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1	Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
	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
	In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2014)
	Abstract: AIM: Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia. METHOD: Genome-wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with SLI, from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years). RESULTS: In the clinical language-impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the SLI replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified. INTERPRETATION: The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non-verbal IQ. Early detection of these aneuploidies can provide information and direct the appropriate management for individuals.
	Keyword: Adolescent; Aneuploidy; Child; Cohort Studies; Dyslexia; Female; Genotype; Humans; Karyotyping; Language Development Disorders; Male; Paternal Age; Polymorphism; Preschool; Prevalence; Sex Chromosomes; Single Nucleotide; SLI Consortium; Young Adult
	URL: https://doi.org/10.1111/dmcn.12294
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2	Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia
	Simpson, NH; Addis, L; Brandler, WM...
	In: Symplectic Elements at Oxford ; Scopus (http://www.scopus.com/home.url) (2014)
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3	GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
	Lesca, G; Rudolf, G; Bruneau, N...
	In: Symplectic Elements at Oxford ; Scopus (http://www.scopus.com/home.url) (2013)
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4	Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.
	Newbury, DF; Paracchini, S; Scerri, TS...
	In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2011)
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5	A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3.
	Addis, L; Friederici, AD; Kotz, SA...
	In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2010)
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6	A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3
	Addis, L; Friederici, A D; Kotz, S A. - : Blackwell Publishing Ltd, 2010
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7	CMIP and ATP2C2 modulate phonological short-term memory in language impairment.
	Clark, A; Bishop, DV; Monaco, AP...
	In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2009)
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8	CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment
	Ragoussis, Jiannis; Everitt, Andrea; Addis, L.. - 2009
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9	Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment.
	Falcaro, M; Pickles, A; Newbury, DF...
	In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2008)
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10	Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment
	Falcaro, M.; Pickles, A.; Newbury, D. F.. - 2008
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