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Pagnamenta A.T., Khan H., Walker S., et al. Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. Journal of Medical Genetics, Advanced Online (2010) PMID: 20972252

Noor A., Whibley A., Marshall C.R., et al. Disruption at the PTCHD1 locus on Xp22.11 in autism spectrum disorder and intellectual disability. Science Translational Medicine. Vol. 2, Issue 49, (2010). PMID: 20844286

Anney R., Klei L., Pinto D., Regan R., Conroy J., Magalhaes T.R., Correia C., Abrahams B.S., Sykes N., Pagnamenta A.T. et al.  A genomewide scan for common alleles affecting risk for autism. Hum Mol Genet, Advance Access 27 July (2010).  PMID: 20663923.

Pinto D., Pagnamenta A.T., Klei L., Anney R. et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature, 466, 368-372 (2010). PMID: 20531469.

Holt R., Barnby G., Maestrini E., Bacchelli E. et al. Linkage and candidate gene studies of autism spectrum disorders in European populations. Eur J Hum Genet, 18, 1013-1019 (2010). PMID: 20442744.

Pagnamenta A.T., Bacchelli E., de Jonge M.V., Mirza G. et al. Characterisation of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biological Psychiatry, 68, 320-328 (2010). PMID: 20346443.

Sousa I., Clark T.G., Holt R., Pagnamenta A.T. et al. Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.  Molecular Autism 1(7), (2010). PMID: 20678249.

Pagnamenta A.T. and Monaco A.P. Chromosomal Copy Number Variation in Psychiatric Disorders. European Psychiatric Review 1(2), 8-12 (2009).

Weiss L.A., Arking D.E.; Gene Discovery Project of Johns Hopkins & the Autism Consortium, Daly M.J., Chakravarti A*. A genome-wide linkage and association scan reveals novel loci for autism. Nature 461(7265), 802-808 (2009). *Included amongst 195 collaborators involved with replication. PMID: 19812673.

Maestrini E., Pagnamenta A.T., Lamb J.A., Bacchelli E. et al. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicates the IMMP2L-DOCK4 gene region in autism susceptibility. Mol Psych. 15, 954-968 (2009). PMID: 19401682.

Sykes N.H., Toma C., Wilson N., Volpi E.V. et al. Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. Eur J Hum Genet 17(10), 1347-1353 (2009). PMID: 19384346.

Sousa I., Clark T.G., Toma C., Kobayashi K. et al. MET and autism susceptibility: family and case-control studies. Eur J Hum Genet 17(6), 749-58 (2009). PMID: 19002214.

Pagnamenta A.T., Wing K., Akha E.S., Knight S.J. et al. A 15q13.3 microdeletion segregating with autism. Eur J Hum Genet 17(5), 687-692 (2009). PMID: 19050728.

The Autism Genome Project consortium. Mapping autism risk loci using genetic linkage and chromosomal rearrangements.  Nat Genet 39, 319-28 (2007).
Toma C. et al. Is ASMT a susceptibility gene for Autism Spectrum Disorders? A replication study in European populations Mol Psych 12, 977–79 (2007).
Sykes N.H. and Lamb J.A. Autism: the quest for the genes. Expert Reviews in Molecular Medicine 9, 1-15 (2007).