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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.

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


2014

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

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

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


2013

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

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

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., 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

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

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

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

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


2012

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

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

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

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

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

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

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

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


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

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

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

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

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

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

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.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

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

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

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


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

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

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2009

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2008

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2007

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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

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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

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