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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 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

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

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

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

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

 

2009       

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

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

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

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

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

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

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

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

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

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

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

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

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

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

 

2008      

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

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

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

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

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

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

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

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

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      

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

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

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

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

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

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