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 phenotype data or biospecimens from the Simons Simplex Collection or Simons Variation in Individuals Project. We plan to update this list on a quarterly basis.
Please contact publications@simonsfoundation.org if you notice omissions or have a new publication you’d like us to add.
2012 2011 2010 2009 2008 2007 2006
2012
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
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
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
2011
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
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
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
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
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
Solari S.V.H., and R. Stoner Cognitive consilience: primate non-primary neuroanatomical circuits underlying cognition. Front. Neuroanat. 5, 65 (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
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
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
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
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
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
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
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. Nature 472, 437–442 (2011) Abstract
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
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
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
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
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
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
Fishell G. and B. Rudy Mechanisms of inhibition within the telencephalon: “where the wild things are.” Annu. Rev. Neurosci. 34, 535-567 (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
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
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
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
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
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
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
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
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
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
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
State M.W. and P. Levitt The conundrums of understanding genetic risks for autism spectrum disorders. Nat. Neurosci. 14, 1499-1506 (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
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
Arguello P.A. and J.A. Gogos Cognition in mouse models of schizophrenia susceptibility genes. Schizophr. Bull. 36, 289-300 (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
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
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
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
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