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Research projects supported by the NLM Family Foundation are often published in peer-reviewed scholarly journals. Some of the more recent research articles resulting from NLM Family Foundation grants are listed below, and may provide you with a more detailed look at the type of research that the Foundation supports.

Alazami, A.M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K.P., Schneider, S.A., Sakati, N., Walsh, C.A., Al-Mohanna, F., Meyer, B., Alkuraya, F.S. (2008). Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet., 83(6), 684-91.
Albinali, F., Goodwin, M.S., Intille, S. (in press). Detecting stereotypical motor movements in the classroom using accelerometry and pattern recognition algorithms. Pervasive and Mobile Computing.
Albinali, F., Goodwin, M.S., Intille, S.S. (2009, September). Recognizing Stereotypical Motor Movements in the Laboratory and Classroom: A Case Study with Children on the Autism Spectrum. Paper presented at the 11th International Conference on Ubiquitous Computing, Orlando, FL.

Auyeung, B., Baron-Cohen, S., Ashwin, E., Knickmeyer, R., Taylor, K., Hackett, G. (2008). Fetal testosterone and autistic traits. The British Journal of Psychology, 00,1-22.

Auyeung, B., Baron-Cohen, S., Chapman, E., Knickmeyer, R., Taylor, K., Hackett, G. (2006). Foetal testosterone and the child systemizing quotient. European Journal of Endocrinology, 155, S123-S130.
Auyeung, B., Baron-Cohen, S., Wheelwright, S., Allison, C. (2008). The Autism Spectrum Quotient: Children's Version (AQ-Child). Journal of Autism and Developmental Disorders, 38(7), 1230-40.

Baron-Cohen, S. (2008). Autism, hypersystemizing, and truth. The Quarterly Journal of Experimental Psychology, 61 (1), 64-75.

Baron-Cohen, S. (2006). Two new theories of autism: hyper-systemising and assortative mating. Archives of Disease in Childhood, 91 (1), 2-5.

Baron-Cohen, S., Knickmeyer, R.C., Belmonte, M.K. (2005). Sex Differences in the Brain: Implications for Explaining Autism. Science, 310, 819-823.

Baron-Cohen, S., Wheelwright, S., Burtenshaw, A., Hobson, E. (2007). Mathematical Talent is Linked to Autism. Human Nature, 18 (2), 125-131.

Berbel, P., Navarro, D., Roman, G.C. (2014). An evo-devo approach to thyroid hormones in cerebral and cerebellar cortical development: etiological implications for autism. Frontiers in Endocrinology, 5: 146.
Birk, E., Har-Zahav, A., Manzini, C.M., Pasmanik-Chor, M., Kornreich, L., Walsh, C.A., Noben-Trauth, K., Albin, A., Simon, A.J., Colleaux, L., Morad, Y., Rainshtein, L., Tischfield, D.J., Wang, P.L. (2010). SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system. Am J Hum Genet., 87(5), 694-700.
Brimberg, L. Mader, S., Jeganathan, V., Berlin, R., Coleman, T.R., Gregersen, P.K., Huerta, P.T., Volpe, B.T., Diamond, B. (2016). Caspr2-reactive antibody cloned from a mother of an ASD child mediates an ASD-like phenotype in mice. Molecular Psychiatry, xx, 1-9.
Campbell, D.B., Buie, T.M., Winter, H., Bauman, M., Sutcliffe, J.S., Perrin, J.M., Levitt, P. (2009). Distinct Genetic Risk Based on Association of MET in Families With Co-occurring Autism and Gastrointestinal Conditions. Pediatrics, 123, 1018-1024.

Chakrabarti, B., Baron-Cohen, S. (2006). Empathizing: Neurocognitive developmental mechanisms and individual differences. Progress in Brain Research, 156, 403-417.

Chakrabarti, B., Dudbridge, F., Kent, L., Wheelwright, S., Hill-Cawthorne, G., Allison, C., Banerjee-Basu, S., Baron-Cohen, S. (2009). Genes Related to Sex Steroids, Neural Growth, and Social-Emotional Behavior are Associated with Autistic Traits, Empathy, and Asperger Syndrome. Autism Research, 1-21.

Chapman, E., Baron-Cohen, S., Auyeung, B., Knickmeyer, R., Taylor, K., Hackett, G. (2006). Fetal Testosterone and Empathy: Evidence from the Empathy Quotient (EQ) and the 'Reading the Mind in the Eyes' Test. Social Neuroscience, 1(2), 135-148.

Chen, Y., Kuo, H., Bornschein, U., Takahashi, H., Chen, S., Lu, K., Yang, H., Chen, G., Lin, J., Lee, Y., Chou, Y., Cheng, S., Chien, C., Enard, W., Hevers, W., Pääbo, S., Graybiel, AM, and Liu, F. (2016). Foxp2 controls synaptic wiring of corticostriatal circuits and vocal communication by opposing Mef2c. Nature Neuroscience, 19 (11), 1513-1522..

Chenausky, K., Norton, A., Tager-Flusberg, H., Schlaug, G. (2016). Auditory-Motor Mapping Training: Comparing the Effects of a Novel Speech Treatment to a Control Treatment for Minimally Verbal Children with Autism. PLOS ONE, 1-22.

Ching, M.S., 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., Hisam, 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., Children’s Hospital Boston Genotype Phenotype Study Group. (2010). Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet., 153B(4), 937-47.

Conturo, T.E., Williams, D.L., Smith, C.D., Gultepe, E., Akbudak, E., Minshew , N.J. (2008). Neuronal fiber pathway abnormalities in autism: an initial MRI diffusion tensor tracking study of hippocampo-fusiform and amygdalo-fusiform pathways. Journal of the International Neuropsychological Society , 14 (6): 933-46.
Czupryn, A., Zhou, Y., Chen, X., McNay, D., Anderson, M.P., Flier, J.S., Macklis, J.D. (2011). Transplanted Hypothalamic Neurons Restore Leptin Signaling and Ameliorate Obesity in db/db Mice. Science, 334, 1133-1137.
Ebert, D., Gabel, H.W., Robinson, N.D., Kastan, N.R., Hu, L.S., Cohen, S., Navarro, A.J., Lyst, M.J., Ekiert, R., Bird, A.P., Greenberg, M.E. (2013). Activity-dependent phosphorylation of MECP2 threonine 308 regulates interaction with NcoR. Nature, 499(7458), 341-5.

Ebrahimi-Fakhari, D., Saffair, A., Wahlster, L., Di Nardo, A., Turner, D., Lewis, TL, Conrad, C., Rothberg, JM, Lipton, JO, Kolker, S., Hoffmann, GF, Han, M., Polleux, F., Sahin, M. (2016). Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. Cell Reports, 17, 1053-1070.

Fecteau, S., Agosta, S., Oberman, L., Pascual-Leone, A. (2011). Brain stimulation over Broca's area differentially modulates naming skills in neurotypical adults and individuals with Asperger's syndrome. European Journal of Neuroscience, 34, 158-164.

Flavell, S.W., Kim, T., Gray, J.M., Harmin, D.A., Hemberg, M., Hong, E.J., Markenscoff-Papadimitriou, E., Bear, D.M., Greenberg, M.E. (2008). Genome-Wide Analysis of MEF2 Transcriptional Program Reveals Synaptic Target Genes and Neuronal Activity-Dependent Polyadenylation Site Selection. Neuron, 60, 1022-1038.

Freitas, C., Perez, J., Knobel, M., Tormos, J.M., Oberman, L., Eldaief, M., Bashir, S., Vernet, M., Pena-Gomez, C., Pascual-Leone, A. (2011). Changes in cortical plasticity across the lifespan. Frontiers in Aging Neuroscience, 3 (5), 1-8.
Gaetz, W., Edgar, J.C., Wang, D.J., Roberts, T.P.L. (2011). Relating MEG measured motor cortical oscillations to resting gamma-Aminobutyric acid (GABA) concentration. NeuroImage.
Gandal, M.J., Edgar, J.C., Ehrlichman, R.S., Mehta, M., Roberts, T.P.L., Siegel, S.J.. (2010). Validating Gamma Oscillations and Delayed Auditory Responses as Translational Biomarkers of Autism. Biol Psychiatry, 68, 1100-1106.

Gawrys, M. D., Hartman, I., Landweber, L. F., Wood, D. W. (2009). Use of engineered Escherichia coli Cells to Detect Estrogenicity in Everyday Consumer Products. Journal of Chemical Technology and Biotechnology, 84 (12), 1834-1840.

Giovannucci, A., Badura, A., Deverett, B., Najafi, F., Pereira, T.D., Gao, Z., Ozden, I., Kloth, A.D., Pnevmatikakis, E., Paninski, L., De Zeeuw, C.I., Medina, J.F., Wang, S.S-H. (2017). Cerebellar granule cells acquire a widespread predictive feedback signal during motor learning. Nature Neuroscience.

Goldenfeld, N., Baron-Cohen, S., Wheelwright, S. (2005). Empathizing and Systemizing in Males, Females, and Autism. Clinical Neuropsychiatry, 2 (6), 338-345.
Grayson, A., Emerson, A., Howard-Jones, P., & O'Neill, L. (2012). Hidden communicative competence: Case study evidence using eye-tracking and video analysis. Autism, 16 (1), 80-95.
Grenklo, S., Hillberg, L., Rathje, L.Z., Pinaev, G., Schutt, C.E., Lindberg, U. (2008). Tropomyosin assembly intermediates in the control of microfilament system turnover. European Journal of Cell Biology, 87(11), 905-920.
Herbert, M.R., Anderson, M.P. (2008). An Expanding Spectrum of Autism Models: From Fixed Developmental Defects to Reversible Functional Impairments. In A.W. Zimmerman (Ed.), Autism: Current Theories and Evidence (Chapter 20). Totowa, NJ: Humana Press.
Huang, C.H., Santangelo, S.L. (2008). Autism and Serotonin Transporter Gene Polymorphisms: A Systematic Review and Meta-Analysis. Am J Med Genet Park B, 147B, 903-913.
Ingudomnukul, E., Baron-Cohen, S., Wheelwright, S., Knickmeyer, R. (2007). Elevated rates of testosterone-related disorders in women with autism spectrum disorders. Hormones and Behavior , 51 (5), 597-604.
Jäderstad, J., Jäderstad, L.M., Li, J., Chintawar, S., Salto, C., Pandolfo, M., Ourednik, V., Teng, Y.D., Sidman, R.L., Arenas, E., Snyder, E. and Herlenius, E. (2010). Communication via gap junctions underlies early functional and beneficial interactions between grafted neural stem cells and the host. Proc. Natl. Acad. Sci., 107, 5184-5189.

Kent, L., Bowdin, S., Kirby, G.A., Cooper, W.N., Maher, E.R. (2008). Beckwith Weidemann Syndrome: A Behavioral Phenotype - Genotype Study. American Journal of Medical Genetics Part B (Neuropsychiatric Genetics), 147B, 1295-1297.
Kent, L., Gallagher, L., Elliott, H.R., Mowbray, C., Chinnery, P.F. (2008). An Investigation of Mitochondrial Haplogroups in Autism. American Journal of Medical Genetics Part B (Neuropsychiatric Genetics), 147B, 987-989.
Kent, L., Wheelwright, S., Baron-Cohen, S., Lambert, C., Pyle, A., Elliott, H., Chinnery, P.F. (2006). The Mitochondrial DNA A3243A>G Mutation Must Be An Infrequent Cause of Asperger Syndrome. Journal of Pediatrics, 149 (2), 280-281.

Khan, S., Gramfort, A., Shetty, N.R., Kitzbichler, M.G., Ganesan, S., Moran, J.M., Lee, S.M., Gabrieli, J.D.E., Tager-Flusberg, H.B., Joseph, R.M., Herbert, M.R., Hamalainen, M.S., Kenet, T. (2013). Local and long-range functional connectivity is reduced in concert with autism spectrum disorders. PNAS, 110(8), 3107-12.

Khan, S., Hashmi, J.A., Mamashli, F., Bharadwaj, H.M., Ganesan, S., Michmizos, K.P., Kitzbichler, M.G., Zetino, M., Garel, K.L., Hämäläinen, M.S., Kenet, T. (2016). Altered onset response dynamics in somatosensory processing in autism spectrum disorder. Frontiers in Neuroscience, 10, 255.

Khan, S., Michmizos, K., Tommerdahl, M., Ganesan, S., Kitzbichler, M.G., Zetino, Garel, K.L., Herbert, M.R., Hämäläinen, M.D., Kenet, T. (2015). Somatosensory cortex functional connectivity abnormalities in autism show opposite trends, depending on direction and spatial scale. Brain, 138, 1394-1409.

Kim, K.S., Lee, H.J., Jeong, H.S., Li, J., Teng, Y.D., Sidman, R.L., Snyder, E.Y.,Kim, S.U. (2011). Self-renewal induced efficiently, safely, and effective therapeutically with one regulatable gene in a human somatic progenitor cell. PNAS, 108 (12), 4876–4881.
Kim, T., Hemberg, M., Gray, J.M., Costa, A.M., Bear, D.M., Wu, J., Harmin, D.A., Laptewicz, M., Barbara-Haley, K., Kuersten, S., Markenscoff-Papadimitriou, E., Kuhl, D., Bito, H., Worley, P.F., Kreiman, G., & Greenberg, M.E. (2010). Widespread transcription at neuronal activity-related enhancers. Nature, 465, 182-187.
Kitzbichler, M.G., Khan, S., Ganesan, S., Vangel, M.G., Herbert, M.R., Hämäläinen, M.S., Kenet, T. (2015). Altered development and multifaceted band-specific abnormalities of resting state networks in autism. Biological Psychiatry, 77 (9), 772-774.
Knickmeyer, R.C. & Baron-Cohen, S. (2006). Fetal Testosterone and Sex Differences in Typical Social Development and in Autism. Journal of Child Neurology, 21(10): 825-845.
Knickmeyer, R.C., Baron-Cohen, S., Fane, B.A., Wheelwright, S., Mathews, G.A., Conway, G.S., Brook, C.G.D., Hines, M. (2006). Androgens and autistic traits: A study of individuals with congenital adrenal hyperplasia. Hormones and Behavior, 50 (1), 148-153.
Knickmeyer, R.C., Baron-Cohen, S., Raggatt, P., Taylor, K. (2005). Foetal testosterone, social relationships, and restricted interests in children. Journal of Child Psychology and Psychiatry, 46 (2), 198-210.
Knickmeyer, R.C., Baron-Cohen, S., Raggatt, P., Taylor, K., Hackett, G. (2006). Fetal testosterone and empathy. Hormones and Behavior, 49 (3), 282-292.
Knickmeyer, R.C. & Baron-Cohen, S. (2006). Fetal testosterone and sex differences. Early Human Development, 82(12), 755-760.

Knickmeyer, R.C. & Wheelwright, S. (2008). Sex-typical Play: Masculinization/Defeminization in Girls with an Autism Spectrum Condition. Journal of Autism and Developmental Disorders, 38 (6), 1028-35.

Kohane, I.S., Eran, A. (2013). Can we measure autism? Sci. Transl. Med., 15 (209), 209ed18.

Krishnan, V., Stoppel, D.C., Nong, Y., Johnson, M.A., Nadler, M.J.S., Ozkaynak, E., Teng, B.L., Nagakura, I., Mohammad, F., Silva, M.A., Peterson, S., Cruz, T.J., Kasper, E.M., Arnaout, R., Anderson, M.P. (2017). Autism gene Ube3a and seizures impair sociability by repressing VTA Cbln1. Nature.

Lassing, I., Hillberg, L., Hoglund, A., Karlsson, R., Schutt, C., Lindberg, U. (2010). Tropomyosin is a Tetramer Under Physiological Salt Conditions. Cytoskeleton, 67, 599-607.

Lassing, I., Schmitzberger, F., Bjornstedt, M., Holmgren, A., Nordlund, P., Schutt, C.E., Lindberg, U. (2007). Molecular and Structural Basis for Redox Regulation of B-Actin. Journal of Molecular Biology, 370, 331-348.
Li, J., Cui, Z., Zhao, S., Sidman, R.L. (2007). Unique Glycerophospholipid Signature in Retinal Stem Cells Correlates with Enzymatic Functions of Diverse Long-Chain Acyl-CoA Synthetases. Stem Cells, 25, 2864-2873.

Li, J., Gu, X., Ma, Y., Calicchio, M.L., Kong, D., Teng, Y.D., Yu, L., Crain, A.M., Vartanian, T.K., Pasqualini, R., Arap, W., Libermann, T.A., Snyder, E.Y. and Sidman, R.L. (2010). Nna1 mediates Purkinje cell dendritic development via lysyl oxidase propeptide and NF-kB signaling. Neuron, 68, 45-60.
Li, J., Imitola, J., Snyder, E.Y., Sidman, R.L. (2006). Neural Stem Cells Rescue nervous Purkinje Neurons by Restoring Molecular Homeostasis of Tissue Plasminogen Activator and Downstream Targets. The Journal of Neuroscience, 26 (30), 7839-7848.
Li, J., Ma, Y., Teng, Y.D., Zheng, K., Vartanian, T.K., Snyder, E.Y., Sidman, R.L. (2006). Purkinje neuron degeneration in nervous (nr) mutant mice is mediated by a metabolic pathway involving excess tissue plasminogen activator. Proceedings of the National Academy of Sciences, 103 (20), 7847-7852.
Lin, Y., Bloodgood, B.L., Hauser, J.L., Lapan, A.D., Koon, A.C., Kim, T., Hu, L.S., Malik, A.N., Greenberg, M.E. (2008). Activity-dependent regulation of inhibitory synapse development by Npas4. Nature, 455, 1198-1205.
Lindberg, U., Schutt, C.E., Goldman, R.D., Nyakern-Meazza, M., Hillberg, L., Rathje, L.Z., Grenklo, S. (2008). Tropomyosins Regulate the Impact of Actin Binding Proteins on Actin Filaments. In Peter Gunning (Ed.), Tropomyosin- Advances in Experimental Medicine and Biology, Volume 644, Section VI (pp.223-231). Austin: Landes Bioscience and Springer Science & Business Media.
Liu, X., Paterson, A.D., Szatmari, P., and The Autism Genome Project Consortium. (2008). Genome-wide Linkage Analyses of Quantitative and Categorical Autism Subphenotypes. Biological Psychiatry, 64, 561-570.
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., de Bildt, A., Minderaa, R.B., Mulder, E.J., Morris, A.P., Bailey, A.J., Monaco, A.P., and IMGSAC. (2009). 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. Molecular Psychiatry, 1–15.
Mao, R., Page, D.T., Merzlyak, I., Kim, C., Tecott, L.H., Janak, P.H., Rubenstein, J.L.R., Sur, M. (2009). Reduced conditioned fear response in mice that lack D1x1 and show subtype-specific loss of interneurons. Journal of Neurodevelopmental Disorders.
Mazefsky, C.A., Day, T.N., Siegel, M., White, S.W., Yu, L., Pilkonis, P.A., The Autism and Developmental Disabilities Inpatient Research Collaborative (ADDIRC). (2016). Development of the Emotion Dysregulation Inventory: A PROMIS®ing Method for Creating Sensitive and Unbiased Questionnaires for Autism Spectrum Disorder. Journal of Autism and Developmental Disorders.

Mazzola, F., Seigal, A., MacAskill, A., Corden, B., Lawrence, K., Skuse, D.H. (2006). Eye Tracking and Fear Recognition Deficits in Turner syndrome. Social Neuroscience, 1(3-4) 259-269.
McClintock, S.M., Freitas, C., Oberman, L., Lisanby, S.H., Pascual-Leone, A. (2011). Transcranial Magnetic Stimulation: A Neuroscientific Probe of Cortical Function in Schizophrenia. Biol Psychiatry, 70, 19-27.
McDougle, C.J., Carlezon, W.A. (2013). Neuroinflammation and autism: toward mechanisms and treatments. Neuropsychopharmacology, 38(1), 241-2.
McDougle, C.J., Landino, S.M., Vahabzadeh, A., O’Rourke, J., Zurcher, N.R., Finger, B.C., Palumbo, M.L., Helt, J., Mullett, J.E., Hooker, J.M., Carlezon, W.A. (2014). Toward an immune-mediated subtype of autism spectrum disorder. Brain Research, S0006-8993(14) 01297-9.

Morrow, E.M., Kane, A., Goff, D.C., Walsh, C.A. (2008). Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment. Schizophr Res., 106 (2-3), 265-7.
Morrow, E.M., Yoo, S. Flavell, S.W., Kim, T., 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. (2008). Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry. Science, 321 , 218-223.
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. (2009). A truncating mutation of TRAPPC9 is associated with autosomal recessive intellectual disability and postnatal microcephaly. Am J Hum Genet., 85 (6), 897-902.
Oberman, L., Ifert-Miller, F., Najib, U., Bashir, S., Woollacott, I., Gonzalez-Heydrich, J., Picker, J., Rotenberg, A., Pascual-Leone, A. (2010). Transcranial magnetic stimulation provides means to assess cortical plasticity and excitability in humans with fragile X syndrome and autism spectrum disorder. Frontiers in Synaptic Neuroscience, 2 (26), 1-8.
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. (2014). Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology. Nature Communications.
Page, D.T., Kuti, O.J., Prestia, C., Sur, M. (in press). Haploinsufficiency for Pten and Serotonin transporter cooperatively influences brain size and social behavior. PNAS.

Pagnamenta, A.T., Bachelli, E., de Jonge, M.V., Mirza, G., Scerri, T.S., Minopoli, F., Chiocchetti, A., Ludwig, K.U., Hoffman, 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., Nothen, M.M., Schulte-Korne, G., Deloukas, P., Ragoussis, J., Bailey, A.J., Maestrini, E., Monaco, A.P., and IMGSAC. (2010). Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk for Autism and Dyslexia. Biol Psychiatry, xx:xxx.

Pagnamenta, A.T., Monaco, A.P. (2009). Chromosomal Copy Number Variation in Psychiatric Disorders. European Psychiatry Review 2, 8-12.

Pagnamenta, A.T., Wing, K., Akha, E.S., Knight, S.J., Bolte, S., Schmotzer, G., Duketis, E., Poustka, F., Klauck, S.M., Poustka, A., Ragoussis, J., Bailey, A.J., Monaco, A.P., and International Molecular Genetic Study of Autism Consortium. (2009). A 15q13.3 microdeletion segregating with autism. Eur J Hum Genet 17, 687-692.

Patel, AB, Tsilioni, I, Leeman, SE, Theoharides, TC. (2016, In press). Neurotensin stimulates sortilin and mTOR in human microglia inhibitable by methoxyluteolin, a potential therapeutic target for autism. PNAS.
Picard, R.W. (2009). Future affective technology for autism and emotion communication. Phil. Trans. R. Soc. B., 364, 3575-3584.
Poh, M-Z., Loddenkemper, T., Reinsberger, C., Swenson, N.C., Goyal, S., Madsen, J.R., Picard, R.W. (2012). Autonomic changes with seizures correlate with postictal EEG suppression. Neurology, ** (*), 1-9.
Poh, M-Z., Loddenkemper, T., Reinsberger, C., Swenson, N.C., Goyal, S., Sabtala, M.C., Madsen, J.R., Picard, R.W. (2012). Convulsive seizure detection using a wrist-worn electrodermal activity and accelerometry biosensor. Epilepsia, ** (*), 1-5.
Poh, M., McDuff, D.J., Picard, R.W. (2010). Non-contact, automated cardiac pulse measurements using video imaging and blind source separation. Optics Express, 18 (10), 10762-10774.
Qin, L. , Liu, W., Ma, K., Wei, J., Zhong, P., Cho, K., Yan, Z. (2016). The ADHD-linked human dopamine D4 receptor variant D4.7 induces over-suppression of NMDA receptor function in prefrontal cortex. Neurobiology of Disease, 95, 194–203.
Roberts, T.P.L., Edgar, J.C. (2009). Electrophysiological endophenotypes in autism spectrum disorders. Mensa Research Journal, 40(3), 19-27.
Roberts, T.P.L., Khan, S.Y., Blaskey, L., Dell, J., Levy, S.E., Zarnow, D.M., Edgar, J.C. (2009). Developmental correlation of diffusion anisotropy with auditory-evoked response. NeuroReport, 20, 1586-1591.
Roberts, T.P.L., Khan, S.Y., Rey, M., Monroe, J.F., Cannon, K., Blaskey, L., Woldoff, S., Qasmieh, S., Gandal, M., Schmidt, G.L., Zarnow, D.M., Levy, S.E., Edgar, J.C. (2010). MEG Detection of Delayed Auditory Evoked Responses in Autism Spectrum Disorders: Towards an Imaging Biomarker for Autism. Autism Research, 3, 1-11.
Roberts, T.P.L., Schmidt, G.L., Egeth, M., Blaskey, L., Rey, M.M., Edgar, J.C., Levy, S.E. (2008). Electrophysiological signatures: Magnetoencephalographic studies of the neural correlates of language impairment in autism spectrum disorders. International Journal of Psychophysiology, 68, 149-160.
Roman, G. C., Ghassabian, A., Bongers-Schokking, J.J., Jaddoe, V.W.V., Hofman, A., de Rijke, Y.B., Verhulst, F.C., Tiemeier, H. (2013). Association of Gestational Maternal Hypothyroxinemia and Increased Autism Risk. Annals of Neurology, 74, 733-742.
Salter, G., Seigal, A., Claxton, M., Lawrence, K., Skuse, D. (2008). Can autistic children read the mind of an animated triangle? Autism, 12 (4), 349-71.
Scolnick, B. (2005). Effects of electroencephalogram biofeedback with Asperger's syndrome. International Journal of Rehabilitation Research, 28 (2), 159-163.
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., Lehtimaki, T., Ledbetter, D., Gregersen, P.K., Bregman, J., Sutcliffe, J.S., Jobanputra, V., Chung, W., Warburton, D., King, M.C., Skuse, D., Geschwing, D.H., Gilliam, T.C., Ye, K., Wigler, M. Strong Association of de novo copy number mutations with autism. Science. 2007 Apr 20; 316(5823): 445-9.
Sidman, R.L. (2007). Injection of mouse and human neural stem cells into neonatal Niemann-Pick A model mice. Brain Research, 1140, 195-204.
Singh, K., Connors, S.L., Macklin, E.A., Smith, K.D., Fahey, J.W., Talalay, P., Zimmerman, A.W. (2014). Sulforaphane treatment of autism spectrum disorder (ASD).  Proc Natl Acad Sci U S A Early Edition.
Skuse, D.H. (2005). X-linked genes and mental functioning. Human Molecular Genetics, 14(1), R27-R32.
Skuse, D.H. (2006). Sexual dimorphism in cognition and behaviour: the role of x-linked genes. European Journal of Endocrinology, 155 (suppl_1), S99-S106.
Skuse, D.H. (2007). Rethinking the nature of genetic vulnerability to autistic spectrum disorders. TRENDS in Genetics, 23 (8), 387-95.
Skuse, D.H., Gallagher, L. (2009). Dopaminergic-neuropeptide interactions in the social brain. Trends in Cognitive Sciences, 13 (1), 27-35.
Smith, S.E.P., Elliott, R.M., Anderson, M.P. (2012). Maternal Immune Activation Increases Neonatal Mouse Cortex Thickness and Cell Density. Journal of Neuroimmune Pharmacology, Epub ahead of print.
Smith, S.E.P., Xu, L., Kasten, M.R., Anderson, M.P. (2012). Mutant LGI1 inhibits seizure-induced trafficking of Kv4.2 potassium channels. Journal of Neurochemistry, 120, 611-621.
Smith, S.E.P., Zhou, Y.D., Zhang, G., Jin, Z., Stoppel, D.C., Anderson, M.P. (2011). Increased Gene Dosage of Ube3a Results in Autism Traits and Decreased Glutamate Synaptic Transmission in Mice. Science Translational Medicine, 3 (103), 103ra97.
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., and IMGSAC. (2010). Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. Molecular Autism, 1 (7).
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., & International Molecular Genetic Study of Autism Consortium (IMGSAC). (2008). MET and autism susceptibility: family and case-control studies. European Journal of Human Genetics, 17, 749-758.
Stamoulis, C., Vogel-Farley, V. Degregorio, G., Jeste, S.S., Nelson, C.A. (2013). Resting and Task-Modulated High-Frequency Brain Rhythms Measured by Scalp Encephalography in Infants with Tuberous Sclerosis Complex. Journal of Autism and Developmental Disabilities, Epub ahead of print, Published online July 10, 2013.
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., and International Molecular Genetic Study of Autism Consortium (IMGSAC). (2009). Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. European Journal of Human Genetics, 17, 1347-1353.
Tritsch, N.X., Ding, J.B., Sabatini, B.L. (2012). Dopaminergic neurons inhibit striatal output through non-canonical release of GABA. Nature, 490, 262-266.
Tsai, P.T., Hull, C., Chu, Y., Greene-Colozzi, E., Sadowski, A.R., Leech, J.M., Steinberg, J., Crawley, J.N., Regehr, W.G., Sahin, M. (2012). Autistic-like behavior and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature, 488, 647-651.
Upadhyay, J., Ducros, M., Knaus, T.A., Lindgren, K.A., Silver, A., Tager-Flusberg, H., Kim, D. (2006). Function and Connectivity in Human Primary Auditory Cortex: A Combined fMRI and DTI Study at 3 Tesla. Cerebral Cortex, 17(10), 2420-32.
Upadhyay, J., Silver, A., Knaus, T.A., Lindgren, K.A., Ducros, M., Kim, D., Tager-Flusberg, H. (2008). Effective and Structural Connectivity in the Human Auditory Cortex. The Journal of Neuroscience, 28 (13), 3341-3349.

Vosoughi, S., Goodwin, M.S., Washabaugh, B., Roy, D. (2012, October). A Portable Audio/Video Recorder for Longitudinal Study of Child Development. Paper accepted at the International Conference on Multimodal Interaction 2012, Santa Monica, CA.
Wakabayashi, W., Baron-Cohen, S., Uchiyama, T., Yoshida, Y., Kuroda, M., Wheelwright, S. (2007). Empathizing and Systemizing in Adults with and without Autism Spectrum Conditions: Cross-Cultural Stability. Journal of Autism and Developmental Disorders, 37 (10), 1823-1832.
Wan, C.Y., Bazen, L., Baars, R., Libenson, A., Zipse, L., Zuk, J., Norton, A., Schlaug, G. (2011). Auditory-Motor Mapping Training as an Intervention to Facilitate Speech Output in Non-Verbal Children with Autism: A Proof of Concept Study. PLos ONE, 6(9), e25505.
Wan, C.Y., Ruber, T., Hohmann, A., Schlaug, G. (2010). The Therapeutic Effects of Singing in Neurological Disorders. Music Perception, 27 (4), 287-295.
Walsh, C.A., Engle, E.C. (2010). Allelic diversity in human developmental neurogenetics: insights intobiology and disease. Neuron, 68(2), 245-53.
Walsh, C.A., Morrow, E.M., Rubenstein, J.L.R. (2008). Autism and Brain Development. Cell, 135, 396-400.
Weiss, L.A., Arking, D.E., & The Gene Discovery Project of Johns Hopkins & the Autism Consortium. (2009). A genome-wide linkage and association scan reveals novel loci for autism. Nature, 461, 802-808.
Weiss, L.A., Purcell, S., Waggoner, S., Lawrence, K., Spektor, D., Daly, M.J., Sklar, P., Skuse, D. Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome. Human Molecular Genetics. 2007 Jan ; 16 (1): 107-113.
Weiss, L.A., Shen, Y., Korn, J.M., Arking, D.E., Miller, D.T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M.A., 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., the Autism Consortium. (2008). Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med., 358, 667-75.
Welsh, J.P., Ahn, E.S., Placantonakis, D.G. (2005). Is autism due to brain desynchronization? Int. J. Devl. Neuroscience, 23, 253-263.

Woo, C.C., Leon, M. (2013). Environmental Enrichment as an Effective Treatment for Autism: A Randomized Controlled Trial. Behavioral Neuroscience, 127 (4), 487-97.

Woodbury, M.E., Van Enoo, A., Holland, C., Medalla, M., Guillamon-Vivancos, T., Chao, P.H., Bostros, M., Desani, A., Manimaran, S., Butovsky, O., Johnson, W.E., Ikezu, S., Luebke, J.I., Ikezu, T. (2017). Inhibition of csf1r rejuvenates microglia and corrects autism spectrum phenotypes. Nature.

Yan, Z., Kim, E., Datta, D., Lewis, D.A., Soderling, S.H. (2016). Synaptic Actin Dysregulation, a Convergent Mechanism of Mental Disorders? The Journal of Neuroscience, 36(45), 11411–11417.
Yu, T.W., Mochida, G.H., Tischfield, D.J., Sgaier, S.K., Flores-Sarnat, L., Sergi, C.M., Topcu, M., McDonald, M.T., Barry, B.J., Felie, J.M., Sunu, C., Dobyns, W.B., Folkerth, R.D., Barkovich, A.J., Walsh, C.A. (2010). Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet., 42 (11), 1015-20.
Zhou, Y., Lee, S., Jin, Z., Wright, M., Smith, S.E.P., Anderson, M.P. (2009). Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy. Nature Medicine, 15(10), 1126-7.

Zhou, Y-D., Zhang, D., Ozkaynak, E., Wang, X., Kasper, E.M., Leguern, E., Baulac, S., Anderson, M.P. (2012). Epilepsy Gene LGI1 Regulates Postnatal Development Remodeling of Retinogeniculate Synapses. The Journal of Neuroscience, 32(3), 903-910.
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