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.
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.
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Baron-Cohen, S. (2006).
Two new theories of autism: hyper-systemising and assortative
mating. Archives of Disease in Childhood, 91
(1), 2-5.
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| 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.
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.
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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.
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.
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.
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Goldenfeld, N., Baron-Cohen,
S., Wheelwright, S. (2005). Empathizing and Systemizing
in Males, Females, and Autism. Clinical Neuropsychiatry,
2 (6), 338-345.
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.
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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.
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.
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.
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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.
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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.
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Knickmeyer, R.C., Baron-Cohen, S., Raggatt, P., Taylor,
K., Hackett, G. (2006). Fetal testosterone and empathy.
Hormones and Behavior, 49 (3), 282-292.
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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.
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.
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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.
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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.
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.
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. |
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.
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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.
Picard, R.W. (2009). Future affective technology for autism and emotion communication. Phil. Trans. R. Soc. B., 364, 3575-3584.
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.
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.
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.
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Skuse, D.H. (2005).
X-linked genes and mental functioning. Human Molecular
Genetics, 14(1), R27-R32.
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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.
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.
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.
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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.
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., Ruber, T., Hohmann, A., Schlaug, G. (2010). The Therapeutic Effects of Singing in Neurological Disorders. Music Perception, 27 (4), 287-295.
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.
Welsh,
J.P., Ahn, E.S., Placantonakis, D.G. (2005). Is autism
due to brain desynchronization?
Int. J. Devl. Neuroscience, 23, 253-263.
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.
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