Contact information
Research groups
Collaborators
Nuala Simpson
Postdoctoral Research Associate
I am a Postdoctoral Research Associate 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.
Key publications
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Genome-wide analysis identifies a role for common copy number variants in specific language impairment.
Journal article
Simpson NH. et al, (2015), Eur J Hum Genet, 23, 1370 - 1377
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Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
Journal article
Simpson NH. et al, (2014), Dev Med Child Neurol, 56, 346 - 353
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Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.
Journal article
Ceroni F. et al, (2014), Eur J Hum Genet, 22, 1165 - 1171
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Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.
Journal article
Villanueva P. et al, (2015), PLoS Genet, 11
Recent publications
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Stage 2 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis
Journal article
Newbury D. et al, (2020), Wellcome Open Research, 3, 85 - 85
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Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy.
Journal article
Mountford HS. et al, (2020), Am J Med Genet C Semin Med Genet, 184, 256 - 266
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Stage 2 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis
Journal article
Newbury D. et al, (2018), Wellcome Open Research
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Stage 1 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: protocol for a test of the double hit hypothesis
Journal article
Newbury D. et al, (2018), Wellcome Open Research
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Stage 1 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: protocol for a test of the double hit hypothesis.
Journal article
Newbury DF. et al, (2018), Wellcome Open Res, 3