Nuala Simpson

Postdoctoral Researcher

I am a Postdoctoral Researcher in Professor Dorothy Bishop’s group and part of the OSCCI team. I am working on a European Research Council funded project entitled ‘Cerebral Asymmetry: New Directions in Correlates and Etiology’ (CANDICE), which will look at the nature of language lateralisation.

As a molecular geneticist I will be researching what the impact of having an extra sex chromosome would be on language and laterality in a cohort of individuals with the sex chromosome trisomies XXX, XXY and XYY. I will look across the X and Y chromosomes, as well as the autosomes, in these individuals to see what genes could be involved and what those genes could be interacting with. We are particularly interested in genes involved in the connections in the brain. It could be that the different language outcomes for the individuals with trisomies depend on the particular genetic variants a person has, in combination with having an extra X or Y chromosome.

Previous to this position I worked on the genetics of specific language impairment (SLI) in Dr Dianne Newbury’s group at the University of Oxford where I was particularly interested in the role of copy number variants in the aetiology of SLI.

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 regional association analysis and candidate gene screening.

Genome-wide analysis identifies a role for common copy number variants in specific language impairment.
Simpson NH. et al, (2015), Eur J Hum Genet, 23, 1370 - 1377
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'.
Ceroni F. et al, (2015), Eur J Hum Genet, 23, 1113 - 1115
Lack of replication for the myosin-18B association with mathematical ability in independent cohorts.
Pettigrew KA. et al, (2015), Genes Brain Behav, 14, 369 - 376
Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.
Villanueva P. et al, (2015), PLoS Genet, 11
Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment.
Pettigrew KA. et al, (2015), PLoS One, 10
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.
Ceroni F. et al, (2014), Eur J Hum Genet, 22, 1165 - 1171
Genome-wide screening for DNA variants associated with reading and language traits.
Gialluisi A. et al, (2014), Genes Brain Behav, 13, 686 - 701
Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
Simpson NH. et al, (2014), Dev Med Child Neurol, 56, 346 - 353
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.
Nudel R. et al, (2014), Genes Brain Behav, 13, 418 - 429
A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.
Ceroni F. et al, (2014), Autism Res, 7, 254 - 263
Associations of HLA alleles with specific language impairment.
Nudel R. et al, (2014), J Neurodev Disord, 6
Individual common variants exert weak effects on the risk for autism spectrum disorders.
Anney R. et al, (2012), Hum Mol Genet, 21, 4781 - 4792
CNVs leading to fusion transcripts in individuals with autism spectrum disorder
Holt R. et al, (2012), European Journal of Human Genetics, 20, 1141 - 1147
CNVs leading to fusion transcripts in individuals with autism spectrum disorder.
Holt R. et al, (2012), Eur J Hum Genet, 20, 1141 - 1147
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
Casey JP. et al, (2012), Hum Genet, 131, 565 - 579
A genome-wide scan for common alleles affecting risk for autism.
Anney R. et al, (2010), Hum Mol Genet, 19, 4072 - 4082
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. et al, (2010), Mol Psychiatry, 15, 954 - 968
Functional impact of global rare copy number variation in autism spectrum disorders.
Pinto D. et al, (2010), Nature, 466, 368 - 372
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
Sykes NH. et al, (2009), Eur J Hum Genet, 17, 1347 - 1353
MET and autism susceptibility: family and case-control studies.
Sousa I. et al, (2009), Eur J Hum Genet, 17, 749 - 758
Autism: the quest for the genes.
Sykes NH. and Lamb JA., (2007), Expert Rev Mol Med, 9, 1 - 15
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Autism Genome Project Consortium None. et al, (2007), Nat Genet, 39, 319 - 328
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.
MacDermot KD. et al, (2005), Am J Hum Genet, 76, 1074 - 1080
Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.
Barnby G. et al, (2005), Am J Hum Genet, 76, 950 - 966
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q.
Bonora E. et al, (2005), Eur J Hum Genet, 13, 198 - 207
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects.
Lamb JA. et al, (2005), J Med Genet, 42, 132 - 137

Key Publications

Genome-wide analysis identifies a role for common copy number variants in specific language impairment.
Simpson NH. et al, (2015), Eur J Hum Genet, 23, 1370 - 1377
Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
Simpson NH. et al, (2014), Dev Med Child Neurol, 56, 346 - 353
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.
Ceroni F. et al, (2014), Eur J Hum Genet, 22, 1165 - 1171
Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.
Villanueva P. et al, (2015), PLoS Genet, 11

Recent Publications

Genome-wide analysis identifies a role for common copy number variants in specific language impairment.
Simpson NH. et al, (2015), Eur J Hum Genet, 23, 1370 - 1377
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'.
Ceroni F. et al, (2015), Eur J Hum Genet, 23, 1113 - 1115
Lack of replication for the myosin-18B association with mathematical ability in independent cohorts.
Pettigrew KA. et al, (2015), Genes Brain Behav, 14, 369 - 376
Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.
Villanueva P. et al, (2015), PLoS Genet, 11
Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment.
Pettigrew KA. et al, (2015), PLoS One, 10

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