-658 (2014) PubMed

Squillace M., Dodero L., Federici M., Migliarini S., Errico F., Napolitano F., Krashia P., Di Maio A., Galbusera A., Bifone A., Scattoni M.L., Pasqualetti M., Mercuri N.B., Usiello A., Gozzi A. Dysfunctional dopaminergic neurotransmission in asocial BTBR mice. Transl. Psychiatry 4, e427 (2014) PubMed

Stevenson R.A., Siemann J.K., Schneider B.C., Eberly H.E., Woynaroski T.G., Camarata S.M., Wallace M.T. Multisensory temporal integration in autism spectrum disorders. J. Neurosci. 34, 691-697 (2014) PubMed

Stevenson R.A., Siemann J.K., Woynaroski T.G., Schneider B.C., Eberly H.E., Camarata S.M., Wallace M.T. Brief report: Arrested development of audiovisual speech perception in autism spectrum disorders. J. Autism Dev. Disord. 44, 1470-1477 (2014) PubMed

Stessman H.A., Bernier R., Eichler E.E. A genotype-first approach to defining the subtypes of a complex disease. Cell 156, 872-877 (2014) PubMed

Stoner R., Chow M.L., Boyle M.P., Sunkin S.M., Mouton P.R., Roy S., Wynshaw-Boris A., Colamarino S.A., Lein E.S., Courchesne E. Patches of disorganization in the neocortex of children with autism. N. Engl. J. Med. 370, 1209-1219 (2014) PubMed

Sugathan A., Biagioli M., Golzio C., Erdin S., Blumenthal I., Manavalan P., Ragavendran A., Brand H., Lucente D., Miles J., Sheridan S.D., Stortchevoi A., Kellis M., Haggarty S.J., Katsanis N., Gusella J.F., Talkowski M.E. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc. Natl. Acad. Sci. USA 111, E4468-E4477 (2014) PubMed

Suliman R., Ben-David E., Shifman S. Chromatin regulators, phenotypic robustness, and autism risk. Front. Genet. 5, 81 (2014) PubMed

Tang G., Gudsnuk K., Kuo S.H., Cotrina M.L., Rosoklija G., Sosunov A., Sonders M.S., Kanter E., Castagna C., Yamamoto A., Yue Z., Arancio O., Peterson B.S., Champagne F., Dwork A.J., Goldman J., Sulzer D. Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits. Neuron 83, 1131-1143 (2014) PubMed

Tyszka J.M., Kennedy D.P., Paul L.K., Adolphs R. Largely typical patterns of resting-state functional connectivity in high-functioning adults with autism. Cereb. Cortex 24, 1894-1905 (2014) PubMed

Tyzio R., Nardou R., Ferrari D.C., Tsintsadze T., Shahrokhi A., Eftekhari S., Khalilov I., Tsintsadze V., Brouchoud C., Chazal G., Lemonnier E., Lozovaya N., Burnashev N., Ben-Ari Y. Oxytocin-mediated GABA inhibition during delivery attenuates autism pathogenesis in rodent offspring. Science 343, 675-679 (2014) PubMed

Vander Wyk B.C., Hoffman F., Pelphrey K.A. Equivalent neural responses in children and adolescents with and without autism during judgments of affect. Dev. Cogn. Neurosci. 8, 121-130 (2014) PubMed

Vandeweyer G., Helsmoortel C., Van Dijck A., Vulto-van Silfhout A.T., Coe B.P., Bernier R., Gerdts J., Rooms L., van den Ende J., Bakshi M., Wilson M., Nordgren A., Hendon L.G., Abdulrahman O.A., Romano C., de Vries B.B., Kleefstra T., Eichler E.E., Van der Aa N., Kooy R.F. The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. Am. J. Med. Genet. C Semin. Med. Genet. 166C, 315-326 (2014) PubMed

Wan Y., Ade K.K., Caffall Z., Ilcim Ozlu M., Eroglu C., Feng G., Calakos N.Circuit-selective striatal synaptic dysfunction in the SAPAP3 knockout mouse model of obsessive-compulsive disorder.Biol. Psychiatry 75, 623-630 (2014) PubMed

Wang S., Tudusciuc O., Mamelak A.N., Ross I.B., Adolphs R., Rutishauser U. Neurons in the human amygdala selective for perceived emotion. Proc. Natl. Acad. Sci. USA 111, E3110-3119 (2014) PubMed

Weyn-Vanhentenryck S.M., Mele A., Yan Q., Sun S., Farny N., Zhang Z., Xue C., Herre M., Silver P.A., Zhang M.Q., Krainer A.R., Darnell R.B., Zhang C. HITS-CLIP and integrative modeling define the RBFOX splicing-regulatory network linked to brain development and autism. Cell Rep. 6, 1139-1152 (2014) PubMed

Wilkerson J.R., Tsai N.P., Maksimova M.A., Wu H., Cabalo N.P., Loerwald K.W., Dictenberg J.B., Gibson J.R., Huber K.M. A role for dendritic mGluR5-mediated local translation of ARC/ARG3.1 in MEF2-dependent synapse elimination. Cell Rep. 7, 1589-1600 (2014) PubMed

Wittkowski K.M., Sonakya V., Bigio B., Tonn M.K., Shic F., Ascano M., Nasca C., Gold-Von Simson G. A novel computational biostatistics approach implies impaired dephosphorylation of growth factor receptors as associated with severity of autism. Transl. Psychiatry 4, e354 (2014) PubMed

Xia F., Bainbridge M.N., Tan T.Y., Wangler M.F., Scheuerle A.E., Zackai E.H., Harr M.H., Sutton V.R., Nalam R.L., Zhu W., Nash M., Ryan M.M., Yaplito-Lee J., Hunter J.V., Deardorff M.A., Penney S.J., Beaudet A.L., Plon S.E., Boerwinkle E.A., Lupski J.R., Eng C.M., Muzny D.M., Yang Y., Gibbs R.A. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am. J. Hum. Genet. 94, 784-789 (2014) PubMed

Yao B. and P. Jin Unlocking epigenetic codes in neurogenesis. Genes Dev. 28, 1253-1271 (2014) PubMed

SSC (2014)

Ackerman S., Wenegrat J., Rettew D., Althoff R., Bernier R. No increase in autism associated genetic events in children conceived by assisted reproductive technology. Fertil. Steril. 102, 388-393 (2014) PubMed

Ankenman K., Elgin J., Sullivan K., Vincent L., Bernier R. Nonverbal and verbal cognitive discrepancy profiles in autism spectrum disorders: Influence of age and gender. Am. J. Intellect. Dev. Disabil. 119, 84-99 (2014) PubMed

Chaste P., Klei L., Sanders S.J., Hus V., Murtha M.T., Lowe J.K., Willsey A.J., Moreno-De-Luca D., Yu T.W., Fombonne E., Geschwind D., Grice D.E., Ledbetter D.H., Mane S.M., Martin D.M., Morrow E.M., Walsh C.A., Sutcliffe J.S., Lese Martin C., Beaudet A.L., Lord C., State M.W., Cook E.H. Jr., Devlin B. A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biol. Psychiatry Epub ahead of print (2014) PubMed

Davidson J., Goin-Kochel R.P., Green-Snyder L.A., Hundley R.J., Warren Z., Peters S.U. 2012. Expression of the broad autism phenotype in simplex autism families from the Simons Simplex Collection. J. Autism Dev. Disord. 44, 2392-2399 (2014) PubMed

Dong S., Walker M.F., Carriero N.J., DiCola M., Willsey A.J., Ye A.Y., Waqar Z., Gonzalez L.E., Overton J.D., Frahm S., Keaney J.F. 3rd, Teran N.A., Dea J., Mandell J.D., Hus Bal V., Sullivan C.A., DiLullo N.M., Khalil R.O., Gockley J., Yuksel Z., Sertel S.M., Ercan-Sencicek A.G., Gupta A.R., Mane S.M., Sheldon M., Brooks A.I., Roeder K., Devlin B., State M.W., Wei L., Sanders S.J. De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. Cell Rep. 9, 16-23 (2014) PubMed

Eicher J.D. and J.R. Gruen Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders. Autism Res. Epub ahead of print (2014) PubMed

Frazier T.W., Georgiades S., Bishop S.L., Hardan A.Y. Behavioral and cognitive characteristics of females and males with autism in the Simons Simplex Collection. J. Am. Acad. Child Adolesc. Psychiatry 53, 329-340 (2014) PubMed

Goin-Kochel, R.P., Esler, A.N., Kanne, S.M., & Hus, V. (2014). Developmental regression among children with autism spectrum disorders: Onset, duration, and effects on functional outcomes. Res. Autism Spectr. Disord. 8, 890-898 (2014) Abstract

He Z., O'Roak B.J., Smith J.D., Wang G., Hooker S., Santos-Cortez R.L., Li B., Kan M., Krumm N., Nickerson D.A., Shendure J., Eichler E.E., Leal S.M. Rare-variant extensions of the transmission disequilibrium test: Application to autism exome sequence data. Am. J. Hum. Genet. 94, 33-46 (2014) PubMed

Iossifov I., O'Roak B.J., Sanders S.J., Ronemus M., Krumm N., Levy D., Stessman H.A., Witherspoon K.T., Vives L., Patterson K.E., Smith J.D., Paeper B., Nickerson D.A., Dea J., Dong S., Gonzalez L.E., Mandell J.D., Mane S.M., Murtha M.T., Sullivan C.A., Walker M.F., Waqar Z., Wei L., Willsey A.J., Yamrom B., Lee Y.H., Grabowska E., Dalkic E., Wang Z., Marks S., Andrews P., Leotta A., Kendall J., Hakker I., Rosenbaum J., Ma B., Rodgers L., Troge J., Narzisi G., Yoon S., Schatz M.C., Ye K., McCombie W.R., Shendure J., Eichler E.E., State M.W., Wigler M. The contribution of de novo coding mutations to autism spectrum disorder. Nature 515, 216-221 (2014) PubMed

Koldewyn K., Yendiki A., Weigelt S., Gweon H., Julian J., Richardson H., Malloy C., Saxe R., Fischl B., Kanwisher N. Differences in the right inferior longitudinal fasciculus but no general disruption of white matter tracts in children with autism spectrum disorder. Proc. Natl. Acad. Sci. USA 111, 1981-1986 (2014) PubMed

Krumm N., O'Roak B.J., Shendure J., Eichler E.E. A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci. 37, 95-105 (2014) PubMed

Mire S.S., Nowell K.P., Kubiszyn T., Goin-Kochel R.P. Psychotropic medication use among children with autism spectrum disorders within the Simons Simplex Collection: Are core features of autism spectrum disorder related? Autism 18, 933-942 (2014) PubMed

Narzisi G., O'Rawe J.A., Iossifov I., Fang H., Lee Y.H., Wang Z., Wu Y., Lyon G.J., Wigler M., Schatz M.C. Accurate de novo and transmitted indel detection in exome-capture data using microassembly. Nat. Methods 11, 1033-1036 (2014) PubMed

Nowell K.P., Brewton C.M., Goin-Kochel R.P. A multi-rater study on being teased among children/adolescents with autism spectrum disorder (ASD) and their typically developing siblings. Focus Autism Other Dev. Disabl. 29, 195-205 (2014) Abstract

O'Roak B.J., Stessman H.A., Boyle E.A., Witherspoon K.T., Martin B., Lee C., Vives L., Baker C., Hiatt J.B., Nickerson D.A., Bernier R., Shendure J., Eichler E.E. Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat. Commun. 5, 5595 (2014) PubMed

Robinson E.B., Samocha K.E., Kosmicki J.A., McGrath L., Neale B.M., Perlis R.H., Daly M.J. Autism spectrum disorder severity reflects the average contribution of de novo and familial influences. Proc. Natl. Acad. Sci. USA 111, 15161-15165 (2014) PubMed

Samocha K.E., Robinson E.B., Sanders S.J., Stevens C., Sabo A., McGrath L.M., Kosmicki J.A., Rehnström K., Mallick S., Kirby A., Wall D.P., MacArthur D.G., Gabriel S.B., DePristo M., Purcell S.M., Palotie A., Boerwinkle E., Buxbaum J.D., Cook E.H. Jr., Gibbs R.A., Schellenberg G.D., Sutcliffe J.S., Devlin B., Roeder K., Neale B.M., Daly M.J. A framework for the interpretation of de novo mutation in human disease. Nat. Genet. 46, 944-950 (2014) PubMed

Stanco A., Pla R., Vogt D., Chen Y., Mandal S., Walker J., Hunt R.F., Lindtner S., Erdman C.A., Pieper A.A., Hamilton S.P., Xu D., Baraban S.C., Rubenstein J.L. NPAS1 represses the generation of specific subtypes of cortical interneurons. Neuron 84, 940-953 (2014) PubMed

Viscidi E.W., Johnson A.L., Spence S.J., Buka S.L., Morrow E.M., Triche E.W. The association between epilepsy and autism symptoms and maladaptive behaviors in children with autism spectrum disorder. Autism 18, 996-1006 (2014) PubMed

Wade J.L., Cox N.B., Reeve R.E., Hull M. Brief report: Impact of child problem behaviors and parental broad autism phenotype traits on substance use among parents of children with ASD. J. Autism Dev. Disord. 44, 2621-2627 (2014) PubMed

Westmark C.J. Soy infant formula and seizures in children with autism: A retrospective study. PLoS One 9, e80488 (2014) PubMed

Yuan H. and J.D. Dougherty Investigation of maternal genotype effects in autism by genome-wide association. Autism Res. 7, 245-253 (2014) PubMed

Simons VIP (2014)

Chaste P., Sanders S.J., Mohan K.N., Klei L., Song Y., Murtha M.T., Hus V., Lowe J.K., Willsey A.J., Moreno-De-Luca D., Yu T.W., Fombonne E., Geschwind D., Grice D.E., Ledbetter D.H., Lord C., Mane S.M., Martin D.M., Morrow E.M., Walsh C.A., Sutcliffe J.S., State M.W., Martin C.L., Devlin B., Beaudet A. L., Cook E.H. Jr., Kim S.J. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Res. 7, 355-362 (2014) PubMed

Gill R., Chen Q., D'Angelo D., Chung W.K. Eating in the absence of hunger but not loss of control behaviors are associated with 16p11.2 deletions. Obesity (Silver Spring) 22, 2625-2631 (2014) PubMed

Jacquemont S., Coe B.P., Hersch M., Duyzend M.H., Krumm N., Bergmann S., Beckmann J.S., Rosenfeld J.A., Eichler E.E. A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. Am. J. Hum. Genet. 94, 415-425 (2014) PubMed

Owen J.P., Chang Y.S., Pojman N.J., Bukshpun P., Wakahiro M.L., Marco E.J., Berman J.I., Spiro J.E., Chung W.K., Buckner R.L., Roberts T.P., Nagarajan S.S., Sherr E.H., Mukherjee P., Simons VIP Consortium Aberrant white matter microstructure in children with 16p11.2 deletions. J. Neurosci. 34, 6214-6223 (2014) PubMed

Qureshi A.Y., Mueller S., Snyder A.Z., Mukherjee P., Berman J.I., Roberts T.P., Nagarajan S.S., Spiro J.E., Chung W.K., Sherr E.H., Buckner R.L. Opposing brain differences in 16p11.2 deletion and duplication carriers. J. Neurosci. 34, 11199-11211 (2014) PubMed

2013

Abrahams B.S., Arking D.E., Campbell D.B., Mefford H.C., Morrow E.M., Weiss L.A., Menashe I., Wadkins T., Banerjee-Basu S., Packer A. SFARI Gene 2.0: A community-driven knowledgebase for the autism spectrum disorders (ASDs). Mol. Autism 4, 36 (2013) PubMed

Akizu N., Cantagrel V., Schroth J., Cai N., Vaux K., McCloskey D., Naviaux R.K., Van Vleet J., Fenstermaker A.G., Silhavy J.L., Scheliga J.S., Toyama K., Morisaki H., Sonmez F.M., Celep F., Oraby A., Zaki M.S., Al-Baradie R., Faqeih E.A., Saleh M.A., Spencer E., Rosti R.O., Scott E., Nickerson E., Gabriel S., Morisaki T., Holmes E.W., Gleeson J.G. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 154, 505-517 (2013) PubMed

Akizu N., Shembesh N.M., Ben-Omran T., Bastaki L., Al-Tawari A., Zaki M.S., Koul R., Spencer E., Rosti R.O., Scott E., Nickerson E., Gabriel S., da Gente G., Li J., Deardorff M.A., Conlin L.K., Horton M.A., Zackai E.H., Sherr E.H., Gleeson J.G. Whole-exome sequencing identifies mutated C12ORF57 in recessive corpus callosum hypoplasia. Am. J. Hum. Genet. 92, 392-400 (2013) PubMed

Baek S.T., Gibbs E.M., Gleeson J.G., Mathern G.W. Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders. Curr. Opin. Neurol. 26, 122-127 (2013) PubMed

Aoto J., Martinelli D.C., Malenka R.C., Tabuchi K., Südhof T.C. Presynaptic neurexin-3 alternative splicing trans-synaptically controls postsynaptic AMPA receptor trafficking. Cell 154, 75-88 (2013) PubMed

Blechman J. and G. Levkowitz Alternative splicing of the pituitary adenylate cyclase-activating polypeptide receptor PAC1: Mechanisms of fine tuning of brain activity. Front. Endocrinol. (Lausanne) 4, 55 (2013) PubMed

Brimberg L., Sadiq A., Gregersen P.K., Diamond B. Brain-reactive lgG correlates with autoimmunity in mothers of a child with an autism spectrum disorder. Mol. Psychiatry 18, 1171-1177 (2013) PubMed

Burguière E., Monteiro P., Feng G., Graybiel A.M. Optogenetic stimulation of lateral orbitofronto-striatal pathway suppresses compulsive behaviors. Science 340, 1243-1246 (2013) PubMed

Carpentier P.A., Haditsch U., Braun A.E., Cantu A.V., Moon H.M., Price R.O., Anderson M.P., Saravanapandian V., Ismail K., Rivera M., Weimann J.M., Palmer T.D. Stereotypical alterations in cortical patterning are associated with maternal illness-induced placental dysfunction. J. Neurosci. 33, 16874-16888 (2013) PubMed

Castro J., Mellios N., Sur M. Mechanisms and therapeutic challenges in autism spectrum disorders: Insights from Rett syndrome. Curr. Opin. Neurol. 26, 154-159 (2013) PubMed

Chanda P., Huang H., Arking D.E., Bader J.S. Fast association tests for genes with FAST. PLoS One 8, e68585 (2013) PubMed

Chen W.V. and T. Maniatis Clustered protocadherins. Development 140, 3297-3302 (2013) PubMed

Chung K. and K. Deisseroth CLARITY for mapping the nervous system. Nat. Methods 10, 508-513 (2013) PubMed

Cross-Disorder Group of the Psychiatric Genomics Consortium Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat. Genet. 45, 984-994 (2013) PubMed

Cross-Disorder Group of the Psychiatric Genomics Consortium Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis. Lancet 381, 1371-1379 (2013) PubMed

Dölen G., Darvishzadeh A., Huang K.W., Malenka R.C. Social reward requires coordinated activity of nucleus accumbens oxytocin and serotonin. Nature 501, 179-184 (2013) PubMed

Ellis S.E., Gupta S., Ashar F.N., Bader J.S., West A.B., Arking D.E. RNA-Seq optimization with eQTL gold standards. BMC Genomics 14, 892 (2013) PubMed

Földy C., Malenka R.C., Südhof T.C. Autism-associated neuroligin-3 mutations commonly disrupt tonic endocannabinoid signaling. Neuron 78, 498-509 (2013) PubMed

Fox S.E., Wagner J.B., Shrock C.L., Tager-Flusberg H., Nelson C.A. Neural processing of facial identity and emotion in infants at high-risk for autism spectrum disorders. Front. Hum. Neurosci. 7, 89 (2013) PubMed

Geschwind D.H. and P. Rakic Cortical evolution: Judge the brain by its cover. Neuron 80, 633-647 (2013) PubMed

Ghanizadeh A., Berk M., Farrashbandi H., Alavi Shoushtari A., Villagonzalo K.A. Targeting the mitochondrial electron transport chain in autism, a systematic review and synthesis of a novel therapeutic approach.Mitochondrion 13, 515-519 (2013) PubMed

Giordano F., Saheki Y., Idevall-Hagren O., Colombo S.F., Pirruccello M., Milosevic I., Gracheva E.O., Bagriantsev S.N., Borgese N., De Camilli P. PI(4,5)P(2)-dependent and Ca(2+)-regulated ER-PM interactions mediated by the extended synaptotagmins. Cell 153, 1494-1509 (2013) PubMed

Gonzalez C., Martin J.M., Minshew N.J., Behrmann M. Practice makes improvement: How adults with autism out-perform others in a naturalistic visual search task.J. Autism Dev. Disord. 43, 2259-2268 (2013) PubMed

Grubb M.A., Behrmann M., Egan R., Minshew N.J., Heeger D.J., Carrasco M. Exogenous spatial attention: Evidence for intact functioning in adults with autism spectrum disorder. J. Vis. 13 (2013) PubMed

Grubb M.A., Behrmann M., Egan R., Minshew N.J., Carrasco M., Heeger D.J. Endogenous spatial attention: Evidence for intact functioning in adults with autism.Autism Res. 6, 108-118 (2013) PubMed

He X., Sanders S.J., Liu L., De Rubeis S., Lim E.T., Sutcliffe J.S., Schellenberg G.D., Gibbs R.A., Daly M.J., Buxbaum J.D., State M.W., Devlin B., Roeder K. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.PLoS Genet. 9, e1003671 (2013) PubMed

Hines R.M., Hines D.J., Houston C.M., Mukherjee J., Haydon P.G., Tretter V., Smart T.G., Moss S.J. Disrupting the clustering of GABAA receptor alpha-2 subunits in the frontal cortex leads to reduced gamma-power and cognitive deficits. Proc. Natl. Acad. Sci. USA 110, 16628-16633 (2013) PubMed

Hu S., Wan J., Su Y., Song Q., Zeng Y., Nguyen H.N., Shin J., Cox E., Rho H.S., Woodard C., Xia S., Liu S., Lyu H., Ming G.L., Wade H., Song H., Qian J., Zhu H. DNA methylation presents distinct binding sites for human transcription factors. eLife 2, e00726 (2013) PubMed

Jiang M., Ash R.T., Baker S.A., Suter B., Ferguson A., Park J., Rudy J., Torsky S.P., Chao H.T., Zoghbi H.Y., Smirnakis S.M. Dendritic arborization and spine dynamics are abnormal in the mouse model of MeCP2 duplication syndrome. J. Neurosci. 33, 19518-19533 (2013) PubMed

Jones W. and A. Klin Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism. Nature 504, 427-431 (2013) PubMed

Kaas G.A., Zhong C., Eason D.E., Ross D.L., Vachhani R.V., Ming G.L., King J.R., Song H., Sweatt J.D. TET1 controls CNS 5-methylcytosine hydroxylation, active DNA demethylation, gene transcription, and memory formation. Neuron 79, 1086-1093 (2013) PubMed

King I.F., Yandava C.N., Mabb A.M., Hsiao J.S., Huang H.S., Pearson B.L., Calabrese J.M., Starmer J., Parker J.S., Magnuson T., Chamberlain S.J., Philpot B.D., Zylka M.J.Topoisomerases facilitate transcription of long genes linked to autism. Nature 501, 58-62 (2013) PubMed

Krasnitz A., Sun G., Andrews P., Wigler M. Target inference from collections of genomic intervals.
Proc. Natl. Acad. Sci. USA 110, e2271-2278 (2013) PubMed

Lee K., Kim Y., Lee S.J., Qiang Y., Lee D., Lee H.W., Kim H., Je H.S., Südhof T.C., Ko J. MDGAs interact selectively with neuroligin-2 but not other neuroligins to regulate inhibitory synapse development. Proc. Natl. Acad. Sci. USA 110, 336-341 (2013) PubMed

Li Y., Wang H., Muffat J., Cheng A.W., Orlando D.A., Lovén J., Kwok S.M., Feldman D.A., Bateup H.S., Gao Q., Hockemeyer D., Mitalipova M., Lewis C.A., Vander Heiden M.G., Sur M., Young R.A., Jaenisch R. Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons. Cell Stem Cell 13, 446-458 (2013) PubMed

Lloyd-Fox S., Blasi A., Elwell C.E., Charman T., Murphy D., Johnson M.H. Reduced neural sensitivity to social stimuli in infants at risk for autism. Proc. Biol. Sci. 280, 20123026 (2013) PubMed

Menashe I., Grange P., Larsen E.C., Banerjee-Basu S., Mitra P.P. Co-expression profiling of autism genes in the mouse brain. PLoS Comput. Biol. 9, e1003128 (2013) PubMed

Oksenberg N and. N. Ahituv The role of AUTS2 in neurodevelopment and human evolution.Trends Genet. 29, 600-608 (2013) PubMed

Oksenberg N., Stevison L., Wall J.D., Ahituv N. Function and regulation of AUTS2, a gene implicated in autism and human evolution.PLoS Genet. 9, e1003221 (2013) PubMed

Ouyang Q., Lizarraga S.B., Schmidt M., Yang U., Gong J., Kauer J.A., Morrow E.M. Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development. Neuron 80, 97-112 (2013) PubMed

Parikshak N.N., Luo R., Zhang A., Won H., Lowe J.K., Chandran V., Horvath S., Geschwind D.H. Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism. Cell 155, 1008-1021 (2013) PubMed

Rutishauser U., Tudusciuc O., Wang S., Mamelak A.N., Ross I.B., Adolphs R. Single-neuron correlates of atypical face processing in autism. Neuron 80, 887-899 (2013) PubMed

Said C.P., Egan R.D., Minshew N.J., Behrmann M., Heeger D.J. Normal binocular rivalry in autism: Implications for the excitation/inhibition imbalance hypothesis.Vision Res. 77, 59-66 (2013) PubMed

Sampath S., Bhat S., Gupta S., Doan B.Q., O'Connor A., West A.B., Arking D.E., Chakravarti A. Defining the contribution of CNTNAP2 to autism susceptibility. PLoS One 8, e77906 (2013) PubMed

Seery A.M., Vogel-Farley V., Tager-Flusberg H., Nelson C.A. Atypical lateralization of ERP response to native and non-native speech in infants at risk for autism spectrum disorder. Dev. Cogn. Neurosci. 5, 10-24 (2013) PubMed

Shin J., Ming G.L., Song H. By hook or by crook: Multifaceted DNA-binding properties of MeCP2. Cell 152, 940–942 (2013) PubMed

Song C.X., Szulwach K.E., Dai Q., Fu Y., Mao S.Q., Lin L., Street C., Li Y., Poidevin M., Wu H., Gao J., Liu P., Li L., Xu G.L., Jin P., He C. Genome-wide profiling of 5-formylcytosine reveals its roles in epigenetic priming.Cell 153, 678-691 (2013) PubMed

Sweatt J.D. Pitt-Hopkins syndrome: Intellectual disability due to loss of TCF4-regulated gene transcription. Exp. Mol. Med. 45, e21 (2013) PubMed

Takeuchi K., Gertner M.J., Zhou J., Parada L.F., Bennett M.V., Zukin R.S. Dysregulation of synaptic plasticity precedes appearance of morphological defects in a PTEN conditional knockout mouse model of autism. Proc. Natl. Acad. Sci. USA 110, 4738-4743 (2013) PubMed

Talebizadeh Z., Arking D.E., Hu V.W. A novel stratification method in linkage studies to address inter- and intra-family heterogeneity in autism. PLoS One 8, e67569 (2013) PubMed

Tang G., Gutierrez Rios P., Kuo S.H., Akman H.O., Rosoklija G., Tanji K., Dwork A., Schon E.A., DiMauro S., Goldman J., Sulzer D. Mitochondrial abnormalities in temporal lobe of autistic brain. Neurobiol. Dis. 54, 349-361 (2013) PubMed

Taylor A.M., Wu J., Tai H.C., Schuman E.M. Axonal translation of beta-catenin regulates synaptic vesicle dynamics. J. Neurosci. 33, 5584-5589 (2013) PubMed

Vithlani M., Hines R.M., Zhong P., Terunuma M., Hines D.J., Revilla-Sanchez R., Jurd R., Haydon P., Rios M., Brandon N., Yan Z., Moss S.J. The ability of BDNF to modify neurogenesis and depressive-like behaviors is dependent upon phosphorylation of tyrosine residues 365/367 in theGABA(A)-receptor gamma2 subunit. J. Neurosci. 33, 15567-15577 (2013) PubMed

Weng Y.L., An R., Shin J., Song H., Ming G.L. DNA Modifications and neurological disorders. Neurotherapeutics 10, 556-567 (2013) PubMed

Willsey A.J., Sanders S.J., Li M., Dong S., Tebbenkamp A.T., Muhle R.A., Reilly S.K., Lin L., Fertuzinhos S., Miller J.A., Murtha M.T., Bichsel C., Niu W., Cotney J., Ercan-Sencicek A.G., Gockley J., Gupta A.R., Han W., He X., Hoffman E.J., Klei L., Lei J., Liu W., Liu L., Lu C., Xu X., Zhu Y., Mane S.M., Lein E.S., Wei L., Noonan J.P., Roeder K., Devlin B., Sestan N., State M.W. Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.Cell 155, 997-1007 (2013) PubMed

Xu W. and T.C. Südhof A neural circuit for memory specificity and generalization. Science 339, 1290-1295 (2013) PubMed

Yuan T., Mameli M., O’Connor E.C., Dey P.N., Verpelli C., Sala C., Perez-Otano I., Lüscher C., Bellone C. Expression of cocaine-evoked synaptic plasticity by GluN3A-containing NMDA receptors. Neuron 80, 1025-1038 (2013) PubMed

Zang T., Maksimova M.A., Cowan C.W., Bassel-Duby R., Olson E.N., Huber K.M. Postsynaptic FMRP bidirectionally regulates excitatory synapses as a function of developmental age and MEF2 activity. Mol. Cell Neurosci.56, 39-49 (2013) PubMed

SSC (2013)

Amiet C., Gourfinkel-An I., Laurent C., Carayol J., Génin B., Leguern E., Tordjman S., Cohen S. Epilepsy in simplex autism pedigrees is much lower than the rate in multiplex autism pedigrees. Biol. Psychiatry 74, e3-4 (2013) PubMed

Bahl S., Chiang C., Beauchamp R.L., Neale B.M., Daly M.J., Gusella J.F., Talkowski M.E., Ramesh V. Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder. Mol. Autism 4, 5 (2013) PubMed

Ben-David E. and S. Shifman Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism. Mol. Psychiatry 18, 1054-1056 (2013) PubMed

Bernier R., Aaronson B., McPartland J. The role of imitation in the observed heterogeneity in EEG mu rhythm in autism and typical development. Brain Cogn. 82, 69-75 (2013) PubMed

Bishop S.L., Hus V., Duncan A., Huerta M., Gotham K., Pickles A., Kreiger A., Buja A., Lund S., Lord, C. Subcategories of restricted and repetitive behaviors in children with autism spectrum disorders. J. Autism Dev. Disord. 43, 1287-1297 (2013) PubMed

Campbell M.G., Kohane I.S., Kong S.W. Pathway-based outlier method reveals heterogeneous genomic structure of autism in blood transcriptome. BMC Med. Genomics 6, 34 (2013) PubMed

Carayol J., Génin B., Liebaert F., Thiébaut R., Abrahams B.S., Frazier T.W., Amiet C. (2013, October). Evidence for a common polygenic component in risk of autism. Poster presented at the annual meeting of the American Academy of Child and Adolescent Psychiatry, Orlando, FL.

Cheng Y., Quinn J.F., Weiss L.A. An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk. Hum. Mol. Genet. 22, 2960-2972 (2013) PubMed

Dougherty J.D., Maloney S.E., Wozniak D.F., Rieger M.A., Sonnenblick L., Coppola G., Mahieu N.G., Zhang J., Cai J., Patti G.J., Abrahams B.S., Geschwind D.H., Heintz N. The disruption of CELF6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors. J. Neurosci. 33, 2732-2753 (2013) PubMed

Gamsiz E.D., Viscidi E.W., Frederick A.M., Nagpal S., Sanders S.J., Murtha M.T., Schmidt M.; Simons Simplex Collection Genetics Consortium, Triche E.W., Geschwind D.H., State M.W., Istrail S., Cook E.H. Jr., Devlin B., Morrow E.M. Intellectual disability is associated with increased runs of homozygosity in simplex autism. Am. J. Hum. Genet. 93, 103-109 (2013) PubMed

Girirajan S., Dennis M.Y., Baker C., Malig M., Coe B.P., Campbell C.D., Mark K., Vu T.H., Alkan C., Cheng Z., Biesecker L.G., Bernier R., Eichler E.E. (2013). Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Am. J. Hum. Genet. 92, 221-237 (2013) PubMed

Gotham K., Bishop S.L., Hus V., Huerta M., Lund S., Buja A., Krieger A., Lord C. Exploring the relationship between anxiety and insistence on sameness in autism spectrum disorders. Autism Res. 6, 33-41 (2013) PubMed

Hanson E., Cerban B.M., Slater C.M., Caccamo L.M., Bacic J., Chan E. Brief report: Prevalence of attention deficit/hyperactivity disorder among individuals with an autism spectrum disorder. J. Autism Dev. Disord. 43, 1459-1464 (2013) PubMed

He X., Sanders S.J., Liu L., De Rubeis S., Lim E.T., Sutcliffe J.S., Schellenberg G.D., Gibbs R.A., Daly M.J., Buxbaum J.D., State M.W., Devlin B., Roeder K. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genet. 9, e1003671 (2013) PubMed

Hus V., Bishop S., Gotham K., Huerta M., Lord C. Factors influencing scores on the Social Responsiveness Scale. J. Child Psychol. Psychiatry 54, 216-224 (2013) PubMed

Hus V. and C. Lord Effects of child characteristics on the Autism Diagnostic Interview-Revised: Implications for use of scores as a measure of ASD severity. J. Autism Dev. Disord. 43, 371-381 (2013) PubMed

Kong S.W., Shimizu-Motohashi Y., Campbell M.G., Lee I.H., Collins C.D., Brewster S.J., Holm I.A., Rappaport L., Kohane I.S., Kunkel L.M. Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. Neurogenetics 14, 143-152 (2013) PubMed

Krumm N., O'Roak B.J., Karakoc E., Mohajeri K., Nelson B., Vives L., Jacquemont S., Munson J., Bernier R., Eichler E.E. Transmission disequilibrium of small CNVs in simplex autism. Am. J. Hum. Genet. 93, 595-606 (2013) PubMed

Lim E.T., Raychaudhuri S., Sanders S.J., Stevens C., Sabo A., MacArthur D.G., Neale B.M., Kirby A., Ruderfer D.M., Fromer M., Lek M., Liu L., Flannick J., Ripke S., Nagaswamy U., Muzny D., Reid J.G., Hawes A., Newsham I., Wu Y., Lewis L., Dinh H., Gross S., Wang L.S., Lin C.F., Valladares O., Gabriel S.B., dePristo M., Altshuler D.M., Purcell S.M., NHLBI Exome Sequencing Project, State M.W., Boerwinkle E., Buxbaum J.D., Cook E.H., Gibbs R.A., Schellenberg G.D., Sutcliffe J.S., Devlin B., Roeder K., Daly M.J. Rare complete knockouts in humans: Population distribution and significant role in autism spectrum disorders. Neuron 77, 235-242 (2013) PubMed

Malesa E., Foss-Feig J., Yoder P., Warren Z., Walden T., Stone W.L. Predicting language and social outcomes at age 5 for later-born siblings of children with autism spectrum disorders. Autism 17, 558-570 (2013) PubMed

Moreno-De-Luca D., Sanders S.J., Willsey A.J., Mulle J.G., Lowe J.K., Geschwind D.H., State M.W., Martin C.L., Ledbetter D.H. Using large clinical datasets to infer pathogenicity for rare copy number variants in autism cohorts. Mol. Psychiatry 18, 1090-1095 (2013) PubMed

Noh H.J., Ponting C.P., Boulding H.C., Meader S., Betancur C., Buxbaum J.D., Pinto D., Marshall C.R., Lionel A.C., Scherer S.W., Webber C. Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism. PLoS Genet. 9, e1003523 (2013) PubMed

Sagar A., Bishop J.R., Tessman D.C., Guter S., Martin C.L., Cook E.H. Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion. Am. J. Med. Genet. A. 161A, 845-849 (2013) PubMed

Shivers C.M., Deisenroth L.K., Taylor J.L. Patterns and predictors of anxiety among siblings of children with autism spectrum disorders. J. Autism Dev. Disord. 43, 1336-1346 (2013) PubMed

Westmark C.J. Soy infant formula may be associated with autistic behaviors. Autism Open Access 3 (2013) PubMed

Weigelt S., Koldewyn K., Kanwisher N. Face recognition deficits in autism spectrum disorders are both domain specific and process specific. PLoS One 8, e74541 (2013) PubMed

Yu T.W., Chahrour M.H., Coulter M.E., Jiralerspong S., Okamura-Ikeda K., Ataman B., Schmitz-Abe K., Harmin D.A., Adli M., Malik A.N., D'Gama A.M., Lim E.T., Sanders S.J., Mochida G.H., Partlow J.N., Sunu C.M., Felie J.M., Rodriguez J., Nasir R.H., Ware J., Joseph R.M., Hill R.S., Kwan B.Y., Al-Saffar M., Mukaddes N.M., Hashmi A., Balkhy S., Gascon G.G., Hisama F.M., LeClair E., Poduri A., Oner O., Al-Saad S., Al-Awadi S.A., Bastaki L., Ben-Omran T., Teebi A.S., Al-Gazali L., Eapen V., Stevens C.R., Rappaport L., Gabriel S., Markianos K., State M.W., Greenberg M.E., Taniguchi H., Braverman N.E., Morrow E.M., Walsh C.A. Using whole-exome sequencing to identify inherited causes of autism. Neuron 77, 259-273 (2013) PubMed

Zaidi S., Choi M., Wakimoto H., Ma L., Jiang J., Overton J.D., Romano-Adesman A., Bjornson R.D., Breitbart R.E., Brown K.K., Carriero N.J., Cheung Y.H., Deanfield J., DePalma S., Fakhro K.A., Glessner J., Hakonarson H., Italia M.J., Kaltman J.R., Kaski J., Kim R., Kline J.K., Lee T., Leipzig J., Lopez A., Mane S.M., Mitchell L.E., Newburger J.W., Parfenov M., Pe'er I., Porter G., Roberts A.E., Sachidanandam R., Sanders S.J., Seiden H.S., State M.W., Subramanian S., Tikhonova I.R., Wang W., Warburton D., White P.S., Williams I.A., Zhao H., Seidman J.G., Brueckner M., Chung W.K., Gelb B.D., Goldmuntz E., Seidman C.E., Lifton R.P. De novo mutations in histone-modifying genes in congenital heart disease. Nature 498, 220-223 (2013) PubMed

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Chaste P., Klei L., Sanders S.J., Murtha M.T., Hus V., Lowe J.K., Willsey A.J, Moreno-DeLuca D., Yu T.W., Fombonne E., Geschwind D., Grice D.E., Ledbetter D.H., Lord C., Mane S.M., Lese Martin C., Martin D.M., Morrow E.M., Walsh C.A., Sutcliffe J.S., State M.W., Devlin B., Cook E.H. Jr., Kim S. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Biol. Psychiatry 74, 576-584 (2013) PubMed

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2012

Abyzov A., Mariani J., Palejev D., Zhang Y., Haney M.S., Tomasini L., Ferrandino A.F., Rosenberg Belmaker L.A., Szekely A., Wilson M., Kocabas A., Calixto N.E., Grigorenko E.L., Huttner A., Chawarska K., Weissman S., Urban A.E., Gerstein M., Vaccarino F.M. Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells. Nature 492, 438-442 (2012) PubMed

Arguello P.A. and J.A. Gogos Genetic and cognitive windows into circuit mechanisms of psychiatric disease. Trends Neurosci. 35, 3-13 (2012) PubMed

Banerjee A., Castro J., Sur M. Rett syndrome: Genes, synapses, circuits, and therapeutics. Front. Psychiatry 3, 34 (2012) PubMed

Benson D.L. and G.W. HuntleySynapse adhesion: A dynamic equilibrium conferring stability and flexibility.Curr. Opin. Neurobiol. 22, 397-404 (2012) PubMed

Bhakar A.L., Dölen G., Bear M.F. The pathophysiology of fragile X (and what it teaches us about synapses). Annu. Rev. Neurosci. 35, 417-443(2012) PubMed

Blaker-Lee A., Gupta S., McCammon J.M., De Rienzo G., Sive H. Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes. Dis. Model Mech. 5, 834-851 (2012) PubMed

Buxbaum J.D., Daly M.J., Devlin B., Lehner T., Roeder K., State M.W., Autism Sequencing Consortium. The autism sequencing consortium: Large-scale, high-throughput sequencing in autism spectrum disorders. Neuron 76, 1052-1056 (2012) PubMed

Chahrour M.H., Yu T.W., Lim E.T., Ataman B., Coulter M.E., Hill R.S., Stevens C.R., Schubert C.R., ARRA Autism Sequencing Collaboration, Greenberg M.E., Gabriel S.B., Walsh C.A. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet. 8, e1002635 (2012) PubMed

Chen Y.C., Lin Y.Q., Banerjee S., Venken K., Li J., Ismat A., Chen K., Duraine L., Bellen H.J., Bhat M.A. Drosophila neuroligin 2 is required presynaptically and postsynaptically for proper synaptic differentiation and synaptic transmission.J. Neurosci.32, 16018-16030 (2012) PubMed

Chow M.L., Pramparo T., Winn M.E., Barnes C.C., Li H.R., Weiss L., Fan J.B., Murray S., April C., Belinson H., Fu X.D., Wynshaw-Boris A., Schork N.J., Courchesne E. Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages.PLoS Genet.8, e1002592 (2012) PubMed

Chow M.L., Winn M.E., Li H-R., April C., Wynshaw-Boris A., Fan J-B., Fu X-D., Courchesne E., Schork N.J. Preprocessing and quality control strategies for Illumina DASL assay-based brain gene expression studies with semi-degraded samples. Front. Genet. 3, 1-10 (2012) Abstract

Dinstein I., Heeger D.J., Lorenzi L., Minshew N.J., Malach R., Behrmann M. Unreliable evoked responses in autism.Neuron 75, 981-991 (2012) PubMed

Dixon-Salazar T.J., Silhavy J.L., Udpa N., Schroth J., Bielas S., Schaffer A.E., Olvera J., Bafna V., Zaki M.S., Abdel-Salam G.H., Mansour L.A., Selim L., Abdel-Hadi S., Marzouki N., Ben-Omran T., Al-Saana N.A., Sonmez F.M., Celep F., Azam M., Hill K.J., Collazo A., Fenstermaker A.G., Novarino G., Akizu N., Garimella K.V., Sougnez C., Russ C., Gabriel S.B., Gleeson J.G. Exome sequencing can improve diagnosis and alter patient management. Sci Transl. Med. 4, 138ra78 (2012) PubMed

Gupta S., Halushka M.K., Hilton G.M., Arking D.E. Postmortem cardiac tissue maintains gene expression profile even after late harvesting. BMC Genomics 13, 26 (2012) PubMed

Han S., Kim S., Bahl S., Li L., Burande C.F., Smith N., James M., Beauchamp R.L., Bhide P., DiAntonio A., Ramesh V. The E3 ubiquitin ligase protein associated with Myc (PAM) regulates mammalian/mechanistic target of rapamycin complex 1 (mTORC1) signaling in vivo through N- and C-terminal domains. J. Biol. Chem. 287, 30063-30072 (2012) PubMed

Hines R.M., Davies P.A., Moss S.J., Maguire J. Functional regulation of GABAA receptors in nervous system pathologies. Curr. Opin. Neurobiol. 22, 552-558 (2012) PubMed

Hu Z., Hom S., Kudze T., Tong X.J., Choi S., Aramuni G., Zhang W., Kaplan J.M. Neurexin and neuroligin mediate retrograde synaptic inhibition in C. elegans.Science 337, 980-984 (2012) PubMed

Idevall-Hagren O., Dickson E.J., Hille B., Toomre D.K., De Camilli P. Optogenetic control of phosphoinositide metabolism. Proc. Natl. Acad. Sci. USA 109, E2316-E2323 (2012) PubMed

Kelleher R.J., Geigenmüller U., Hovhannisyan H., Trautman E., Pinard R., Rathmell B., Carpenter R., Margulies D. High‐throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism. PLoS One 7, e35003 (2012) PubMed

Lammel S., Lim B.K., Ran C., Huang K.W., Betley M.J., Tye K.M., Deisseroth K., Malenka R.C. Input-specific control of reward and aversion in the ventral tegmental area. Nature 491, 212-217 (2012) PubMed

Lee J.E., Silhavy J.L., Zaki M.S., Schroth J., Bielas S.L., Marsh S.E., Olvera J., Brancati F., Iannicelli M., Ikegami K., Schlossman A.M., Merriman B., Attié-Bitach T., Logan C.V., Glass I.A., Cluckey A., Louie C.M., Lee J.H., Raynes H.R., Rapin I., Castroviejo I.P., Setou M., Barbot C., Boltshauser E., Nelson S.F., Hildebrandt F., Johnson C.A., Doherty D.A., Valente E.M., Gleeson J.G. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat. Genet. 44, 193-199 (2012) PubMed

Lee J.H., Silhavy J.L., Lee J.E., Al-Gazali L., Thomas S., Davis E.E., Bielas S.L., Hill K.J., Iannicelli M., Brancati F., Gabriel S.B., Russ C., Logan C.V., Sharif S.M., Bennett C.P., Abe M., Hildebrandt F., Diplas B.H., Attié-Bitach T., Katsanis N., Rajab A., Koul R., Sztriha L., Waters E.R., Ferro-Novick S., Woods G.C., Johnson C.A., Valente E.M., Zaki M.S., Gleeson J.G. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science 335,966-969 (2012) PubMed

Mariani J., Simonini M.V., Palejev D., Tomasini L., Coppola G., Szekely A.M., Horvath T.L., Vaccarino F.M. Modeling human cortical development in vitro using induced pluripotent stem cells. Proc. Natl. Acad. Sci. USA 109, 12770-12775 (2012) PubMed

Martinez F.J., Lee J.H., Lee J.E., Blanco S., Nickerson E., Gabriel S., Frye M., Al-Gazali L., Gleeson J.G. Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.J. Med. Genet. 49, 380-385 (2012) PubMed

Mellios N., Sur M. The emerging role of microRNAs in schizophrenia and autism spectrum disorders. Front. Psychiatry 3, 39 (2012) PubMed

Missler M., Südhof T.C., Biederer T. Synaptic cell adhesion. Cold Spring Harb. Perspect. Biol. 4, a005694 (2012) PubMed

Morgan J.T., Chana G., Abramson I., Semendeferi K., Courchesne E., Everall I.P.Abnormal microglial-neuronal spatial organization in the dorsolateral prefrontal cortex in autism. Brain Res. 1456, 72-81 (2012) PubMed

Nakatsu F., Baskin J.M., Chung J., Tanner L.B., Shui G., Lee S.Y., Pirruccello M., Hao M., Ingolia N.T., Wenk M.R., De Camilli P. PtdIns4P synthesis by PI4KIII-alpha at the plasma membrane and its impact on plasma membrane identity. J. Cell Biol. 199, 1003-1016 (2012) PubMed

Novarino G., El-Fishawy P., Kayserili H., Meguid N.A., Scott E.M., Schroth J., Silhavy J.L., Kara M., Khalil R.O., Ben-Omran T., Ercan-Sencicek A.G., Hashish A.F., Sanders S.J., Gupta A.R., Hashem H.S., Matern D., Gabriel S., Sweetman L., Rahimi Y., Harris R.A., State M.W., Gleeson J.G. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.Science338, 394-397 (2012) PubMed

Peça J. and G. Feng Cellular and synaptic network defects in autism.Curr. Opin. Neurobiol. 22, 866-872 (2012) PubMed

Riday T.T., Dankoski E.C., Krouse M.C., Fish E.W., Walsh P.L., Han J.E., Hodge C.W., Wightman R.M., Philpot B.D., Malanga C.J. Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome. J. Clin Invest. 122, 4544-4554 (2012) PubMed

Saliba R.S., Kretschmannova K., Moss S.J. Activity-dependent phosphorylation of GABAA receptors regulates receptor insertion and tonic current. EMBO J. 31, 2937-2951 (2012) PubMed

Sanders S.J., Murtha M.T., Gupta A.R., Murdoch J.D., Raubeson M.J., Willsey A.J., Ercan-Sencicek A.G., DiLullo N.M., Parikshak N.N., Stein J.L., Walker M.F., Ober G.T., Teran N.A., Song Y., El-Fishawy P., Murtha R.C., Choi M., Overton J.D., Bjornson R.D., Carriero N.J., Meyer K.A., Bilguvar K., Mane S.M., Sestan N., Lifton R.P., Günel M., Roeder K., Geschwind D.H., Devlin B., State M.W. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237-241 (2012) PubMed

State M.W. and N. Sestan Neuroscience. The emerging biology of autism spectrum disorders. Science 337, 1301-1303 (2012) PubMed

Talkowski M.E., Mullegama S.V., Rosenfeld J.A., van Bon B.W., Shen Y., Repnikova E.A., Gastier-Foster J., Thrush D.L., Kathiresan S., Ruderfer D.M., Chiang C., Hanscom C., Ernst C., Lindgren A.M., Morton C.C., An Y., Astbury C., Brueton L.A., Lichtenbelt K.D., Ades L.C., Fichera M., Romano C., Innis J.W., Williams C.A., Bartholomew D., Van Allen M.I., Parikh A., Zhang L., Wu B-L., Pyatt R.E., Schwartz S., Shaffer L.G., de Vries B.B., Gusella J.F., Elsea S.H. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am. J. Hum. Genet. 89, 551-563 (2011) PubMed

Tetreault N.A., Hakeem A.Y., Jiang S., Williams B.A., Allman E., Wold B.J., Allman J.M. Microglia in the cerebral cortex in autism. J. Autism Dev. Disord. 42, 2569-2584 (2012) PubMed

Tierney A.L., Gabard-Durnam L., Vogel-Farley V., Tager-Flusberg H., Nelson C.A. Developmental trajectories of resting EEG power: An endophenotype of autism spectrum disorder. PLoS One 7, e39127 (2012) PubMed

Ting J.T., Peça J., Feng G. Functional consequences of mutations in postsynaptic scaffolding proteins and relevance to psychiatric disorders.Annu. Rev. Neurosci.35, 49-71 (2012) PubMed

Tsai N.P., Wilkerson J.R., Guo W., Maksimova M.A., DeMartino G.N., Cowan C.W., Huber K.M. Multiple autism-linked genes mediate synapse elimination via proteasomal degradation of a synaptic scaffold PSD-95. Cell151, 1581-1594 (2012) PubMed

Wallace M.L., Burette A.C., Weinberg R.J., Philpot B.D. Maternal loss of Ube3a produces an excitatory/inhibitory imbalance through neuron type-specific synaptic defects. Neuron 74, 793-800 (2012) PubMed

Wang T., Pan Q., Lin L., Szulwach K.E., Song C.X., He C., Wu H., Warren S.T., Jin P., Duan R., Li X. Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum. Hum. Mol. Genet. 21, 5500-5510 (2012) PubMed

Zhou J., Parada L.F. PTEN signaling in autism spectrum disorders. Curr. Opin. Neurobiol. 22, 873-879 (2012) PubMed

Zoghbi H.Y. and M.F. Bear Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb. Perspect. Biol. 4 (2012) PubMed

SSC (2012)

Ackerman S., Reilly B., Bernier R. Tympanostomy tube placement in children with autism. J. Dev. Behav. Pediatr. 33, 252-258 (2012) PubMed

Brewton C.M., Nowell K.P., Lasala M.W., Goin-Kochel R.P. Relationship between the social functioning of children with autism spectrum disorders and their siblings’ competencies/problem behaviors. Res. Autism Spectr. Disord. 6, 646-653 (2012) Abstract

Ben-David E. and S. Shifman Networks of neuronal genes affected by common and rare variants in autism spectrum disorders. PLoS Genet. 8, e1002556 (2012) PubMed

Dempsey A.G., Llorens A., Brewton C., Mulchandani S., Goin-Kochel R.P. Emotional and behavioral adjustment in typically developing siblings of children with autism spectrum disorders. J. Autism Dev. Disord. 42, 1393-1402 (2012) PubMed

Girirajan S., Rosenfeld J.A., Coe B.P., Parikh S., Friedman N., Goldstein A., Filipink R.A., McConnell J.S., Angle B., Meschino W.S., Nezarati M.M., Asamoah A., Jackson K.E., Gowans G.C., Martin J.A., Carmany E.P., Stockton D.W., Schnur R.E., Penney L.S., Martin D.M., Raskin S., Leppig K., Thiese H., Smith R., Aberg E., Niyazov D.M., Escobar L.F., El-Khechen D., Johnson K.D., Lebel R.R., Siefkas K., Ball S., Shur N., McGuire M., Brasington C.K., Spence J.E., Martin L.S., Clericuzio C., Ballif B.C., Shaffer L.G., Eichler E.E. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N. Engl. J. Med. 367, 1321-1331 (2012) PubMed

Huerta M., Bishop S.L., Duncan A., Hus V., Lord C. Application of DSM-5 criteria for autism spectrum disorder to three samples of children with DSM-IV diagnoses of pervasive developmental disorders. Am. J. Psychiatry 169, 1056-1064 (2012) PubMed

Iossifov I., Ronemus M., Levy D., Wang Z., Hakker I., Rosenbaum J., Yamrom B., Lee Y.H., Narzisi G., Leotta A., Kendall J., Grabowska E., Ma B., Marks S., Rodgers L., Stepansky A., Troge J., Andrews P., Bekritsky M., Pradhan K., Ghiban E., Kramer M., Parla J., Demeter R., Fulton L.L., Fulton R.S., Magrini V.J., Ye K., Darnell J.C., Darnell R.B., Mardis E.R., Wilson R.K., Schatz M.C., McCombie W.R., Wigler M. De novo gene disruptions in children on the autistic spectrum. Neuron 74, 285-299 (2012) PubMed

Klei L., Sanders S.J., Murtha M.T., Hus V., Lowe J.K., Willsey A.J., Moreno-De-Luca D., Yu T.W., Fombonne E., Geschwind D., Grice D.E., Ledbetter D.H., Lord C., Mane S.M., Martin C.L., Martin D.M., Morrow E.M., Walsh C.A., Melhem N.M., Chaste P., Sutcliffe J.S., State M.W., Cook E.H. Jr., Roeder K. and Devlin B. Common genetic variants, acting additively, are a major source of risk for autism. Mol. Autism 3, 9 (2012) PubMed

Kong S.W., Collins C.D., Shimizu-Motohashi Y., Holm I.A., Campbell M.G., Lee I.H., Brewster S.J., Hanson E., Harris H.K., Lowe K.R., Saada A., Mora A., Madison K., Hundley R., Egan J., McCarthy J., Eran A., Galdzicki M., Rappaport L., Kunkel L.M., Kohane I.S. Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. PLoS One 7, e49475 (2012) PubMed

Lord C., Petkova E., Hus V., Gan W., Lu F., Martin D.M., Ousley O., Guy L., Bernier R., Gerdts J., Algermissen M., Whitaker A., Sutcliffe J.S., Warren Z., Klin A., Saulnier C., Hanson E., Hundley R., Piggot J., Fombonne E., Steiman M., Miles J., Kanne S.M., Goin-Kochel R.P., Peters S.U., Cook E.H., Guter S., Tjernagel J., Green-Snyder L.A., Bishop S., Esler A., Gotham K., Luyster R., Miller F., Olson J., Richler J., Risi S. A multisite study of the clinical diagnosis of different autism spectrum disorders. Arch. Gen. Psychiatry 69, 306-313 (2012) PubMed

Luo R., Sanders S.J., Tian Y., Voineagu I., Huang N., Chu S.H., Klei L., Cai C., Ou J., Lowe J.K., Hurles M.E., Devlin B., State M.W., Geschwind D.H. Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorder. Am. J. Hum. Genet. 91, 38-55 (2012) PubMed

Mazurek M.O., Kanne S.M, Miles J.H. Predicting improvement in social-communication symptoms of autism spectrum disorders using retrospective treatment data. Res. Autism Spectr. Disord. 6, 535-545 (2012) Abstract

O'Roak B.J., Vives L., Fu W., Egertson J.D., Stanaway I.B., Phelp, I.G., Carvill G., Kumar A., Lee C., Ankenman K., Munson J., Hiatt J.B., Turner E.H., Levy R., O'Day D.R., Krumm N., Coe B.P., Martin B.K., Borenstein E., Nickerson D.A., Mefford H.C., Doherty D., Akey J.M., Bernier R., Eichler E.E., Shendure J. (2012). Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338, 1619-1622 (2012) PubMed

O'Roak B.J., Vives L., Girirajan S., Karakoc E., Krumm N., Coe B.P., Levy R., Ko A., Lee C., Smith J.D., Turner E.H., Stanaway I.B., Vernot B., Malig M., Baker C., Reilly B., Akey J.M., Borenstein E., Rieder M.J., Nickerson D.A., Bernier R., Shendure J., Eichler E.E. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246-250 (2012) PubMed

Peters S.U., Hundley R.J., Wilson A.K., Warren Z., Vehorn A., Carvalho C.M., Lupski J.R., Ramocki M.B. The behavioral phenotype in MeCP2 duplication syndrome: A comparison to idiopathic autism. Autism Res. 6, 42-50 (2012) PubMed

Warren Z.E., Foss-Feig J.H., Malesa E.E., Lee E.B., Taylor J.L., Newsom C.R., Crittendon J., Stone W.L. Neurocognitive and behavioral outcomes of younger siblings of children with autism spectrum disorder at age five. J. Autism Dev. Disord. 42, 409-418 (2012) PubMed

Warren Z.E., Vehorn A., Dohrmann E., Nicholson A., Sutcliffe J., Veenstra-VanderWeele J. Accuracy of phenotyping children with autism based on parent report: What specifically do we gain phenotyping ‘rapidly’? Autism Res. 5, 31-38 (2012) PubMed

Simons VIP (2012)

Celestino-Soper P.B.S., Violante S., Crawford E.L., Luo R., Lionel A.C., Delaby E., Cai G., Sadikovic B., Lee K., Lo C., Gao K., Person R.E., Moss T.J., German J.R., Huang N., Shinawi M., Treadwell-Deering D., Szatmari P., Roberts W., Fernandez B., Schroer R.J., Stevenson R.E., Buxbaum J.D., Betancur C., Scherer S.W., Sanders S.J., Geschwind D., Sutcliffe J.S., Hurles M.E., Wanders R.J., Shaw C.A., Leal S.M., Cook E.H., Goin-Kochel R.P., Vaz F.M., Beaudet A.L. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc. Natl Acad. Sci. USA, 109, 7974-7981 (2012) PubMed

Jacquemont S., Zufferey F., Golzio C., Sherr E.H., Beckmann N.D., Hanson E., Maillard A., Hippolyte L., Mace A., Ferrari C., Kutalik Z., Andrieux J., Bernier R., Blakemore A.I.F., Bouquillon S., Delobel B., Andrew-Faucett W., Goin-Kochel R.P., Harewood L., Lebon S., Ledbetter D.H., Lese-Martin C., Mannick K., Martinet D., Ramocki M.B., Spence S.J., Steinmann K., Tjernagel J., Walters R.G., Spiro J.E., Froguel P., Katsanis N., Reymond A., Chung W., Beckmann J.S. Mirror aetiologies of severe obesity and very low body mass index. Drug Metabolism and Drug Interactions, 27(3), (A15-).

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

Stevens H.E., Mariani J., Coppola G., Vaccarino F.M. Neurobiology meets genomic science: The promise of human-induced pluripotent stem cells. Dev. Psychopathol. 24, 1443-1451 (2012) PubMed

Zufferey F., Sherr E.H., Beckmann N.D., Hanson E., Maillard A.M., Hippolyte L., Macé A., Ferrari C., Kutalik Z., Andrieux J., Aylward E., Barker M., Bernier R., Bouquillon S., Conus P., Delobel B., Faucett W.A., Goin-Kochel R.P., Grant E., Harewood L., Hunter J.V., Lebon S., Ledbetter D.H., Martin C.L., Mannik K., Martinet D., Mukherjee P., Ramocki M.B., Spence S.J., Steinman K., Tjernagel J., Spiro J.E., Reymond A., Beckmann J.S., Chung W.K., 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. 49, 660-668 (2012) PubMed

2011

Allman J.M., Tetreault N.A., Hakeem A.Y., Manaye K.F., Semendeferi K., Erwin J.M., Park S., Goubert V., Hof P.R. The von Economo neurons in the frontoinsular and anterior cingulate cortex. Ann. N.Y. Acad. Sci. 1225, 59-71 (2011) PubMed

de Anda F.C. and L-H. Tsai Axon selection: from a polarized cytoplasm to a migrating neuron. Commun. Integr. Biol. 4, 304-307 (2011) PubMed

Antzoulatos E.G. and E.K. Miller Differences between neural activity in prefrontal cortex and striatum during learning of novel abstract categories. Neuron 71, 243-249 (2011) PubMed

Auerbach B.D., Osterweil E.K., Bear M.F. Mutations causing syndromic autism define an axis of synaptic pathophysiology. Nature 480, 63-68 (2011) PubMed

Bader P.L., Faizi M., Kim L.H., Owen S.F., Tadross M.R., Alfa R.W., Bett G.C., Tsien R.W., Rasmusson R.L., Shamloo M. Mouse model of Timothy syndrome recapitulates triad of autistic traits. Proc. Natl. Acad. Sci. U.S.A. 108, 15432-15437 (2011) PubMed

Bosl W., Tierney A., Tager-Flusberg H., Nelson C. EEG complexity as a biomarker for autism spectrum disorder risk. BMC Med. 9, 18 (2011) PubMed

Celestino-Soper P.B.S., Shaw C.A., Sanders S.J., Li J., Murtha M.T., Ercan-Sencicek A.G., Davis L., Thomson S., Gambin T., Chinault A.C., Ou Z., German J.R., Milosavljevic A., Sutcliffe J.S., Cook E.H., Stankiewicz P., State M.W., Beaudet A.L. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Hum. Mol. Genet. 20, 4360-4370 (2011) PubMed

Choi Y-B., Li H-L., Kassabov S.R., Jin I., Puthanveettil S.V., Karl K.A., Lu Y., Kim J-H., Bailey C.H., Kandel E.R. Neurexin-neuroligin transsynaptic interaction mediates learning-related synaptic remodeling and long-term facilitation in aplysia. Neuron 70, 468-481 (2011) PubMed

Chow M.L., Li H-R., Winn M.E., April C., Barnes C.C., Wynshaw-Boris A., Fan J-B., Fu X-D., Courchesne E., Schork N.J. Genome-wide expression assay comparison across frozen and fixed postmortem brain tissue samples. BMC Genomics 12, 449 (2011) PubMed

Courchesne E., Mouton P.R., Calhoun M.E., Semendeferi K., Ahrens-Barbeau C., Hallet M.J., Barnes C.C., Pierce K. Neuron number and size in prefrontal cortex of children with autism. JAMA 306, 2001-2010 (2011) PubMed

Crittenden J.R. and A.M. Graybiel Basal ganglia disorders associated with imbalances in the striatal striosome and matrix compartments. Front. Neuroanat. 5, 59 Epub (2011) PubMed

De Marco García N.V., Karayannis T., Fishell G. Neuronal activity is required for the development of specific cortical interneuron subtypes. Nature 472, 351–355 (2011) Abstract

Dinstein I., Pierce K., Eyler L., Solso S., Malach R., Behrmann M., Courchesne E.Disrupted neural synchronization in toddlers with autism.Neuron 70, 1218-1225 (2011) PubMed

Etherton M., Földy C., Sharma M., Tabuchi K., Liu X., Shamloo M., Malenka R.C., Südhof T.C. Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function. Proc. Natl. Acad. Sci. USA 108, 13764-13769 (2011) PubMed

Etherton M.R., Tabuchi K., Sharma M., Ko J., Südhof T.C. An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus. EMBO J. 30, 2908-2919 (2011) PubMed

Fishell G. and B. Rudy Mechanisms of inhibition within the telencephalon: “where the wild things are.” Annu. Rev. Neurosci. 34, 535-567 (2011) PubMed

Geschwind D.H. Genetics of autism spectrum disorders. Trends Cogni. Sci. 15, 409-416 (2011) Abstract

Gilman S.R., Iossifov I., Levy D., Ronemus M., Wigler M., Vitkup D. Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron 70, 898-907 (2011) PubMed

Horev G., Ellegood J., Lerch J.P., Son Y-E.E., Muthuswamy L., Vogel H., Krieger A.M., Buja A., Henkelman R.M., Wigler M., Mills A.A. Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. Proc. Natl. Acad. Sci. U.S.A. 108, 17076-17081 (2011) Abstract

Huang H., Chanda P., Alonso A., Bader J.S., Arking D.E. Gene‐based tests of association. PLoS Genet. 7, e1002177 (2011) PubMed

Javitt D.C., Schoepp D., Kalivas P.W., Volkow N.D., Zarate C., Merchant K., Bear M.F., Umbricht D., Hajos M., Potter W.Z., Lee C-M. Translating glutamate: from pathophysiology to treatment. Sci. Transl. Med. 3, 102mr2 (2011) PubMed

Kaiser M.D. and K.A. Pelphrey Disrupted action perception in autism: Behavioral evidence, neuroendophenotypes, and diagnostic utility. Dev. Cogn. Neurosci. 2, 25-35 (2011) Abstract

Kaufman D.R., Cronin P., Rozenblit L., Voccola D., Horton A., Shine A., Johnson S.B. Facilitating the iterative design of informatics tools to advance the science of autism. Stud. Health Technol. Inform. 169, 955-959 (2011) PubMed

Ko J., Soler-Llavina G.J., Fuccillo M.V., Malenka R.C., Südhof T.C. Neuroligins/LRRTMs prevent activity- and Ca2+/calmodulin-dependent synapse elimination in cultured neurons. J. Cell Biol. 194, 323-334 (2011) PubMed

Kolevzon A., Cai G., Soorya L., Takahashi N., Grodberg D., Kajiwara Y., Willner J.P., Tryfon A., Buxbaum J.D. Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities. Brain Res. 1380, 98-105 (2011) PubMed

Krueger D.D. and M.F. Bear Toward fulfilling the promise of molecular medicine in fragile X syndrome. Annu. Rev. Med. 62, 411-429 (2011) PubMed

Krueger D.D., Osterweil E.K., Chen S.P., Tye L.D., Bear M.F. Cognitive dysfunction and prefrontal synaptic abnormalities in a mouse model of fragile X syndrome. Proc. Natl. Acad. Sci. U.S.A. 108, 2587-2592 (2011) PubMed

Kwon H-B. and B.L. Sabatini Glutamate induces de novo growth of functional spines in developing cortex. Nature 474, 100-104 (2011) PubMed

Levy D., Ronemus M., Yamrom B., Lee Y-H., Leotta A., Kendall J., Marks S., Lakshmi B., Pai D., Ye K., Buja A., Krieger A., Yoon S., Troge J., Rodgers L., Iossifov I., Wigler M. Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron 70, 886-897 (2011) PubMed

Maric H.M., Mukherjee J., Tretter V., Moss S.J., Schindelin H. Gephyrin-mediated gamma-aminobutyric acid type A and glycine receptor clustering relies on a common binding site. J. Biol. Chem. 286, 42105-42114 (2011) PubMed

Mellios N., Sugihara H., Castro J., Banerjee A., Le C., Kumar A., Crawford B., Strathmann J., Tropea D., Levine S.S., Edbauer D., Sur M. miR-132, an experience-dependent microRNA, is essential for visual cortex plasticity. Nat. Neurosci. 14, 1240-1242 (2011) PubMed

Moran J.M., Young L.L., Saxe R., Lee S.M., O’Young D., Mavros P.L., Gabrieli J.D. Impaired theory of mind for moral judgment in high-functioning autism. Proc. Natl. Acad. Sci. U.S.A. 108, 2688-2692 (2011) PubMed

Novarino G., Akizu N., Gleeson J.G. Modeling human disease in humans: The ciliopathies.
Cell 147, 70-79 (2011) PubMed

Peça J., Feliciano C., Ting J.T., Wang W., Wells M.F., Venkatraman T.N., Lascola C.D., Fu Z., Feng G. SHANK3 mutant mice display autistic-like behaviours and striatal dysfunction.Nature472, 437-442 (2011) PubMed

Pitskel N.B., Bolling D.Z., Kaiser M.D., Crowley M.J., Pelphrey K.A. How grossed out are you? The neural bases of emotion regulation from childhood to adolescence. Dev. Cogn. Neurosci. 1, 324-337 (2011) PubMed

Qiu S., Anderson C.T., Levitt P., Shepherd G.M.G. Circuit-specific intracortical hyperconnectivity in mice with deletion of the autism-associated Met receptor tyrosine kinase. J. Neurosci. 31, 5855-5864 (2011) PubMed

Sanders S.J., Ercan-Sencicek A.G., Hus V., Luo R., Murtha M.T., Moreno-De-Luca D., Chu S.H., Moreau M.P., Gupta A.R., Thomson S.A., Mason C.E., Bilguvar K., Celestino-Soper P.B.S., Choi M., Crawford E.L., Davis L., Davis Wright N.R., Dhodapkar R.M., DiCola M., DiLullo N.M., Fernandez T.V., Fielding-Singh V., Fishman D.O., Frahm S., Garagaloyan R., Goh G.S., Kammela S., Klei L., Lowe J.K., Lund S.C., McGrew A.D., Meyer K.A., Moffat W.J., Murdoch J.D., O’Roak B.J., Ober G.T., Pottenger R.S., Raubeson M.J., Song Y., Wang Q., Yaspan B.L., Yu T.W., Yurkiewicz I.R., Beaudet A.L., Cantor R.M., Curland M., Grice D.E., Günel M., Lifton R.P., Mane S.M., Martin D.M., Shaw C.A., Sheldon M., Tischfield J.A., Walsh C.A., Morrow E.M., Ledbetter D.H., Fombonne E., Lord C., Martin C.L., Brooks A.I., Sutcliffe J.S., Cook E.H., Geschwind D., Roeder K., Devlin B., State M.W. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70, 863-885 (2011) PubMed

Schaaf C.P., Sabo A., Sakai Y., Crosby J., Muzny D., Hawes A., Lewis L., Akbar H., Varghese R., Boerwinkle E., Gibbs R.A., Zoghbi H.Y. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum. Mol. Genet. 20, 3366-3375 (2011) PubMed

Shen Y., Chen X., Wang L., Guo J., Shen J., An Y., Zhu H., Zhu Y., Xin R., Bao Y., Gusella J.F., Zhang T., Wu B-L. Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family. Am. J. Med. Genet. B. Neuropsychiatr. Genet. 156, 225-232 (2011) PubMed

Shepherd G.M. and D.M. Katz Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: Focus on MeCP2 and MET. Curr. Opin. Neurobiol. 21, 827-33 (2011) PubMed

Shiffrar M. People watching: visual, motor, and social processes in the perception of human movement. Wiley Interdiscip. Rev. Cogn. Sci. 2, 68-78 (2011) Abstract

Sive H. “Model” or “tool”? New definitions for translational research. Dis. Model Mech. 4, 137-138 (2011) PubMed

Solari S.V.H., and R. Stoner Cognitive consilience: primate non-primary neuroanatomical circuits underlying cognition. Front. Neuroanat. 5, 65(2011) PubMed

Soler-Llavina G.J., Fuccillo M.V., Ko J., Südhof T.C., Malenka R.C. The neurexin ligands, neuroligins and leucine-rich repeat transmembrane proteins, perform convergent and divergent synaptic functions in vivo. Proc. Natl. Acad. Sci. USA 108, 16502-16509 (2011) PubMed

State M.W. and P. Levitt The conundrums of understanding genetic risks for autism spectrum disorders. Nat. Neurosci. 14, 1499-1506 (2011) PubMed

Talkowski M.E., Ernst C., Heilbut A., Chiang C., Hanscom C., Lindgren A., Kirby A., Liu S., Muddukrishna B., Ohsumi T.K., Shen Y., Borowsky M., Daly M.J., Morton C.C., Gusella J.F. Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am. J. Hum. Genet. 88,469-481 (2011) PubMed

Taniguchi H., He M., Wu P., Kim S., Paik R., Sugino K., Kvitsani D., Fu Y., Lu J., Lin Y., Miyoshi G., Shima Y., Fishell G., Nelson S.B., Huang Z.J. A resource of Cre driver lines for genetic targeting of GABAergic neurons in cerebral cortex. Neuron 71, 995-1013 (2011) Abstract

Till S.M., Li H.L., Miniaci M.C., Kandel E.R., Choi Y.B. A presynaptic role for FMRP during protein synthesis-dependent long-term plasticity in Aplysia. Learn Mem. 18, 39-48 (2011) PubMed

Ting J.T. and G. Feng Neurobiology of obsessive-compulsive disorder: Insights into neural circuitry dysfunction through mouse genetics.Curr. Opin. Neurobiol. 21, 842-848 (2011) PubMed

Vernes S.C., Oliver P.L., Spiteri E., Lockstone H.E., Puliyadi R., Taylor J.M., Ho J., Mombereau C., Brewer A., Lowy E., Nicod J., Groszer M., Baban D., Sahgal N., Cazier J-B., Ragoussis J., Davies K.E., Geschwind D.H., Fisher S.E. Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain. PLoS Genet. 7, e1002145 (2011) PubMed

Wagner J.B., Fox S.E., Tager-Flusberg H., Nelson C.A. Neural processing of repetition and non-repetition grammars in 7- and 9-month-old infants. Front. Psychol. 2, 168 (2011) PubMed

Whitehouse A.J.O., Bishop D.V.M., Ang Q.W., Pennell C.E., Fisher S.E. CNTNAP2 variants affect early language development in the general population. Genes Brain Behav. 10, 451-456 (2011) PubMed

Wöhr M., Roullet F.I., Hung A.Y., Sheng M., Crawley J.N. Communication impairments in mice lacking SHANK1: reduced levels of ultrasonic vocalizations and scent marking behavior. PLoS ONE 6,e20631 (2011) PubMed

Yazawa M., Hsueh B., Jia X., Pasca A.M., Bernstein J.A., Hallmayer J., Dolmetsch R.E. Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. Nature 471, 230-234 (2011) PubMed

Zhang J., Wang Y., Chi Z., Keuss M.J., Pai Y-M.E., Kang H.C., Shin J-H., Bugayenko A., Wang H., Xiong Y., Pletnikov M.V., Mattson M.P., Dawson T.M., Dawson V.L. The AAA(+) ATPase thorase regulates AMPA receptor-dependent synaptic plasticity and behavior. Cell 145, 284-299 (2011) PubMed

Zhou J., Shrikhande G., Xu J., McKay R.M., Burns D.K., Johnson J.E., Parada L.F. TSC1 mutant neural stem/progenitor cells exhibit migration deficits and give rise to subependymal lesions in the lateral ventricle. Genes Dev. 25, 1595-1600 (2011) PubMed

SSC (2011)

Davit C.J., Hundley R.J., Bacic J.D., Hanson E.M. A pilot study to improve venipuncture compliance in children and adolescents with autism spectrum disorders. J. Dev. Behav. Pediatr. 32, 521-525 (2011) PubMed

Girirajan S., Brkanac Z., Coe B.P., Baker C., Vives L., Vu T.H., Shafer N., Bernier R., Ferrero G.B., Silengo M., Warren S.T., Moreno C.S., Fichera M., Romano C., Raskind W.H., Eichler E.E. Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLOS Genet. 7, e1002334 (2011) PubMed

Kanne S.M., Gerber A.J., Quirmbach L.M., Sparrow S.S., Cicchetti D.V., Saulnier, C.A. The role of adaptive behavior in autism spectrum disorders: Implications for functional outcome. J. Autism Dev. Disord. 41, 1007-1018 (2011) PubMed

Kanne S. and M.O. Mazurek Aggression in children and adolescents with ASD: Prevalence and risk factors. J. Autism Dev. Disord. 41, 926-937 (2011) PubMed

O'Roak B.J., Deriziotis P., Lee C., Vives L., Schwartz J.J., Girirajan S., Karakoc E., Mackenzie A.P., Ng S.B., Baker C., Rieder M.J., Nickerson D.A., Bernier R., Fisher S.E., Shendure J., Eichler E.E. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat. Genet. 43, 585-589 (2011) PubMed

Sanders S.J., Ercan-Sencicek A.G., Hus V., Luo R., Murtha M.T., Moreno-De-Luca D., Chu S.H., Moreau M.P., Gupta A.R., Thomson S.A., Mason C.E., Bilguvar K., Celestino-Soper P.B., Choi M., Crawford E.L., Davis L., Wright N.R., Dhodapkar R.M., DiCola M., DiLullo N.M., Fernandez T.V., Fielding-Singh V., Fishman D.O., Frahm S., Garagaloyan R., Goh G.S., Kammela S., Klei L., Lowe J.K., Lund S.C., McGrew A.D., Meyer K.A., Moffat W.J., Murdoch J.D., O'Roak B.J., Ober G.T., Pottenger R.S., Raubeson M.J., Song Y., Wang Q., Yaspan B.L., Yu T.W., Yurkiewicz I.R., Beaudet A.L., Cantor R.M., Curland M., Grice D.E., Günel M., Lifton R.P., Mane S.M., Martin D.M., Shaw C.A., Sheldon M., Tischfield J.A., Walsh C.A., Morrow E.M., Ledbetter D.H., Fombonne E., Lord C., Martin C.L., Brooks A.I., Sutcliffe J.S., Cook E.H. Jr., Geschwind D., Roeder K., Devlin B., State M.W. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70, 863-885 (2011) PubMed

Schaaf, C.P., Sabo, A., Sakai, Y., Crosby, J., Muzny, D., Hawes, A., Lewis, L., Akbar, H., Varghese, R., Boerwinkle, E., Gibbs, R.A., Zoghbi, H.Y. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum. Mol. Genet. 20, 3366-3375 (2011) PubMed

Schanding G.T. Jr., Nowell K.P., Goin-Kochel R.P. Utility of the Social Communication Questionnaire-Current and Social Responsiveness Scale as teacher-report screening tools for autism spectrum disorders. J. Autism Dev. Disord. 42, 1705-1716 (2011) PubMed

2010

de Anda F.C., Meletis K., Ge X., Rei D., Tsai L-H. Centrosome motility is essential for initial axon formation in the neocortex. J. Neurosci. 30,10391-10406 (2010) PubMed

Allman J.M., Tetreault N.A., Hakeem A.Y., Manaye K.F., Semendeferi K., Erwin J.M., Park S., Goubert V., Hof P.R. The von Economo neurons in frontoinsular and anterior cingulate cortex in great apes and humans. Brain Struct. Funct. 214, 495-517 (2010) PubMed

Arguello P.A. and J.A. Gogos Cognition in mouse models of schizophrenia susceptibility genes. Schizophr. Bull. 36, 289-300 (2010) PubMed

Banerjee-Basu S. and A. Packer SFARI Gene: An evolving database for the autism research community. Dis. Model Mech. 3, 133-135 (2010) PubMed

Bateup H.S., Santini E., Shen W., Birnbaum S., Valjent E., Surmeier D.J., Fisone G., Nestler E.J., Greengard P. Distinct subclasses of medium spiny neurons differentially regulate striatal motor behaviors. Proc. Natl. Acad. Sci. U.S.A. 107, 14845-14850 (2010) PubMed

Blundell J., Blaiss C.A., Etherton M.R., Espinosa F., Tabuchi K., Walz C., Bolliger M.F., Südhof T.C., Powell C.M. Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior. J. Neurosci. 30, 2115-2129 (2010) PubMed

Bolling D.Z., Pitskel N.B., Deen B., Crowley M.J., McPartland J.C., Mayes L.C., Pelphrey K.A. Dissociable brain mechanisms for processing social exclusion and rule violation. Neuroimage 54, 2462-2471 (2011) PubMed

Bozdagi O., Sakurai T., Papapetrou D., Wang X., Dickstein D.L., Takahashi N., Kajiwara Y., Yang M., Katz A.M., Scattoni M.L., Harris M.J., Saxena R., Silverman J.L., Crawley J.N., Zhou Q., Hof P.R., Buxbaum J.D. Haploinsufficiency of the autism-associated SHANK3 gene leads to deficits in synaptic function, social interaction, and social communication. Mol. Autism 1, 15 (2010) PubMed

Buie T., Campbell D.B., Fuchs G.J., Furuta G.T., Levy J., Vandewater J., Whitaker A.H., Atkins D., Bauman M.L., Beaudet A.L., Carr E.G., Gershon M.D., Hyman S.L., Jirapinyo P., Jyonouchi H., Kooros K., Kushak R., Levitt P., Levy S.E., Lewis J.D., Murray K.F., Natowicz M.R., Sabra A., Wershil B.K., Weston S.C., Zeltzer L., Winter H. Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report. Pediatrics 125 Suppl 1, S1-S18 (2010) PubMed

Chao H-T., Chen H., Samaco R.C., Xue M., Chahrour M., Yoo J., Neul J.L., Gong S., Lu H-C., Heintz N., Ekker M., Rubenstein J.L.R., Noebels J.L., Rosenmund C., Zoghbi H.Y. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature 468, 263-269 (2010) PubMed

Ching M.S.L., Shen Y., Tan W-H., Jeste S.S., Morrow E.M., Chen X., Mukaddes N.M., Yoo S-Y., Hanson E., Hundley R., Austin C., Becker R.E., Berry G.T., Driscoll K., Engle E.C., Friedman S., Gusella J.F., Hisama F.M., Irons M.B., Lafiosca T., LeClair E., Miller D.T., Neessen M., Picker J.D., Rappaport L., Rooney C.M., Sarco D.P., Stoler J.M., Walsh C.A., Wolff R.R., Zhang T., Nasir R.H., Wu B-L. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am. J. Med. Genet. B. Neuropsychiatr. Genet. 153B, 937-947 (2010) PubMed

De Martino B., Camerer C.F., Adolphs R. Amygdala damage eliminates monetary loss aversion. Proc. Natl. Acad. Sci. U.S.A. 107, 3788-3792 (2010) PubMed

Fischbach G.D. and C. Lord The Simons Simplex Collection: a resource for identification of autism genetic risk factors. Neuron 68, 192-195 (2010) PubMed

Girirajan S., Rosenfeld J.A., Cooper G.M., Antonacci F., Siswara P., Itsara A., Vives L., Walsh T., McCarthy S.E., Baker C., Mefford H.C., Kidd J.M., Browning S.R., Browning B.L., Dickel D.E., Levy D.L., Ballif B.C., Platky K., Farber D.M., Gowans G.C., Wetherbee J.J., Asamoah A., Weaver D.D., Mark P.R., Dickerson J., Garg B.P., Ellingwood S.A., Smith R., Banks V.C., Smith W., McDonald M.T., Hoo J.J., French B.N., Hudson C., Johnson J.P., Ozmore J.R., Moeschler J.B., Surti U., Escobar L.F., El-Khechen D., Gorski J.L., Kussmann J., Salbert B., Lacassie Y., Biser A., McDonald-McGinn D.M., Zackai E.H., Deardorff M.A., Shaikh T.H., Haan E., Friend K.L., Fichera M., Romano C., Gécz J., DeLisi L.E., Sebat J., King M-C., Shaffer L.G., Eichler E.E. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat. Genet. 42, 203-209 (2010) PubMed

Gläscher J., Rudrauf D., Colom R., Paul L.K., Tranel D., Damasio H., Adolphs R. Distributed neural system for general intelligence revealed by lesion mapping. Proc. Natl. Acad. Sci. U.S.A. 107, 4705-4709 (2010) PubMed

Itsara A., Wu H., Smith J.D., Nickerson D.A., Romieu I., London S.J., Eichler E.E. De novo rates and selection of large copy number variation. Genome Res. 20, 1469-1481 (2010) PubMed

Kaiser M.D., Delmolino L., Tanaka J.W., Shiffrar M. Comparison of visual sensitivity to human and object motion in autism spectrum disorder. Autism Res. 3, 191-195 (2010) PubMed

Kaiser M.D., Hudac C.M., Shultz S., Lee S.M., Cheung C., Berken A.M., Deen B., Pitskel N.B., Sugrue D.R., Voos A.C., Saulnier C.A., Ventola P., Wolf J.M., Klin A., Vander Wyk B.C., Pelphrey K.A. Neural signatures of autism. Proc. Natl. Acad. Sci. U.S.A. 107, 21223-21228 (2010) PubMed

Kanne S.M., Gerber A.J., Quirmbach L.M., Sparrow S.S., Cicchetti D.V., Saulnier C.A. The role of adaptive behavior in autism spectrum disorders: implications for functional outcome. J. Autism Dev. Disord. 41, 1007-1018 (2010) PubMed

Kanne S.M. and M.O. Mazurek Aggression in children and adolescents with ASD: prevalence and risk factors. J. Autism Dev. Disord. 41, 926-937 (2010) PubMed

Karayiorgou M., Simon T.J., Gogos J.A. 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat. Rev. Neurosci. 11, 402-416 (2010) PubMed

Kennedy D.P. and R. Adolphs Impaired fixation to eyes following amygdala damage arises from abnormal bottom-up attention. Neuropsychologia 48, 3392-3398 (2010) PubMed

Krueger D.D., Osterweil E.K., Bear M.F. Activation of mGluR5 induces rapid and long-lasting protein kinase D phosphorylation in hippocampal neurons. J. Mol. Neurosci. 42, 1-8 (2010) PubMed

Lovejoy L.P. and R.J. Krauzlis Inactivation of primate superior colliculus impairs covert selection of signals for perceptual judgments. Nat. Neurosci. 13, 261-266 (2010) PubMed

Mazurek M.O.and S.M. Kanne Friendship and internalizing symptoms among children and adolescents with ASD. J. Autism Dev. Disord. 40, 1512-1520 (2010) PubMed

Miyoshi G., Hjerling-Leffler J., Karayannis T., Sousa V.H., Butt S.J.B., Battiste J., Johnson J.E., Machold R.P., Fishell G. Genetic fate mapping reveals that the caudal ganglionic eminence produces a large and diverse population of superficial cortical interneurons. J. Neurosci. 30, 1582-1594 (2010) PubMed

Mochida G.H., Ganesh V.S., Felie J.M., Gleason D., Hill R.S., Clapham K.R., Rakiec D., Tan W-H., Akawi N., Al-Saffar M., Partlow J.N., Tinschert S., Barkovich A.J., Ali B., Al-Gazali L., Walsh C.A. A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am. J. Hum. Genet. 87, 882-889 (2010) PubMed

Moreno-De-Luca D., Mulle J.G., Kaminsky E.B., Sanders S.J., Myers S.M., Adam M.P., Pakula A.T., Eisenhauer N.J., Uhas K., Weik L., Guy L., Care M.E., Morel C.F., Boni C., Salbert B.A., Chandrareddy A., Demmer L.A., Chow E.W.C., Surti U., Aradhya S., Pickering D.L., Golden D.M., Sanger W.G., Aston E., Brothman A.R., Gliem T.J., Thorland E.C., Ackley T., Iyer R., Huang S., Barber J.C., Crolla J.A., Warren S.T., Martin C.L., Ledbetter D.H. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am. J. Hum. Genet. 87, 618-630 (2010) PubMed

Morgan J.T., Chana G., Pardo C.A., Achim C., Semendeferi K., Buckwalter J., Courchesne E., Everall I.P.Microglial activation and increased microglial density observed in the dorsolateral prefrontal cortex in autism.Biol. Psychiatry68, 368-376 (2010) PubMed

Noor A., Whibley A., Marshall C.R., Gianakopoulos P.J., Piton A., Carson A.R., Orlic-Milacic M., Lionel A.C., Sato D., Pinto D., Drmic I., Noakes C., Senman L., Zhang X., Mo R., Gauthier J., Crosbie J., Pagnamenta A.T., Munson J., Estes A.M., Fiebig A., Franke A., Schreiber S., Stewart A.F.R., Roberts R., McPherson R., Guter S.J., Cook E.H., Dawson G., Schellenberg G.D., Battaglia A., Maestrini E., Jeng L., Hutchison T., Rajcan-Separovic E., Chudley A.E., Lewis S.M.E., Liu X., Holden J.J., Fernandez B., Zwaigenbaum L., Bryson S.E., Roberts W., Szatmari P., Gallagher L., Stratton M.R., Gecz J., Brady A.F., Schwartz C.E., Schachar R.J., Monaco A.P., Rouleau G.A., Hui C-C., Lucy Raymond F., Scherer S.W., Vincent J.B. Disruption at the PTCHD1 locus on Xp22.11 in autism spectrum disorder and intellectual disability. Sci. Transl. Med. 2, 49ra68 (2010) PubMed

Osterweil E.K., Krueger D.D., Reinhold K., Bear M.F. Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome. J. Neurosci. 30, 15616-15627 (2010) PubMed

Pagnamenta A.T., Bacchelli E., de Jonge M.V., Mirza G., Scerri T.S., Minopoli F., Chiocchetti A., Ludwig K.U., Hoffmann P., Paracchini S., Lowy E., Harold D.H., Chapman J.A., Klauck S.M., Poustka F., Houben R.H., Staal W.G., Ophoff R.A., O’Donovan M.C., Williams J., Nöthen M.M., Schulte-Körne G., Deloukas P., Ragoussis J., Bailey A.J., Maestrini E., Monaco A.P. Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biol. Psychiatry 68, 320-328 (2010) PubMed

Pagnamenta A.T., Khan H., Walker S., Gerrelli D., Wing K., Bonaglia M.C., Giorda R., Berney T., Mani E., Molteni M., Pinto D., Le Couteur A., Hallmayer J., Sutcliffe J.S., Szatmari P., Paterson A.D., Scherer S.W., Vieland V.J., Monaco A.P. Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. J. Med. Genet. 48, 48-54 (2011) PubMed

Parr J.R., Le Couteur A., Baird G., Rutter M., Pickles A., Fombonne E., Bailey A.J. Early developmental regression in autism spectrum disorder: evidence from an international multiplex sample. J. Autism Dev. Disord. 41, 332-340 (2011) PubMed

Paul L.K., Corsello C., Tranel D., Adolphs R. Does bilateral damage to the human amygdala produce autistic symptoms? J. Neurodev. Disord. 2, 165-173 (2010) PubMed

Pfeiffer B.E., Zang T., Wilkerson J.R., Taniguchi M., Maksimova M.A., Smith L.N., Cowan C.W., Huber K.M. Fragile X mental retardation protein is required for synapse elimination by the activity-dependent transcription factor MEF2. Neuron 66, 191-197 (2010) PubMed

Redcay E., Dodell-Feder D., Pearrow M.J., Mavros P.L., Kleiner M., Gabrieli J.D., Saxe R. Live face-to-face interaction during fMRI : A new tool for social cognitive neuroscience. Neuroimage 50, 1639-1647 (2010) PubMed

Shen J., Gilmore E.C., Marshall C.A., Haddadin M., Reynolds J.J., Eyaid W., Bodell A., Barry B., Gleason D., Allen K., Ganesh V.S., Chang B.S., Grix A., Hill R.S., Topcu M., Caldecott K.W., Barkovich A.J., Walsh C.A. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat. Genet. 42, 245-249 (2010) PubMed

Shen Y., Dies K.A., Holm I.A., Bridgemohan C., Sobeih M.M., Caronna E.B., Miller K.J., Frazier J.A., Silverstein I., Picker J., Weissman L., Raffalli P., Jeste S., Demmer L.A., Peters H.K., Brewster S.J., Kowalczyk S.J., Rosen-Sheidley B., McGowan C., Duda A.W., Lincoln S.A., Lowe K.R., Schonwald A., Robbins M., Hisama F., Wolff R., Becker R., Nasir R., Urion D.K., Milunsky J.M., Rappaport L., Gusella J.F., Walsh C.A., Wu B-L., Miller D.T. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 125, e727-35 (2010) PubMed

Sheng L., Ding X., Ferguson M., McCallister M., Rhoades R., Maguire M., Ramesh A., Aschner M., Campbell D., Levitt P., Hood D.B. Prenatal polycyclic aromatic hydrocarbon exposure leads to behavioral deficits and downregulation of receptor tyrosine kinase, MET. Toxicol. Sci. 118, 625-634 (2010) PubMed

Shiffrar M., Kaiser M.D., Chouchourelou A. (2010) Seeing Human Movement as Inherently Social. In R.B. Adams, Jr., N. Ambady, K. Nakayama, S. Shimojo (Eds.), The Science of Social Vision (pp. 262-277). New York: Oxford University Press.

Sigurdsson T., Stark K.L., Karayiorgou M., Gogos J.A., Gordon J.A. Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia. Nature 464, 763-767 (2010) PubMed

Sousa I., Clark T.G., Holt R., Pagnamenta A.T., Mulder E.J., Minderaa R.B., Bailey A.J., Battaglia A., Klauck S.M., Poustka F., Monaco A.P. Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. Mol. Autism 1, 7 (2010) PubMed

Tager-Flusberg H. The origins of social impairments in autism spectrum disorder: studies of infants at risk. Neural Netw. 23, 1072-1076 (2010) PubMed

Thomas J.P. and M. Shiffrar I can see you better if I can hear you coming: action-consistent sounds facilitate the visual detection of human gait. J. Vis. 10, 14 (2010) PubMed

Tricoire L., Pelkey K.A., Daw M.I., Sousa V.H., Miyoshi G., Jeffries B., Cauli B., Fishell G., McBain C.J. Common origins of hippocampal Ivy and nitric oxide synthase expressing neurogliaform cells. J. Neurosci. 30, 2165-2176 (2010) PubMed

Wallace S., Sebastian C., Pellicano E., Parr J., Bailey A. Face processing abilities in relatives of individuals with ASD. Autism Res. 3, 345-349 (2010) PubMed

Walsh C.A. and E.C. Engle Allelic diversity in human developmental neurogenetics: insights into biology and disease. Neuron 68, 245-253 (2010) PubMed

Xu B., Karayiorgou M., Gogos J.A. MicroRNAs in psychiatric and neurodevelopmental disorders. Brain Res. 1338, 78-88 (2010) PubMed

Zhang C., Atasoy D., Araç D., Yang X., Fucillo M.V., Robison A.J., Ko J., Brunger A.T., Südhof T.C. Neurexins physically and functionally interact with GABA(A) receptors. Neuron 66, 403-416 (2010) PubMed

SSC (2010)

Kaiser M.D., Hudac C.M., Shultz S., Lee S.M., Cheung C., Berken A.M., Deen B., Pitskel N.B., Sugrue D.R., Voos A.C., Saulnier C.A., Ventola P., Wolf J.M., Klin A., Vander Wyk B.C., Pelphrey, K.A. Neural signatures of autism. Proc. Natl. Acad. Sci. USA 107, 21223-21228 (2010) PubMed

Mazurek M.O. and S. Kanne Friendship and internalizing symptoms among children and adolescents with ASD. J. Autism Dev. Disord. 40, 1512-1520 (2010) PubMed

Moreno-De-Luca D., SGENE Consortium, Mulle J.G., Simons Simplex Collection Genetics Consortium, Kaminsky E.B., Sanders S.J., GeneSTAR, Myers S.M., Adam M.P., Pakula A.T., Eisenhauer N.J., Uhas K., Weik L., Guy L., Care M.E., Morel C.F., Boni C., Salbert B.A., Chandrareddy A., Demmer L.A., Chow E.W., Surti U., Aradhya S., Pickering D.L., Golden D.M., Sanger W.G., Aston E., Brothman A.R., Gliem T.J., Thorland E.C., Ackley T., Iyer R., Huang S., Barber J.C., Crolla J.A., Warren S.T., Martin C.L., Ledbetter D.H. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am. J. Hum. Genet. 87, 618-630 (2010) PubMed

2009

Batista-Brito R., Rossignol E., Hjerling-Leffler J., Denaxa M., Wegner M., Lefebvre V., Pachnis V., Fishell G. The cell-intrinsic requirement of Sox6 for cortical interneuron development. Neuron 63, 466-481 (2009) PubMed

Ben-Shachar S., Chahrour M., Thaller C., Shaw C.A. Zoghbi H.Y. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum. Mol. Genet. 18, 2431-42 (2009) PubMed

Campbell D.B., Buie T.M., Winter H., Bauman M., Sutcliffe J.S., Perrin J.M., Levitt P. Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions. Pediatrics 123, 1018-1024 (2009) PubMed

Etherton M.R., Blaiss C.A., Powell C.M., Südhof T.C. Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments. Proc. Natl. Acad. Sci. USA 106, 17998-18003 (2009) PubMed

Gibson J.R., Huber K.M., Südhof T.C. Neuroligin-2 deletion selectively decreases inhibitory synaptic transmission originating from fast-spiking but not from somatostatin-positive interneurons. J. Neurosci. 29, 13883-13897 (2009) PubMed

Gogolla N., LeBlanc J.J., Quast K.B., Südhof T.C., Fagiolini M., Hensch T.K. Common circuit defect of excitatory-inhibitory balance in mouse models of autism. J. Neurodev. Disord. 1, 172-181 (2009) PubMed

Horng S., Kreiman G., Ellsworth C., Page D., Blank M., Millen K., Sur M. Differential gene expression in the developing lateral geniculate nucleus and medial geniculate nucleus reveals novel roles for ZIC4 and FOXP2 in visual and auditory pathway development. J. Neurosci. 29, 13672-13683 (2009) PubMed

Kaiser M.D. and M. Shiffrar The visual perception of motion by observers with autism spectrum disorders: a review and synthesis. Psychon. Bull. Rev. 16, 761-777 (2009) PubMed

Kennedy D.P., Gläscher J., Tyszka J.M., Adolphs R. Personal space regulation by the human amygdala. Nat. Neurosci. 12, 1226-1227 (2009) PubMed

Ko J., Fuccillo M.V., Malenka R.C., Südhof T.C. LRRTM2 functions as a neurexin ligand in promoting excitatory synapse formation. Neuron 64, 791-798 (2009) PubMed

Ko J., Zhang C., Arac D., Boucard A.A. Brunger A.T., Südhof T.C. Neuroligin-1 performs neurexin-dependent and neurexin-independent functions in synapse validation. EMBO J. 28, 3244-3255 (2009) PubMed

Leamey C.A., Van Wart A., Sur M. Intrinsic patterning and experience-dependent mechanisms that generate eye-specific projections and binocular circuits in the visual pathway. Curr. Opin. Neurobiol. 19, 181-187 (2009) PubMed

Maestrini E., Pagnamenta A.T., Lamb J.A., Bacchelli E., Sykes N.H., Sousa I., Toma C., Barnby G., Butler H., Winchester L., Scerri T.S., Minopoli F., Reichert J., Cai G., Buxbaum J.D., Korvatska O., Schellenberg G.D., Dawson G., Bildt A.D., Minderaa R.B., Mulder E.J., Morris A.P., Bailey A.J., Monaco A.P. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. Mol. Psychiatry 15, 954-968 (2009) PubMed

Mao R., Page D.T., Merzlyak I., Kim C., Tecott L.H., Janak P.H., Rubenstein J.L.R., Sur M. Reduced conditioned fear response in mice that lack DLX1 and show subtype-specific loss of interneurons. J. Neurodev. Disord. 1,224-236 (2009) PubMed

McCoy P.A., Huang H-S., Philpot B.D. Advances in understanding visual cortex plasticity. Curr. Opin. Neurobiol. 19, 298-304 (2009) PubMed

Mochida G.H., Mahajnah M., Hill A.D., Basel-Vanagaite L., Gleason D., Hill R.S., Bodell A., Crosier M., Straussberg R., Walsh C.A. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Am. J. Hum. Genet. 85, 897-902 (2009) PubMed

Page D.T., Kuti O.J., Prestia C., Sur M. Haploinsufficiency for PTEN and serotonin transporter cooperatively influences brain size and social behavior. Proc. Natl. Acad. Sci. U.S.A. 106,1989-1994 (2009) PubMed

Pagnamenta A.T., Wing K., Sadighi Akha E., Knight S.J.L., Bölte S., Schmötzer G., Duketis E., Poustka F., Klauck S.M., Poustka A., Ragoussis J., Bailey A.J., Monaco A.P. A 15q13.3 microdeletion segregating with autism. Eur. J. Hum. Genet. 17, 687-692 (2009) PubMed

Pagnamenta A.T., Monaco A.P. Chromosomal copy number variation in psychiatric disorders. Eur. Psychiatr. Rev. 2, 8-12 (2009)

Philippi C.L., Mehta S., Grabowski T., Adolphs R., Rudrauf D. Damage to association fiber tracts impairs recognition of the facial expression of emotion. J. Neurosci. 29, 15089-15099 (2009) PubMed

Pinto J. and M. Shiffrar The visual perception of human and animal motion in point-light displays. Soc. Neurosci. 4, 332-346 (2009) PubMed

Poduri A., Wang Y., Gordon D., Barral-Rodriguez S., Barker-Cummings C., Ulgen A., Chitsazzadeh V., Hill R.S., Risch N., Hauser W.A., Pedley T.A., Walsh C.A., Ottman R. Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+. Neurology 73, 1264-1272 (2009) PubMed

Samaco R.C., Mandel-Brehm C., Chao H-T., Ward C.S., Fyffe-Maricich S.L., Ren J., Hyland K., Thaller C., Maricich S.M., Humphreys P., Greer J.J., Percy A., Glaze D.G., Zoghbi H.Y., Neul J.L. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc. Natl. Acad. Sci. U.S.A. 106, 21966-21971 (2009) PubMed

Sousa I., Clark T.G., Toma C., Kobayashi K., Choma M., Holt R., Sykes N.H., Lamb J.A., Bailey A.J., Battaglia A., Maestrini E., Monaco A.P. MET and autism susceptibility: family and case-control studies. Eur. J. Hum. Genet. 17, 749-758 (2009) PubMed

Sykes N.H., Toma C., Wilson N., Volpi E.V., Sousa I., Pagnamenta A.T., Tancredi R., Battaglia A., Maestrini E., Bailey A.J., Monaco A.P. Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. Eur. J. Hum. Genet. 17, 1347-1353 (2009) PubMed

Tropea D., Giacometti E., Wilson N.R., Beard C., McCurry C., Fu D.D., Flannery R., Jaenisch R., Sur M. Partial reversal of Rett syndrome-like symptoms in MeCP2 mutant mice. Proc. Natl. Acad. Sci. U.S.A. 106, 2029-2034 (2009) PubMed

Tsuchiya N., Moradi F., Felsen C., Yamazaki M., Adolphs R. Intact rapid detection of fearful faces in the absence of the amygdala. Nat. Neurosci. 12, 1224-1225 (2009) PubMed

Yashiro K., Riday T.T., Condon K.H., Roberts A.C., Bernardo D.R., Prakash R., Weinberg R.J., Ehlers M.D., Philpot B.D. UBE3A is required for experience-dependent maturation of the neocortex. Nat. Neurosci. 12, 777-783 (2009) PubMed

Zhang C., Milunsky J.M., Newton S., Ko J., Zhao G., Maher T.A., Tager-Flusberg H., Bolliger M.F., Carter A.S., Boucard A.A., Powell C.M., Südhof T.C. A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export. J. Neurosci. 29, 10843-10854 (2009) PubMed

Zhou J., Blundell J., Ogawa S., Kwon C-H., Zhang W., Sinton C., Powell C.M., Parada L.F. Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific PTEN knock-out mice. J. Neurosci. 29, 1773-1783 (2009) PubMed

SSC (2009)

Miller D.T., Nasir R., Sobeih M.M., Shen Y., Wu B-L, Hundley R., Hanson E. (September 2009). 16p11.2 deletion syndrome. GeneReviews at GeneTests, Copyright University of Washington, Seattle. Available at http://www.genetests.org

Wang K., Zhang H., Ma D., Bucan M., Glessner G.T., Abrahams B.S., Salyakina D., Imielinski M., Bradfield J.P., Sleiman P.M., Kim C.E., Hou C., Frackleton E. Chiavacci R., Takahashi N., Sakurai T., Rappaport E., Lajonchere C.M., Munson J., Estes A., Korvatska O., Piven J., Sonnenblick L.I., Retuerto A.I., Herman E.I., Dong H., Hutman T., Sigman M., Ozonoff, S., Klin, A., Owley, T., Sweeney, J.A., Brune, C.W., Cantor, R., Bernier, R., Gilbert, J.R., Cuccaro, M.L., McMahon W.M., Miller J., State M.W., Wassink T.H., Coon H., Levy S.E., Schultz R.T., Nurnberger J.I., Haines J.L., Sutcliffe J.S., Cook E.H., Minshew N.J., Buxbaum J.D., Dawson G., Grant S.F., Geschwind D.H., Pericak-Vance M.A., Schellenberg G.D., Hakonarson H. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459, 528-33 (2009) PubMed

Weiss L.A., Arking D.E., Gene Discovery Project of Johns Hopkins & the Autism Consortium, Daly M.J., Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature 461, 802-808 (2009) PubMed

2008

Bateup H.S., Svenningsson P., Kuroiwa M., Gong S., Nishi A., Heintz N., Greengard P. Cell type-specific regulation of DARPP-32 phosphorylation by psychostimulant and antipsychotic drugs. Nat. Neurosci. 11, 932-939 (2008) PubMed

Bear M.F., Dölen G., Osterweil E., Nagarajan N. Fragile X: translation in action. Neuropsychopharmacology 33, 84-87 (2008) PubMed

Bolliger M.F., Pei J., Maxeiner S., Boucard A.A. Grishin N.V., Südhof T.C. Unusually rapid evolution of neuroligin-4 in mice. Proc. Natl. Acad. Sci. U.S.A. 105, 6421-6426 (2008) PubMed

Chahrour M., Jung S.Y., Shaw C., Zhou X., Wong S.T.C., Qin J., Zoghbi H.Y. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 320, 1224-1229 (2008) PubMed

Dölan G. and M.F. Bear Role for metabotropic glutamate receptor 5 ( mGluR5 ) in the pathogenesis of fragile X syndrome. J. Physiol. 586, 1503-1508 (2008) PubMed

Doyle J.P., Dougherty J.D., Heiman M., Schmidt E.F., Stevens T.R., Ma G., Bupp S., Shrestha P., Shah R.D., Doughty M.L., Gong S., Greengard P., Heintz N. Application of a translational profiling approach for the comparative analysis of CNS cell types. Cell 135, 749-762 (2008) PubMed

Flajolet M., Wang Z., Futter M., Shen W., Nuangchamnong N., Bendor J., Wallach I., Nairn A.C., Surmeier D.J., Greengard P. FGF acts as a co-transmitter through adenosine A(2A) receptor to regulate synaptic plasticity. Nat. Neurosci. 11, 1402-1409 (2008) PubMed

Fyffe S.L., Neul J.L., Samaco R.C., Chao H-T., Ben-Shachar S., Moretti P., McGill B.E., Goulding E.H., Sullivan E., Tecott L.H., Zoghbi H.Y. Deletion of MeCP2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron 59, 947-958 (2008) PubMed

Gilad S., Meng M., Sinha P. Role of ordinal contrast relationships in face encoding. Proc. Natl. Acad. Sci. U.S.A. 106, 5353-5358 (2008) PubMed

Heiman M., Schaefer A., Gong S., Peterson J.D., Day M., Ramsey K.E., Suárez-Fariñas M., Schwarz C., Stephan D.A. Surmeier D.J., Greengard P., Heintz N. A translational profiling approach for the molecular characterization of CNS cell types. Cell 135, 738-748 (2008) PubMed

Lyckman A.W., Horng S., Leamey C.A., Tropea D., Watakabe A., Van Wart A., McCurry C., Yamamori T., Sur M. Gene expression patterns in visual cortex during the critical period : Synaptic stabilization and reversal by visual deprivation. Proc. Natl. Acad. Sci. U.S.A. 105, 9409-9414 (2008) PubMed

Morrow E.M., Yoo S-Y., Flavell S.W., Kim T-K., Lin Y., Hill R.S., Mukaddes N.M., Balkhy S., Gascon G., Hashmi A., Al-Saad S., Ware J., Joseph R.M., Greenblatt R., Gleason D., Ertelt J.A., Apse K.A., Bodell A., Partlow J.N., Barry B., Yao H., Markianos K., Ferland R.J., Greenberg M.E., Walsh C.A. Identifying autism loci and genes by tracing recent shared ancestry. Science 321, 218-223 (2008) PubMed

Mukherjee K., Sharma M., Urlaub H., Bourenkov G.P., Jahn R., Südhof T.C., Wahl M.C. CASK functions as a Mg2+-independent neurexin kinase. Cell 133, 328-339 (2008) PubMed

Ramocki M.B. and H.Y. Zoghbi Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature 455, 912-918 (2008) PubMed

Schummers J., Yu H., Sur M. Tuned responses of astrocytes and their influence on hemodynamic signals in the visual cortex. Science 320, 1638-1643 (2008) PubMed

Südhof T.C. Neuroligins and neurexins link synaptic function to cognitive disease. Nature 455, 903-911 (2008) PubMed

Südhof T.C. and R.C. Malenka Understanding synapses: past, present, and future. Neuron 60, 469-476 (2008) PubMed

Walsh C.A., Morrow E.M., Rubenstein J.L.R. Autism and brain development. Cell 135, 396-400 (2008) PubMed

Weiss L.A., Shen Y., Korn J.M., Arking D.E., Miller D.T., Fossdal R., Saemundsen E., Stefansson H., Ferreira M.A.R., Green T., Platt O.S., Ruderfer D.M., Walsh C.A., Altshuler D., Chakravarti A., Tanzi R.E., Stefansson K., Santangelo S.L., Gusella J.F., Sklar P., Wu B-L., Daly M.J. Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 358, 667-675 (2008) PubMed

Zhang X., Andren P.E., Greengard P., Svenningsson P. Evidence for a role of the 5-HT 1B receptor and its adaptor protein, p11, in L -DOPA treatment of an animal model of Parkinsonism. Proc. Natl. Acad. Sci. U.S.A. 105, 2163-2168 (2008) PubMed

2007

Adolphs R., Spezio M.L., Parlier M., Piven J. Distinct face-processing strategies in parents of autistic children. Curr. Biol. 18, 1090-1093 (2008) PubMed

Araç D., Boucard A.A., Ozkan E., Strop P., Newell E., Südhof T.C., Brunger A.T. Structures of neuroligin-1 and the neuroligin-1/neurexin-1 beta complex reveal specific protein-protein and protein-Ca2+ interactions. Neuron 56, 992-1003 (2007) PubMed

Bergmeier W., Goerge T., Wang H-W., Crittenden J.R., Baldwin A.C.W., Cifuni S.M., Housman D.E., Graybiel A.M., Wagner D.D. Mice lacking the signaling molecule CalDAG-GEFI represent a model for leukocyte adhesion deficiency type III. J. Clin. Invest. 117, 1699-1707 (2007) PubMed

Dölen G., Osterweil E., Rao B.S.S., Smith G.B., Auerbach D.B., Chattarji S., Bear M.F. Correction of fragile X syndrome in mice. Neuron 56, 955-962 (2007) PubMed

Hayashi M.L., Rao B.S.S., Seo J-S., Choi H-S., Dolan B.M., Choi S-Y., Chattarji S., Tonegawa S. Inhibition of p21-activated kinase rescues symptoms of fragile X syndrome in mice. Proc. Natl. Acad. Sci. U.S.A. 104, 11489–11494 (2007) PubMed

Leamey C.A., Merlin S., Lattouf P., Sawatari A., Zhou X., Demel N., Glendining K.A., Oohashi T., Sur M., Fässler R. Ten_m3 regulates eye-specific patterning in the mammalian visual pathway and is required for binocular vision. PLoS Biol. 5, e241 (2007) PubMed

Sebat J., Lakshmi B., Malhotra D., Troge J., Lese-Martin C., Walsh T., Yamrom B., Yoon S., Krasnitz A., Kendall J., Leotta A., Pai D., Zhang R., Lee Y-H., Hicks J., Spence S.J., Lee A.T., Puura K., Lehtimäki T., Ledbetter D., Gregersen P.K., Bregman J., Sutcliffe J.S., Jobanputra V., Chung W., Warburton D., King M-C., Skuse D., Geschwind D.H., Gilliam T.C., Ye K., Wigler M. Strong association of de novo copy number mutations with autism. Science 316, 445-449 (2007) PubMed

Tabuchi K., Blundell J., Etherton M.R., Hammer R.E., Liu X., Powell C.M., Südhof T.C. A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science 318, 71-76 (2007) PubMed

2006

Amadio J.P. and C.A. Walsh Brain evolution and uniqueness in the human genome. Cell 126, 1033-1035 (2006) PubMed

Ehrman L., Williams M.T., Schaefer T.L., Gudelsky G.A., Reed T.M., Fienberg A.A., Greengard P., Vorhees C.V. Phosphodiesterase 1B differentially modulates the effects of methamphetamine on locomotor activity and spatial learning through DARPP32-dependent pathways: evidence from PDE1B-DARPP32 double-knockout mice. Genes Brain Behav. 5, 540-551 (2006) PubMed

Lee K-W., Kim Y., Kim A.M., Helmin K., Nairn A.C., Greengard P. Cocaine-induced dendritic spine formation in D1 and D2 dopamine receptor-containing medium spiny neurons in nucleus accumbens. Proc. Natl. Acad. Sci. U.S.A. 103, 3399-3404 (2006) PubMed