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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Hits 1 – 13 of 13 1 Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment Chen, Xiaowei Sylvia; Reader, Rose H.; Hoischen, Alexander. - : Nature Publishing Group, 2017 BASE Show details 2 <The>> genetics of specific language impairment Nudel, Ron; Ceroni, Fabiola; Simpson, Nuala H.... In: Specific language impairment (Amsterdam, 2015), p. 7-34 MPI für Psycholinguistik Show details 3 Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment Pettigrew, Kerry A.; Reeves, Emily; Leavett, Ruth. - : Public Library of Science, 2015 BASE Show details 4 Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment Pettigrew, Kerry A.; Reeves, Emily; Leavett, Ruth. - 2015 BASE Show details 5 Genome-wide screening for DNA variants associated with reading and language traits Gialluisi, Alessandro; Newbury, Dianne F; Wilcutt, Erik G; Olson, Richard K; DeFries, John C; Brandler, William M; Pennington, Bruce F; Smith, Shelley D; Scerri, Thomas S; Simpson, Nuala H; The SLI Consortium; Luciano, Michelle; Evans, David M; Bates, Timothy C; Stein, John F; Talcott, Joel B; Monaco, Anthony P; Paracchini, Silvia; Francks, Clyde; Fisher, Simon E. - 2015 Abstract: This research was funded by: Max Planck Society, the University of St Andrews - Grant Number: 018696, US National Institutes of Health - Grant Number: P50 HD027802, Wellcome Trust - Grant Number: 090532/Z/09/Z, and Medical Research Council Hub Grant Grant Number: G0900747 91070 ; Reading and language abilities are heritable traits that are likely to share some genetic influences with each other. To identify pleiotropic genetic variants affecting these traits, we first performed a genome‐wide association scan (GWAS) meta‐analysis using three richly characterized datasets comprising individuals with histories of reading or language problems, and their siblings. GWAS was performed in a total of 1862 participants using the first principal component computed from several quantitative measures of reading‐ and language‐related abilities, both before and after adjustment for performance IQ. We identified novel suggestive associations at the SNPs rs59197085 and rs5995177 (uncorrected P ≈ 10–7 for each SNP), located respectively at the CCDC136/FLNC and RBFOX2 genes. Each of these SNPs then showed evidence for effects across multiple reading and language traits in univariate association testing against the individual traits. FLNC encodes a structural protein involved in cytoskeleton remodelling, while RBFOX2 is an important regulator of alternative splicing in neurons. The CCDC136/FLNC locus showed association with a comparable reading/language measure in an independent sample of 6434 participants from the general population, although involving distinct alleles of the associated SNP. Our datasets will form an important part of on‐going international efforts to identify genes contributing to reading and language skills. ; Publisher PDF ; Peer reviewed Keyword: BDC; BF; BF Psychology; CLDRC; Developmental dyslexia; GWAS; Language; Meta-analysis; Pleiotropic variants; QH426; QH426 Genetics; Reading; Reading disability; SLIC; Specific language impairment URL: http://hdl.handle.net/10023/6497 https://onlinelibrary.wiley.com/doi/full/10.1111/gbb.12158#support-information-section https://doi.org/10.1111/gbb.12158 BASE Hide details 6 Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment Nudel, Ron; Simpson, Nuala H; Baird, Gillian. - 2015 BASE Show details 7 Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment Pettigrew, Kerry A.; Reeves, Emily; Leavett, Ruth. - : Public Library of Science, 2015 BASE Show details 8 Associations of HLA alleles with specific language impairment Nudel, Ron; Simpson, Nuala H; Baird, Gillian. - : BioMed Central, 2014 BASE Show details 9 Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. Fisher, Simon E.; Newbury, Dianne F.; Simpson, Nuala H.. - : Nature Publishing Group, 2014 BASE Show details 10 Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. Simpson, Nuala H.; Addis, Laura; Brandler, William M.. - : Wiley, 2014 BASE Show details 11 Associations of HLA alleles with specific language impairment Nudel, Ron; Simpson, Nuala H; Baird, Gillian. - 2014 BASE Show details 12 Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia Simpson, Nuala H.; Addis, Laura; Brandler, William M.. - 2014 BASE Show details 13 Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia Simpson, Nuala H.; Addis, Laura; Brandler, William M.. - 2013 BASE Show details

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