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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.


publication authors year
Optical Electrophysiology Reveals the Role of Lateral Inhibition in Sensory Processing in Cortical Layer 1. Fan, L.Z., Kheifets, S., Böhm, U.L., Boyden, E.S., Takesian, A.E., Cohen, A.E. 2020
Agitation in Patients With Autism Spectrum Disorder Admitted to Inpatient Pediatric Medical Units Eric P. Hazen, Caitlin Ravichandran, Amrita Rao Hureau, Julia O'Rourke, Elizabeth Madva, Christopher J. McDougle 2020
Sleep and EEG biomarkers as avenues toward new treatment approaches in Angelman syndrome Christopher J. McDougle & Christopher J. Keary 2020
Social Behavior Is Modulated by Valence-Encoding mPFC-Amygdala Sub-circuitry Wen-Chin Huang, Aya Zucca, Jenna Levy, Damon T. Page 2020
A standardized social preference protocol for measuring social deficits in mouse models of autism Benjamin Rein, Kaijie Ma and Zhen Yan 2020
Inhibition of colony stimulating factor 1 receptor corrects maternal inflammation-induced microglial and synaptic dysfunction and behavioral abnormalities. Seiko Ikezu, Hana Yeh, Jean-Christophe Delpech, Maya E. Woodbury, Alicia A. Van Enoo, Zhi Ruan, Sudhir Sivakumaran, Yang You, Carl Holland, Teresa Guillamon-Vivancos, Asuka Yoshii-Kitahara, Mina B. Botros, Charlotte Madore, Pin-Hao Chao, Ankita Desani, Solaiappan Manimaran, Srinidhi Venkatesan Kalavai, W. Evan Johnson, Oleg Butovsky, Maria Medalla, Jennifer I. Luebke & Tsuneya Ikezu 2020
Dysfunction of cortical GABAergic neurons leads to sensory hyper-reactivity in a Shank3 mouse model of ASD. Chen, Q., Deister, C.A., Gao, X., Guo, B., Lynn-Jones, T., Chen, N., Wells, M.F., Liu, R., Goard , M.J., Dimidschstein, J.,Feng, S., Shi, Y., Liao, W., Lu, Z., Fishell, G., Moore, C.I., Feng, G.  2020
Challenges in the Medical Care of Patients With Autism Spectrum Disorder: The Role of the Consultation-Liaison Psychiatrist Robyn P. Thom, Christopher J.McDougle, Eric P. Hazen 2019
Fast animal pose estimation using deep neural networks. Pereira, T.D., Aldarondo, D.E., Willmore, L., Kislin, M., Wang, S. S.-H., Murthy, M., Shaevitz, J.W. 2019
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. Salussolia, C.L., Klonowska, K., Kwiatkowski, D.J. and Sahin, M. 2019
T lymphocytes and cytotoxic astrocyte blebs correlate across autism brains. DiStasio, MM, Nagakura, I, Nadler, MJ, Anderson, MP. 2019
Peripheral Network Connectivity Analyses for the Real-Time Tracking of Coupled Bodies in Motion Vilelmini Kalampratsidou and Elizabeth B. Torres 2018
Inhibitory circuit gating of auditory critical-period plasticity. Takesian, A.E., Bogard, L.J., Lichtman, J.W., Hensch, T.K. 2018
Biomarker Characterizing Neurodevelopment in applications in Autism. Wu, D., Jose, J.V., Nurnberger, J.I., Torres, E.B. 2018
Inversely active striatal projection neurons and interneurons selectively delimit useful behavioral sequences. Martiros, N., Burgess, A.A., and Graybiel, A.M. 2018
Radial glial lineage progression and differential intermediate progenitor amplification underlie striatal compartments and circuit organization. Kelly, S.M., Raudales, R., He, M., Lee, J.H., Kim, Y., Gibb, L.G., Wu, P., Matho, K., Osten, P., Graybiel, A.M., and Huang, Z.J. 2018
Cellular-scale probes enable stable chronic subsecond monitoring of dopamine neurochemicals in a rodent model. Schwerdt, H.N., Zhang, E., Kim, M.J., Yoshida, T., Stanwicks, L., Amemori, S., Dagdeviren, H. E., Langer, R., Cima, M.J., and Graybiel, A.M. 2018
mGluR5 modulation of behavioral and epileptic phenotypes in a mouse model of Tuberous Sclerosis Complex. Kelly, E, Schaeffer, S.M., Dhamne, S.C., Lipton, J.O., Lindemann, L., Honer, M., Jaeschke, G., Super, C.E., Lammers, S.H.T., Modi, M.E., Silverman, J.L., Dreier, J.R., Kwiatkowski, D.J., Rotenberg, A., Sahin, M. 2018
Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin. Sundberg, M., Tochitsky, I., Buchholz, D.E., Winden, K., Kujala, V., Kapur, K., Cataltepe, D., Turner, D., Han, M-J, Woolf, C.J., Hatten, M.E., and Sahin, M. 2018
Sensitive Periods for Cerebellar Mediated Autistic-like Behaviors. Tsai, P.T., Rudolph, S., Guo, C., Ellegood, J., Gibson, J.M., Schaeffer, S.M., Mogavero, J., Lerch, J.P., Regehr, W., Sahin, M. 2018
Abnormal mTOR Activation in Autism. Winden, K.D., Ebrahimi-Fakhari, D. and Sahin, M. 2018
The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders. Modi, E.M. and Sahin, M. 2018
A Unified Circuit for Social Behavior Modi, E.M. and Sahin, M. 2018
Cerebellar granule cells acquire a widespread predictive feedback signal during motor learning. 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
Parent-Reported Severity and Health/Educational Services Use Among US Children with Autism: Results from a National Survey Katharine E. Zuckerman,, Nora D.B. Friedman, Alison E. Chavez, Amy M. Shui,, Karen A. Kuhlthau 2017
Autism gene Ube3a and seizures impair sociability by repressing VTA Cbln1. 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
Bone Accrual in Males with Autism Spectrum Disorder Ann M. Neumeyer, Natalia Cano Sokoloff, Erin McDonnell, Eric A. Macklin, Christopher J. McDougle, Madhusmita Misra 2017
The role of brain-reactive autoantibodies in brain pathology and cognitive impairment. Mader, S.A., Brimberg, L., and Diamond, B. 2017
Hypersociability in the Angelman syndrome mouse model. Stoppel, D.C., Anderson, M.P. 2017
Two-photon imaging in mice shows striosomes and matrix have overlapping but differential reinforcement-related responses. Bloem, B., Huda, R., Sur, M., and Graybiel, A.M. 2017
Translational use of event-related potentials to assess circuit integrity in ASD. Modi, M. Sahin, M. 2017
Aberrant BMAL1 Proteostasis Underlies Circadian Rhythm Abnormalities in a Paradigmatic mTOR-opathy. Lipton, J.O., Boyle, L.M., Yuan, E.D., Hochstrasser, K.J., Chifamba, F., Nathan, A., Leech, J., Goldman, S., Tsai, P., Davis, F., Sahin, M. 2017
Autism spectrum disorder and epileptic encephalopathy: common causes, many questions. Srivastava, S. and Sahin, M. 2017
Neuronal CTGF/CCN2 Regulates Oligodendrocyte Maturation and Myelination in a Mouse Model of Tuberous Sclerosis Complex. Ercan, E., Han, J.M., Di Nardo, A., Winden, K., Han, M-J, Hoyo, L., Leask, A., Geschwind, D.H., Sahin, M. 2017
Altered onset response dynamics in somatosensory processing in autism spectrum disorder. 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
6.14 Correlates Of Behavioral Difficulties In Adolescents With Autism Spectrum Disorder Admitted To Inpatient Pediatric Units Eric Hazen, MD, Amrita Vavilikolanu, Julia O. O'Rourke, Caitlin Ravichandran, Elizabeth Madva, MD, Christopher J. McDougle, MD 2016
Development of the Emotion Dysregulation Inventory: A PROMIS®ing Method for Creating Sensitive and Unbiased Questionnaires for Autism Spectrum Disorder 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
Neurotensin stimulates sortilin and mTOR in human microglia inhibitable by methoxyluteolin, a potential therapeutic target for autism. Patel, AB, Tsilioni, I, Leeman, SE, Theoharides, TC. 2016
The ADHD-linked human dopamine D4 receptor variant D4.7 induces over-suppression of NMDA receptor function in prefrontal cortex. Qin, L. , Liu, W., Ma, K., Wei, J., Zhong, P., Cho, K., Yan, Z. 2016
Synaptic Actin Dysregulation, a Convergent Mechanism of Mental Disorders? Yan, Z., Kim, E., Datta, D., Lewis, D.A., Soderling, S.H. 2016
Habit formation coincides with shifts in reinforcement representations in the sensorimotor striatum. Smith, K.S. and Graybiel, A.M. 2016
Habit formation. Smith, K.S. and Graybiel, A.M. 2016
Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A. Alexander, M.S., Gasperini, M.J., Tsai, P.T., Gibbs, D.E., Spinazzola, J.M., Marshall, J.L., Feyder, M.J., Pletcher, M.T., Chekler, E.L., Morris, C.A., Sahin, M., Harms, J.F., Schmidt, C.J., Kleiman, R.J. and Kunkel, L.M. 2016
Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. Ebrahimi-Fakhari, D., Saffari, A., Wahlster, L., Di Nardo, A., Turner, D., Lewis, T.L., Conrad, C., Rothberg, J.M., Lipton, J.O., Kolker, S., Hoffmann, G.F., Han, M.J., Polleux, F. and Sahin, M. 2016
Congenital disorders of autophagy: an emerging novel class of inborn errors of neurometabolism. Ebrahimi-Fakhari, D., Saffari, A., Wahlster, L., Lu, J., Byrne, S., Hoffmann, G.F., Jungbluth, H., Sahin, M. 2016
Direct current stimulation induces mGluR5-dependent neocortical plasticity. Sun, Y., Lipton, J.O., Boyle, L.M., Madsen, J.R., Goldenberg, M.C., Pascual-Leone, A., Sahin, M., Rotenberg, A. 2016
Caspr2-reactive antibody cloned from a mother of an ASD child mediates an ASD-like phenotype in mice. Brimberg, L. Mader, S., Jeganathan, V., Berlin, R., Coleman, T.R., Gregersen, P.K., Huerta, P.T., Volpe, B.T., Diamond, B. 2016
Foxp2 controls synaptic wiring of corticostriatal circuits and vocal communication by opposing Mef2c. 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
Auditory-Motor Mapping Training: Comparing the Effects of a Novel Speech Treatment to a Control Treatment for Minimally Verbal Children with Autism. Chenausky, K., Norton, A., Tager-Flusberg, H., Schlaug, G. 2016
Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. 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
Somatosensory cortex functional connectivity abnormalities in autism show opposite trends, depending on direction and spatial scale. Khan, S., Michmizos, K., Tommerdahl, M., Ganesan, S., Kitzbichler, M.G., Zetino, Garel, K.L., Herbert, M.R., Hämäläinen, M.D., Kenet, T. 2015
Altered development and multifaceted band-specific abnormalities of resting state networks in autism. Kitzbichler, M.G., Khan, S., Ganesan, S., Vangel, M.G., Herbert, M.R., Hämäläinen, M.S., Kenet, T. 2015
The safety and efficacy of noninvasive brain stimulation in development and neurodevelopmental disorders Lindsay M. Oberman & Peter G. Enticott 2015
Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism. Davis, P.E., Peters, J.M., Krueger, D.A., and Sahin, M. 2015
Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders. Sahin, M., Sur, M. 2015
Toward an immune-mediated subtype of autism spectrum disorder. 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
Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology. 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
Sulforaphane treatment of autism spectrum disorder (ASD). Singh, K., Connors, S.L., Macklin, E.A., Smith, K.D., Fahey, J.W., Talalay, P., Zimmerman, A.W. 2014
Neurons in the ventral striatum exhibit cell-type specific representations of outcome during learning. Atallah, H.E., Howe, M.W., McCool, A., and Graybiel, A.M. 2014
Humanized Foxp2 accelerates making transitions from declarative to procedural learning. Schreiweis, C., Bornschein, U., Burguiere, E., Kerimoglu, C., Schreiter, S., Dannemann, M., Goyal, S., Hevers, W., Rea, E., French, C.A., Puliyadi, R., Groszer, M., Fisher, S.E., Mundry, R., Winter, C., Pääbo, S., Enard, W., and Graybiel, A.M. 2014
An evo-devo approach to thyroid hormones in cerebral and cerebellar cortical development: etiological implications for autism. Berbel, P., Navarro, D., Roman, G.C. 2014
Local and long-range functional connectivity is reduced in concert with autism spectrum disorders. 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
Can we measure autism? Kohane, I.S., Eran, A. 2013
Neuroinflammation and autism: toward mechanisms and treatments. McDougle, C.J., Carlezon, W.A. 2013
Association of Gestational Maternal Hypothyroxinemia and Increased Autism Risk. 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
Resting and Task-Modulated High-Frequency Brain Rhythms Measured by Scalp Encephalography in Infants with Tuberous Sclerosis Complex. Stamoulis, C., Vogel-Farley, V. Degregorio, G., Jeste, S.S., Nelson, C.A. 2013
Environmental Enrichment as an Effective Treatment for Autism: A Randomized Controlled Trial. Woo, C.C., Leon, M. 2013
Activity-dependent phosphorylation of MECP2 threonine 308 regulates interaction with NcoR 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
Hidden communicative competence: Case study evidence using eye-tracking and video analysis. Grayson, A., Emerson, A., Howard-Jones, P., & O'Neill, L. 2012
Autonomic changes with seizures correlate with postictal EEG suppression. Poh, M-Z., Loddenkemper, T., Reinsberger, C., Swenson, N.C., Goyal, S., Madsen, J.R., Picard, R.W. 2012
Convulsive seizure detection using a wrist-worn electrodermal activity and accelerometry biosensor Poh, M-Z., Loddenkemper, T., Reinsberger, C., Swenson, N.C., Goyal, S., Sabtala, M.C., Madsen, J.R., Picard, R.W. 2012
Maternal Immune Activation Increases Neonatal Mouse Cortex Thickness and Cell Density. Smith, S.E.P., Elliott, R.M., Anderson, M.P. 2012
Mutant LGI1 inhibits seizure-induced trafficking of Kv4.2 potassium channels. Smith, S.E.P., Xu, L., Kasten, M.R., Anderson, M.P. 2012
Dopaminergic neurons inhibit striatal output through non-canonical release of GABA. Tritsch, N.X., Ding, J.B., Sabatini, B.L. 2012
Autistic-like behavior and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. 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
A Portable Audio/Video Recorder for Longitudinal Study of Child Development. Vosoughi, S., Goodwin, M.S., Washabaugh, B., Roy, D. 2012
Epilepsy Gene LGI1 Regulates Postnatal Development Remodeling of Retinogeniculate Synapses. Zhou, Y-D., Zhang, D., Ozkaynak, E., Wang, X., Kasper, E.M., Leguern, E., Baulac, S., Anderson, M.P. 2012
Detecting stereotypical motor movements in the classroom using accelerometry and pattern recognition algorithms. Albinali, F., Goodwin, M.S., Intille, S. 2012
Relating MEG measured motor cortical oscillations to resting γ-aminobutyric acid (GABA) concentration. Gaetz, W., Edgar, J.C., Wang, D.J., Roberts, T.P.L. 2011
Self-renewal induced efficiently, safely, and effective therapeutically with one regulatable gene in a human somatic progenitor cell. Kim, K.S., Lee, H.J., Jeong, H.S., Li, J., Teng, Y.D., Sidman, R.L., Snyder, E.Y.,Kim, S.U. 2011
Transcranial Magnetic Stimulation: A Neuroscientific Probe of Cortical Function in Schizophrenia. McClintock, S.M., Freitas, C., Oberman, L., Lisanby, S.H., Pascual-Leone, A. 2011
Increased Gene Dosage of Ube3a Results in Autism Traits and Decreased Glutamate Synaptic Transmission in Mice. Smith, S.E.P., Zhou, Y.D., Zhang, G., Jin, Z., Stoppel, D.C., Anderson, M.P. 2011
Auditory-Motor Mapping Training as an Intervention to Facilitate Speech Output in Non-Verbal Children with Autism: A Proof of Concept Study. Wan, C.Y., Bazen, L., Baars, R., Libenson, A., Zipse, L., Zuk, J., Norton, A., Schlaug, G. 2011
Transplanted Hypothalamic Neurons Restore Leptin Signaling and Ameliorate Obesity in db/db Mice. Czupryn, A., Zhou, Y., Chen, X., McNay, D., Anderson, M.P., Flier, J.S., Macklis, J.D. 2011
Brain stimulation over Broca’s area differentially modulates naming skills in neurotypical adults and individuals with Asperger’s syndrome. Fecteau, S., Agosta, S., Oberman, L., Pascual-Leone, A. 2011
Changes in cortical plasticity across the lifespan. Freitas, C., Perez, J., Knobel, M., Tormos, J.M., Oberman, L., Eldaief, M., Bashir, S., Vernet, M., Pena-Gomez, C., Pascual-Leone, A. 2011
Validating γ oscillations and delayed auditory responses as translational biomarkers of autism. Gandal, M.J., Edgar, J.C., Ehrlichman, R.S., Mehta, M., Roberts, T.P.L., Siegel, S.J. 2010
Communication via gap junctions underlies early functional and beneficial interactions between grafted neural stem cells and the host. 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
Widespread transcription at neuronal activity-related enhancers. 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
Tropomyosin is a Tetramer Under Physiological Salt Conditions. Lassing, I., Hillberg, L., Hoglund, A., Karlsson, R., Schutt, C., Lindberg, U. 2010
Nna1 mediates Purkinje cell dendritic development via lysyl oxidase propeptide and NF-kB signaling. 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
Transcranial magnetic stimulation provides means to assess cortical plasticity and excitability in humans with fragile X syndrome and autism spectrum disorder. Oberman, L., Ifert-Miller, F., Najib, U., Bashir, S., Woollacott, I., Gonzalez-Heydrich, J., Picker, J., Rotenberg, A., Pascual-Leone, A. 2010
Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk for Autism and Dyslexia. 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
Non-contact, automated cardiac pulse measurements using video imaging and blind source separation Poh, M., McDuff, D.J., Picard, R.W. 2010
MEG Detection of Delayed Auditory Evoked Responses in Autism Spectrum Disorders: Towards an Imaging Biomarker for Autism. 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
Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. 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
The Therapeutic Effects of Singing in Neurological Disorders. Wan, C.Y., Ruber, T., Hohmann, A., Schlaug, G. 2010
Allelic diversity in human developmental neurogenetics: insights into biology and disease. Walsh, C.A., Engle, E.C. 2010
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. 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
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system. 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
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. 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
Use of engineered Escherichia coli cells to detect estrogenicity in everyday consumer products. Gawrys, M. D., Hartman, I., Landweber, L. F., Wood, D. W. 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. 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
Reduced conditioned fear response in mice that lack D1x1 and show subtype-specific loss of interneurons. Mao, R., Page, D.T., Merzlyak, I., Kim, C., Tecott, L.H., Janak, P.H., Rubenstein, J.L.R., Sur, M. 2009
A truncating mutation of TRAPPC9 is associated with autosomal recessive intellectual disability and postnatal microcephaly. 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
Haploinsufficiency for Pten and Serotonin transporter cooperatively influences brain size and social behavior. Page, D.T., Kuti, O.J., Prestia, C., Sur, M. 2009
A 15q13.3 microdeletion segregating with autism. 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
Future affective technology for autism and emotion communication Picard, R.W. 2009
Developmental correlation of diffusion anisotropy with auditory-evoked response. Roberts, T.P.L., Khan, S.Y., Blaskey, L., Dell, J., Levy, S.E., Zarnow, D.M., Edgar, J.C. 2009
Dopaminergic-neuropeptide interactions in the social brain. Skuse, D.H., Gallagher, L. 2009
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. 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
A genome-wide linkage and association scan reveals novel loci for autism. Weiss, L.A., Arking, D.E., & The Gene Discovery Project of Johns Hopkins & the Autism Consortium. 2009
Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy. Zhou, Y., Lee, S., Jin, Z., Wright, M., Smith, S.E.P., Anderson, M.P. 2009
Recognizing stereotypical motor movements in the laboratory and classroom: A case study with children on the autism spectrum Albinali, F., Goodwin, M.S., Intille, S.S. 2009
Distinct Genetic Risk Based on Association of MET in Families With Co-occurring Autism and Gastrointestinal Conditions. Campbell, D.B., Buie, T.M., Winter, H., Bauman, M., Sutcliffe, J.S., Perrin, J.M., Levitt, P. 2009
Genes Related to Sex Steroids, Neural Growth, and Social-Emotional Behavior are Associated with Autistic Traits, Empathy, and Asperger Syndrome. Chakrabarti, B., Dudbridge, F., Kent, L., Wheelwright, S., Hill-Cawthorne, G., Allison, C., Banerjee-Basu, S., Baron-Cohen, S. 2009
Tropomyosin assembly intermediates in the control of microfilament system turnover. Grenklo, S., Hillberg, L., Rathje, L.Z., Pinaev, G., Schutt, C.E., Lindberg, U. 2008
An Expanding Spectrum of Autism Models: From Fixed Developmental Defects to Reversible Functional Impairments. Herbert, M.R., Anderson, M.P. 2008
Autism and serotonin transporter gene polymorphisms: a systematic review and meta-analysis. Huang, C.H., Santangelo, S.L. 2008
Beckwith Weidemann Syndrome: A Behavioral Phenotype – Genotype Study. Kent, L., Bowdin, S., Kirby, G.A., Cooper, W.N., Maher, E.R. 2008
An Investigation of Mitochondrial Haplogroups in Autism. Kent, L., Gallagher, L., Elliott, H.R., Mowbray, C., Chinnery, P.F. 2008
Sex-typical Play: Masculinization/Defeminization in Girls with an Autism Spectrum Condition. Knickmeyer, R.C. & Wheelwright, S. 2008
Activity-dependent regulation of inhibitory synapse development by Npas4. 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
Tropomyosins Regulate the Impact of Actin Binding Proteins on Actin Filaments. Lindberg, U., Schutt, C.E., Goldman, R.D., Nyakern-Meazza, M., Hillberg, L., Rathje, L.Z., Grenklo, S. 2008
Genome-wide linkage analyses of quantitative and categorical autism subphenotypes. Liu, X., Paterson, A.D., Szatmari, P., and The Autism Genome Project Consortium. 2008
Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment. Morrow, E.M., Kane, A., Goff, D.C., Walsh, C.A. 2008
Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry. 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
Electrophysiological signatures: Magnetoencephalographic studies of the neural correlates of language impairment in autism spectrum disorders. Roberts, T.P.L., Schmidt, G.L., Egeth, M., Blaskey, L., Rey, M.M., Edgar, J.C., Levy, S.E. 2008
Can autistic children read the mind of an animated triangle? Salter, G., Seigal, A., Claxton, M., Lawrence, K., Skuse, D. 2008
MET and autism susceptibility: family and case-control studies. 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
Effective and Structural Connectivity in the Human Auditory Cortex. Upadhyay, J., Silver, A., Knaus, T.A., Lindgren, K.A., Ducros, M., Kim, D., Tager-Flusberg, H. 2008
Autism and Brain Development. Walsh, C.A., Morrow, E.M., Rubenstein, J.L.R. 2008
Association between microdeletion and microduplication at 16p11.2 and autism. 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
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Alazami AM1, 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 KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS. 2008
Fetal testosterone and autistic traits. Auyeung, B., Baron-Cohen, S., Ashwin, E., Knickmeyer, R., Taylor, K., Hackett, G. 2008
The Autism Spectrum Quotient: Children’s Version (AQ-Child). Auyeung, B., Baron-Cohen, S., Wheelwright, S., Allison, C. 2008
Autism, hypersystemizing, and truth. Baron-Cohen, S. 2008
Neuronal fiber pathway abnormalities in autism: an initial MRI diffusion tensor tracking study of hippocampo-fusiform and amygdalo-fusiform pathways. Conturo, T.E., Williams, D.L., Smith, C.D., Gultepe, E., Akbudak, E., Minshew , N.J. 2008
Genome-Wide Analysis of MEF2 Transcriptional Program Reveals Synaptic Target Genes and Neuronal Activity-Dependent Polyadenylation Site Selection. 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
Elevated rates of testosterone-related disorders in women with autism spectrum disorders. Ingudomnukul, E., Baron-Cohen, S., Wheelwright, S., Knickmeyer, R. 2007
Molecular and structural basis for redox regulation of beta-actin. Lassing, I., Schmitzberger, F., Bjornstedt, M., Holmgren, A., Nordlund, P., Schutt, C.E., Lindberg, U. 2007
Unique Glycerophospholipid Signature in Retinal Stem Cells Correlates with Enzymatic Functions of Diverse Long-Chain Acyl-CoA Synthetases. Li, J., Cui, Z., Zhao, S., Sidman, R.L. 2007
Strong Association of de novo copy number mutations with autism. 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. 2007
Injection of mouse and human neural stem cells into neonatal Niemann-Pick A model mice. Sidman, R.L. 2007
Rethinking the nature of genetic vulnerability to autistic spectrum disorders. Skuse, D.H. 2007
Empathizing and Systemizing in Adults with and without Autism Spectrum Conditions: Cross-Cultural Stability. Wakabayashi, W., Baron-Cohen, S., Uchiyama, T., Yoshida, Y., Kuroda, M., Wheelwright, S. 2007
Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome. Weiss, L.A., Purcell, S., Waggoner, S., Lawrence, K., Spektor, D., Daly, M.J., Sklar, P., Skuse, D. 2007
Mathematical Talent is Linked to Autism. Baron-Cohen, S., Wheelwright, S., Burtenshaw, A., Hobson, E. 2007
The mitochondrial DNA A3243A>G mutation must be an infrequent cause of Asperger syndrome. Kent, L., Wheelwright, S., Baron-Cohen, S., Lambert, C., Pyle, A., Elliott, H., Chinnery, P.F. 2006
Fetal Testosterone and Sex Differences in Typical Social Development and in Autism. Knickmeyer, R.C. & Baron-Cohen, S. 2006
Androgens and autistic traits: A study of individuals with congenital adrenal hyperplasia. Knickmeyer, R.C., Baron-Cohen, S., Fane, B.A., Wheelwright, S., Mathews, G.A., Conway, G.S., Brook, C.G.D., Hines, M. 2006
Fetal testosterone and empathy. Knickmeyer, R.C., Baron-Cohen, S., Raggatt, P., Taylor, K., Hackett, G. 2006
Fetal testosterone and sex differences. Knickmeyer, R.C. & Baron-Cohen, S. 2006
Neural Stem Cells Rescue nervous Purkinje Neurons by Restoring Molecular Homeostasis of Tissue Plasminogen Activator and Downstream Targets. Li, J., Imitola, J., 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. Li, J., Ma, Y., Teng, Y.D., Zheng, K., Vartanian, T.K., Snyder, E.Y., Sidman, R.L. 2006
Eye Tracking and Fear Recognition Deficits in Turner syndrome. Mazzola, F., Seigal, A., MacAskill, A., Corden, B., Lawrence, K., Skuse, D.H. 2006
Sexual dimorphism in cognition and behaviour: the role of x-linked genes. Skuse, D.H. 2006
Function and Connectivity in Human Primary Auditory Cortex: A Combined fMRI and DTI Study at 3 Tesla. Upadhyay, J., Ducros, M., Knaus, T.A., Lindgren, K.A., Silver, A., Tager-Flusberg, H., Kim, D. 2006
Foetal testosterone and the child systemizing quotient Auyeung, B., Baron-Cohen, S., Chapman, E., Knickmeyer, R., Taylor, K., Hackett, G. 2006
Two new theories of autism: hyper-systemising and assortative mating. Baron-Cohen, S. 2006
Empathizing: Neurocognitive developmental mechanisms and individual differences. Chakrabarti, B., Baron-Cohen, S. 2006
Fetal Testosterone and Empathy: Evidence from the Empathy Quotient (EQ) and the ‘Reading the Mind in the Eyes’ Test. Chapman, E., Baron-Cohen, S., Auyeung, B., Knickmeyer, R., Taylor, K., Hackett, G. 2006
Empathizing and Systemizing in Males, Females, and Autism. Goldenfeld, N., Baron-Cohen, S., Wheelwright, S. 2005
Foetal testosterone, social relationships, and restricted interests in children. Knickmeyer, R.C., Baron-Cohen, S., Raggatt, P., Taylor, K. 2005
Effects of electroencephalogram biofeedback with Asperger’s syndrome. Scolnick, B. 2005
X-linked genes and mental functioning. Skuse, D.H. 2005
Is autism due to brain desynchronization? Welsh, J.P., Ahn, E.S., Placantonakis, D.G. 2005
Sex differences in the brain: implications for explaining autism. Baron-Cohen, S., Knickmeyer, R.C., Belmonte, M.K. 2005
3.24 Repetitive Thoughts And Behavior In Williams Syndrome John C. Huston, Jennifer E. Mullett, Julia O. O'Rourke, Lauren McGrath, Jessica Waxler, Barbara Pober, Christopher J. McDougle