Nuala Simpson (née Sykes)

Postdoctoral Researcher

I joined Dr. Dianne Newbury's group in 2011 to study the genetics of specific language impairment (SLI). My project includes the analysis of the SLI candidate region on chromosome 16q and the candidate genes ATP2C2, CMIP and CNTNAP2.

My interest in neurogenetics developed whilst working on a project that examined the genetic aetiology of autism, during which time I completed a DPhil. My project focused on the autism linkage region on chromosome 7q and the candidate genes SHANK3 and SLC1A2.

E-mail: nuala.simpson@well.ox.ac.uk

Publications

Ceroni F, Simpson NH, Francks C, Baird G, Conti-Ramsden G, Clark A, Bolton PF, Hennessy ER, Donnelly P, Bentley DR, Martin H, Parr J, Pagnamenta AT, Maestrini E, Bacchelli E, Fisher SE, Newbury DF. Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. Eur J Hum Genet. 2014 Feb 12. http://www.ncbi.nlm.nih.gov/pubmed/24518835

Nudel R, Simpson NH, Baird G, O'Hare A, Conti-Ramsden G, Bolton PF, Hennessy ER; SLI Consortium, Monaco AP, Knight JC, Winney B, Fisher SE, Newbury DF. Associations of HLA alleles with specific language impairment. J Neurodev Disord. 2014 Jan 17;6(1):1. http://www.ncbi.nlm.nih.gov/pubmed/24433325

Simpson NH, Addis L, Brandler WM, Slonims V, Clark A, Watson J, Scerri TS, Hennessy ER, Bolton PF, Conti-Ramsden G, Fairfax BP, Knight JC, Stein J, Talcott JB, O'Hare A, Baird G, Paracchini S, Fisher SE, Newbury DF, Consortium S. Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. Dev Med Child Neurol. 2013 Oct 9. http://www.ncbi.nlm.nih.gov/pubmed/24117048

Holt R, Sykes NH, Conceição IC, Cazier JB, Anney RJ, Oliveira G, Gallagher L, Vicente A, Monaco AP, Pagnamenta AT. CNVs leading to fusion transcripts in individuals with autism spectrum disorder. Eur J Hum Genet. 2012 Nov;20(11):1141-7.                          http://www.ncbi.nlm.nih.gov/pubmed/22549408

Autism Genome Project Consortium. Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders. Eur J Hum Genet. 2011 Apr 27. [Epub ahead of print]
http://www.ncbi.nlm.nih.gov/pubmed/21522181

Autism Genome Project Consortium. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet. 2010 Oct 15;19(20):4072-82.
http://www.ncbi.nlm.nih.gov/pubmed/20663923

Autism Genome Project Consortium. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010 Jul 15;466(7304):368-72.
http://www.ncbi.nlm.nih.gov/pubmed/20531469

Sykes NH, Toma C, Wilson N, Volpi EV, Sousa I, Pagnamenta AT, Tancredi R, Battaglia A, Maestrini E, Bailey AJ, Monaco AP, International Molecular Genetic Study of Autism Consortium (IMGSAC). Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. Eur J Hum Genet. 2009 Oct;17(10):1347-53.
http://www.ncbi.nlm.nih.gov/pubmed/19384346

Sousa I, Clark TG, Toma C, Kobayashi K, Choma M, Holt R, Sykes NH, Lamb JA, Bailey AJ, Battaglia A, Maestrini E, Monaco AP; International Molecular Genetic Study of Autism Consortium (IMGSAC). MET and autism susceptibility: family and case-control studies. Eur J Hum Genet. 2009 Jun;17(6):749-58.
http://www.ncbi.nlm.nih.gov/pubmed/19002214

Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F, Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson G, Bildt AD, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ, Monaco AP. 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. Mol Psychiatry. 2010 Sep;15(9):954-68.
http://www.ncbi.nlm.nih.gov/pubmed/19401682

Sykes, N. H. and Lamb, J. A. (2007). Autism: the quest for the genes. Expert Rev Mol Med. 2007 Sep 3;9(24):1-15. Review.
http://www.ncbi.nlm.nih.gov/pubmed/17764594

Autism Genome Project Consortium. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007 Mar;39(3):319-28.
http://www.ncbi.nlm.nih.gov/pubmed/17322880

Barnby G, Abbott A, Sykes N, Morris A, Weeks DE, Mott R, Lamb J, Bailey AJ, Monaco AP; International Molecular Genetics Study of Autism Consortium. Candidate-Gene Screening and Association Analysis at the Autism-Susceptibility Locus on Chromosome 16p: Evidence of Association at GRIN2A and ABAT. Am J Hum Genet. 2005 Jun;76(6):950-66.
http://www.ncbi.nlm.nih.gov/pubmed/15830322

MacDermot KD, Bonora E, Sykes N, Coupe AM, Lai CS, Vernes SC, Vargha-Khadem F, McKenzie F, Smith RL, Monaco AP, Fisher SE. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am J Hum Genet. 2005 Jun;76(6):1074-80.
http://www.ncbi.nlm.nih.gov/pubmed/15877281

Bonora E, Lamb JA, Barnby G, Sykes N, Moberly T, Beyer KS, Klauck SM, Poustka F, Bacchelli E, Blasi F, Maestrini E, Battaglia A, Haracopos D, Pedersen L, Isager T, Eriksen G, Viskum B, Sorensen EU, Brondum-Nielsen K, Cotterill R, Engeland HV, Jonge MD, Kemner C, Steggehuis K, Scherpenisse M, Rutter M, Bolton PF, Parr JR, Poustka A, Bailey AJ, Monaco AP Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. Eur J Hum Genet. 2005 Feb;13(2):198-207.
http://www.ncbi.nlm.nih.gov/pubmed/15523497

Lamb JA, Barnby G, Bonora E, Sykes N, Bacchelli E, Blasi F, Maestrini E, Broxholme J, Tzenova J, Weeks D, Bailey AJ, Monaco AP; International Molecular Genetic Study of Autism Consortium (IMGSAC). Analysis of the IMGSAC autism susceptibility loci: evidence for sex-limited and parent-of-origin specific effects. J Med Genet. 2005 Feb;42(2):132-7.
http://www.ncbi.nlm.nih.gov/pubmed/15689451