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2. Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

Author

Pinto, Dalila, Delaby, Elsa, Merico, Daniele, Barbosa, Mafalda, Merikangas, Alison, Klei, Lambertus, Thiruvahindrapuram, Bhooma, Xu, Xiao, Ziman, Robert, Wang, Zhuozhi, Vorstman, Jacob AS, Thompson, Ann, Regan, Regina, Pilorge, Marion, Pellecchia, Giovanna, Pagnamenta, Alistair T, Oliveira, Bárbara, Marshall, Christian R, Magalhaes, Tiago R, Lowe, Jennifer K, Howe, Jennifer L, Griswold, Anthony J, Gilbert, John, Duketis, Eftichia, Dombroski, Beth A, De Jonge, Maretha V, Cuccaro, Michael, Crawford, Emily L, Correia, Catarina T, Conroy, Judith, Conceição, Inês C, Chiocchetti, Andreas G, Casey, Jillian P, Cai, Guiqing, Cabrol, Christelle, Bolshakova, Nadia, Bacchelli, Elena, Anney, Richard, Gallinger, Steven, Cotterchio, Michelle, Casey, Graham, Zwaigenbaum, Lonnie, Wittemeyer, Kerstin, Wing, Kirsty, Wallace, Simon, van Engeland, Herman, Tryfon, Ana, Thomson, Susanne, Soorya, Latha, Rogé, Bernadette, Roberts, Wendy, Poustka, Fritz, Mouga, Susana, Minshew, Nancy, McInnes, L Alison, McGrew, Susan G, Lord, Catherine, Leboyer, Marion, Le Couteur, Ann S, Kolevzon, Alexander, González, Patricia Jiménez, Jacob, Suma, Holt, Richard, Guter, Stephen, Green, Jonathan, Green, Andrew, Gillberg, Christopher, Fernandez, Bridget A, Duque, Frederico, Delorme, Richard, Dawson, Geraldine, Chaste, Pauline, Café, Cátia, Brennan, Sean, Bourgeron, Thomas, Bolton, Patrick F, Bölte, Sven, Bernier, Raphael, Baird, Gillian, Bailey, Anthony J, Anagnostou, Evdokia, Almeida, Joana, Wijsman, Ellen M, Vieland, Veronica J, Vicente, Astrid M, Schellenberg, Gerard D, Pericak-Vance, Margaret, Paterson, Andrew D, Parr, Jeremy R, Oliveira, Guiomar, Nurnberger, John I, Monaco, Anthony P, Maestrini, Elena, Klauck, Sabine M, Hakonarson, Hakon, Haines, Jonathan L, Geschwind, Daniel H, Freitag, Christine M, Folstein, Susan E, and Ennis, Sean

Subjects
Genetics, Brain Disorders, Pediatric, Mental Health, Intellectual and Developmental Disabilities (IDD), Neurosciences, Autism, 2.1 Biological and endogenous factors, Aetiology, Child, Child Development Disorders, Pervasive, DNA Copy Number Variations, Female, Gene Regulatory Networks, Humans, Male, Metabolic Networks and Pathways, Multigene Family, Pedigree, Sequence Deletion, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.

Published
2014

3. Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

Author

Gialluisi, Alessandro, Andlauer, Till F. M., Mirza-Schreiber, Nazanin, Moll, Kristina, Becker, Jessica, Hoffmann, Per, Ludwig, Kerstin U., Czamara, Darina, St Pourcain, Beate, Brandler, William, Honbolygó, Ferenc, Tóth, Dénes, Csépe, Valéria, Huguet, Guillaume, Morris, Andrew P., Hulslander, Jacqueline, Willcutt, Erik G., DeFries, John C., Olson, Richard K., Smith, Shelley D., Pennington, Bruce F., Vaessen, Anniek, Maurer, Urs, Lyytinen, Heikki, Peyrard-Janvid, Myriam, Leppänen, Paavo H. T., Brandeis, Daniel, Bonte, Milene, Stein, John F., Talcott, Joel B., Fauchereau, Fabien, Wilcke, Arndt, Francks, Clyde, Bourgeron, Thomas, Monaco, Anthony P., Ramus, Franck, Landerl, Karin, Kere, Juha, Scerri, Thomas S., Paracchini, Silvia, Fisher, Simon E., Schumacher, Johannes, Nöthen, Markus M., Müller-Myhsok, Bertram, and Schulte-Körne, Gerd

Published
2019
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4. Discovery of 42 genome-wide significant loci associated with dyslexia

Author

Doust, Catherine, Fontanillas, Pierre, Eising, Else, Gordon, Scott D., Wang Zhengjun, Alagöz, Gökberk, Molz, Barbara, 23andMe Research Team, Quantitative Trait Working Group of the GenLang Consortium, St Pourcain, Beate, Francks, Clyde, Marioni, Riccardo E., Zhao Jingjing, Paracchini, Silvia, Talcott, Joel B., Monaco, Anthony P., Stein, John F., Gruen, Jeffrey R., Olson, Richard K., Willcutt, Erik G., DeFries, John C., Pennington, Bruce F., Smith, Shelley D., Wright, Margaret J., Martin, Nicholas G., Auton, Adam, Bates, Timothy C., Fisher, Simon E., Luciano, Michelle, Otorhinolaryngology and Head and Neck Surgery, The Royal Society, University of St Andrews. School of Medicine, University of St Andrews. Centre for Biophotonics, University of St Andrews. Biomedical Sciences Research Complex, University of St Andrews. St Andrews Bioinformatics Unit, University of St Andrews. Cellular Medicine Division, Biological Psychology, Amsterdam Reproduction & Development, APH - Mental Health, APH - Methodology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, and LEARN! - Educational neuroscience, learning and development

Subjects
Adult, Neuroinformatics, media_common.quotation_subject, QH426 Genetics, Biology, behavioral disciplines and activities, Dyslexia, All institutes and research themes of the Radboud University Medical Center, Asian People, Reading (process), mental disorders, medicine, Genetics, Humans, Attention deficit hyperactivity disorder, Child, Association (psychology), QH426, Language, media_common, MCC, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], DAS, Cognition, Heritability, medicine.disease, nervous system diseases, Reading, Genetic marker, Sample size determination, genome-wide association studies, Genome-Wide Association Study
Abstract

Funding: EE, GA, BM, BSP, CF and SEF are supported by the Max Planck Society (Germany). The Chinese Reading Study was supported by grants from the National Natural Science Foundation of China Youth Project (Grant No. 61807023), the Youth Fund for Humanities and Social Sciences Research of the Ministry of Education (Grant No. 19YJC190023 and 17XJC190010), and the Natural Science Basic Research Plan in Shaanxi Province of China (Grant No. 2021JQ-309). SP is funded by the Royal Society. Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found. Here we performed a genome-wide association study of 51,800 adults self-reporting a dyslexia diagnosis and 1,087,070 controls and identified 42 independent genome-wide significant loci: 15 in genes linked to cognitive ability/educational attainment, and 27 new and potentially more specific to dyslexia. We validated 23 loci (13 new) in independent cohorts of Chinese and European ancestry. Genetic etiology of dyslexia was similar between sexes, and genetic covariance with many traits was found, including ambidexterity, but not neuroanatomical measures of language-related circuitry. Dyslexia polygenic scores explained up to 6% of variance in reading traits, and might in future contribute to earlier identification and remediation of dyslexia. Publisher PDF

Published
2022

7. Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people

Author

Eising, Else, primary, Mirza-Schreiber, Nazanin, additional, de Zeeuw, Eveline L., additional, Wang, Carol A., additional, Truong, Dongnhu T., additional, Allegrini, Andrea G., additional, Shapland, Chin Yang, additional, Zhu, Gu, additional, Wigg, Karen G., additional, Gerritse, Margot L., additional, Molz, Barbara, additional, Alagöz, Gökberk, additional, Gialluisi, Alessandro, additional, Abbondanza, Filippo, additional, Rimfeld, Kaili, additional, van Donkelaar, Marjolein, additional, Liao, Zhijie, additional, Jansen, Philip R., additional, Andlauer, Till F. M., additional, Bates, Timothy C., additional, Bernard, Manon, additional, Blokland, Kirsten, additional, Bonte, Milene, additional, Børglum, Anders D., additional, Bourgeron, Thomas, additional, Brandeis, Daniel, additional, Ceroni, Fabiola, additional, Csépe, Valéria, additional, Dale, Philip S., additional, de Jong, Peter F., additional, DeFries, John C., additional, Démonet, Jean-François, additional, Demontis, Ditte, additional, Feng, Yu, additional, Gordon, Scott D., additional, Guger, Sharon L., additional, Hayiou-Thomas, Marianna E., additional, Hernández-Cabrera, Juan A., additional, Hottenga, Jouke-Jan, additional, Hulme, Charles, additional, Kere, Juha, additional, Kerr, Elizabeth N., additional, Koomar, Tanner, additional, Landerl, Karin, additional, Leonard, Gabriel T., additional, Lovett, Maureen W., additional, Lyytinen, Heikki, additional, Martin, Nicholas G., additional, Martinelli, Angela, additional, Maurer, Urs, additional, Michaelson, Jacob J., additional, Moll, Kristina, additional, Monaco, Anthony P., additional, Morgan, Angela T., additional, Nöthen, Markus M., additional, Pausova, Zdenka, additional, Pennell, Craig E., additional, Pennington, Bruce F., additional, Price, Kaitlyn M., additional, Rajagopal, Veera M., additional, Ramus, Franck, additional, Richer, Louis, additional, Simpson, Nuala H., additional, Smith, Shelley D., additional, Snowling, Margaret J., additional, Stein, John, additional, Strug, Lisa J., additional, Talcott, Joel B., additional, Tiemeier, Henning, additional, van der Schroeff, Marc P., additional, Verhoef, Ellen, additional, Watkins, Kate E., additional, Wilkinson, Margaret, additional, Wright, Margaret J., additional, Barr, Cathy L., additional, Boomsma, Dorret I., additional, Carreiras, Manuel, additional, Franken, Marie-Christine J., additional, Gruen, Jeffrey R., additional, Luciano, Michelle, additional, Müller-Myhsok, Bertram, additional, Newbury, Dianne F., additional, Olson, Richard K., additional, Paracchini, Silvia, additional, Paus, Tomáš, additional, Plomin, Robert, additional, Reilly, Sheena, additional, Schulte-Körne, Gerd, additional, Tomblin, J. Bruce, additional, van Bergen, Elsje, additional, Whitehouse, Andrew J. O., additional, Willcutt, Erik G., additional, St Pourcain, Beate, additional, Francks, Clyde, additional, and Fisher, Simon E., additional

Published
2022
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8. Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people

Author

Eising, Else, Mirza-Schreiber, Nazanin, de Zeeuw, Eveline L., Wang, Carol A., Truong, Dongnhu T., Allegrini, Andrea G., Shapland, Chin Yang, Zhu, Gu, Wigg, Karen G., Gerritse, Margot L., Molz, Barbara, Alagöz, Gökberk, Gialluisi, Alessandro, Abbondanza, Filippo, Rimfeld, Kaili, van Donkelaar, Marjolein, Liao, Zhijie, Jansen, Philip R., Andlauer, Till F.M., Bates, Timothy C., Bernard, Manon, Blokland, Kirsten, Bonte, Milene, Børglum, Anders D., Bourgeron, Thomas, Brandeis, Daniel, Ceroni, Fabiola, Csépe, Valéria, Dale, Philip S., de Jong, Peter F., DeFries, John C., Démonet, Jean François, Demontis, Ditte, Feng, Yu, Gordon, Scott D., Guger, Sharon L., Hayiou-Thomas, Marianna E., Hernández-Cabrera, Juan A., Hottenga, Jouke Jan, Hulme, Charles, Kere, Juha, Kerr, Elizabeth N., Koomar, Tanner, Landerl, Karin, Leonard, Gabriel T., Lovett, Maureen W., Lyytinen, Heikki, Martin, Nicholas G., Martinelli, Angela, Maurer, Urs, Michaelson, Jacob J., Moll, Kristina, Monaco, Anthony P., Morgan, Angela T., Nöthen, Markus M., Pausova, Zdenka, Pennell, Craig E., Pennington, Bruce F., Price, Kaitlyn M., Rajagopal, Veera M., Ramus, Franck, Richer, Louis, Simpson, Nuala H., Smith, Shelley D., Snowling, Margaret J., Stein, John, Strug, Lisa J., Talcott, Joel B., Tiemeier, Henning, van der Schroeff, Marc P., Verhoef, Ellen, Watkins, Kate E., Wilkinson, Margaret, Wright, Margaret J., Barr, Cathy L., Boomsma, Dorret I., Carreiras, Manuel, Franken, Marie Christine J., Gruen, Jeffrey R., Luciano, Michelle, Müller-Myhsok, Bertram, Newbury, Dianne F., Olson, Richard K., Paracchini, Silvia, Paus, Tomáš, Plomin, Robert, Reilly, Sheena, Schulte-Körne, Gerd, Tomblin, J. Bruce, van Bergen, Elsje, Whitehouse, Andrew J.O., Willcutt, Erik G., St Pourcain, Beate, Francks, Clyde, Fisher, Simon E., Eising, Else, Mirza-Schreiber, Nazanin, de Zeeuw, Eveline L., Wang, Carol A., Truong, Dongnhu T., Allegrini, Andrea G., Shapland, Chin Yang, Zhu, Gu, Wigg, Karen G., Gerritse, Margot L., Molz, Barbara, Alagöz, Gökberk, Gialluisi, Alessandro, Abbondanza, Filippo, Rimfeld, Kaili, van Donkelaar, Marjolein, Liao, Zhijie, Jansen, Philip R., Andlauer, Till F.M., Bates, Timothy C., Bernard, Manon, Blokland, Kirsten, Bonte, Milene, Børglum, Anders D., Bourgeron, Thomas, Brandeis, Daniel, Ceroni, Fabiola, Csépe, Valéria, Dale, Philip S., de Jong, Peter F., DeFries, John C., Démonet, Jean François, Demontis, Ditte, Feng, Yu, Gordon, Scott D., Guger, Sharon L., Hayiou-Thomas, Marianna E., Hernández-Cabrera, Juan A., Hottenga, Jouke Jan, Hulme, Charles, Kere, Juha, Kerr, Elizabeth N., Koomar, Tanner, Landerl, Karin, Leonard, Gabriel T., Lovett, Maureen W., Lyytinen, Heikki, Martin, Nicholas G., Martinelli, Angela, Maurer, Urs, Michaelson, Jacob J., Moll, Kristina, Monaco, Anthony P., Morgan, Angela T., Nöthen, Markus M., Pausova, Zdenka, Pennell, Craig E., Pennington, Bruce F., Price, Kaitlyn M., Rajagopal, Veera M., Ramus, Franck, Richer, Louis, Simpson, Nuala H., Smith, Shelley D., Snowling, Margaret J., Stein, John, Strug, Lisa J., Talcott, Joel B., Tiemeier, Henning, van der Schroeff, Marc P., Verhoef, Ellen, Watkins, Kate E., Wilkinson, Margaret, Wright, Margaret J., Barr, Cathy L., Boomsma, Dorret I., Carreiras, Manuel, Franken, Marie Christine J., Gruen, Jeffrey R., Luciano, Michelle, Müller-Myhsok, Bertram, Newbury, Dianne F., Olson, Richard K., Paracchini, Silvia, Paus, Tomáš, Plomin, Robert, Reilly, Sheena, Schulte-Körne, Gerd, Tomblin, J. Bruce, van Bergen, Elsje, Whitehouse, Andrew J.O., Willcutt, Erik G., St Pourcain, Beate, Francks, Clyde, and Fisher, Simon E.

Abstract

The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in samples of 13,633 to 33,959 participants aged 5 to 26 y. We identified genome-wide significant association with word reading (rs11208009, P = 1.098 × 10-8) at a locus that has not been associated with intelligence or educational attainment. All five reading-/language-related traits showed robust SNP heritability, accounting for 13 to 26% of trait variability. Genomic structural equation modeling revealed a shared genetic factor explaining most of the variation in word/nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence, and educational attainment. A multivariate GWAS of word/nonword reading, spelling, and phoneme awareness maximized power for follow-up investigation. Genetic correlation analysis with neuroimaging traits identified an association with the surface area of the banks of the left superior temporal sulcus, a brain region linked to the processing of spoken and written language. Heritability was enriched for genomic elements regulating gene expression in the fetal brain and in chromosomal regions that are depleted of Neanderthal variants. Together, these results provide avenues for deciphering the biological underpinnings of uniquely human traits.

Published
2022

12. Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia

Author

Gialluisi, Alessandro, Andlauer, Till F.M., Mirza-Schreiber, Nazanin, Moll, Kristina, Becker, Jessica, Hoffmann, Per, Ludwig, Kerstin U., Czamara, Darina, Pourcain, Beate St, Honbolygó, Ferenc, Tóth, Dénes, Csépe, Valéria, Huguet, Guillaume, Chaix, Yves, Iannuzzi, Stephanie, Demonet, Jean Francois, Morris, Andrew P., Hulslander, Jacqueline, Willcutt, Erik G., DeFries, John C., Olson, Richard K., Smith, Shelley D., Pennington, Bruce F., Vaessen, Anniek, Maurer, Urs, Lyytinen, Heikki, Peyrard-Janvid, Myriam, Leppänen, Paavo H.T., Brandeis, Daniel, Bonte, Milene, Stein, John F., Talcott, Joel B., Fauchereau, Fabien, Wilcke, Arndt, Kirsten, Holger, Müller, Bent, Francks, Clyde, Bourgeron, Thomas, Monaco, Anthony P., Ramus, Franck, Landerl, Karin, Kere, Juha, Scerri, Thomas S., Paracchini, Silvia, Fisher, Simon E., Schumacher, Johannes, Nöthen, Markus M., Müller-Myhsok, Bertram, and Schulte-Körne, Gerd

Abstract

Developmental dyslexia (DD) is a learning disorder affecting the ability to read, with a heritability of 40–60%. A notable part of this heritability remains unexplained, and large genetic studies are warranted to identify new susceptibility genes and clarify the genetic bases of dyslexia. We carried out a genome-wide association study (GWAS) on 2274 dyslexia cases and 6272 controls, testing associations at the single variant, gene, and pathway level, and estimating heritability using single-nucleotide polymorphism (SNP) data. We also calculated polygenic scores (PGSs) based on large-scale GWAS data for different neuropsychiatric disorders and cortical brain measures, educational attainment, and fluid intelligence, testing them for association with dyslexia status in our sample. We observed statistically significant (p < 2.8 × 10−6) enrichment of associations at the gene level, for LOC388780 (20p13; uncharacterized gene), and for VEPH1 (3q25), a gene implicated in brain development. We estimated an SNP-based heritability of 20–25% for DD, and observed significant associations of dyslexia risk with PGSs for attention deficit hyperactivity disorder (at pT = 0.05 in the training GWAS: OR = 1.23[1.16; 1.30] per standard deviation increase; p = 8 × 10−13), bipolar disorder (1.53[1.44; 1.63]; p = 1 × 10−43), schizophrenia (1.36[1.28; 1.45]; p = 4 × 10−22), psychiatric cross-disorder susceptibility (1.23[1.16; 1.30]; p = 3 × 10−12), cortical thickness of the transverse temporal gyrus (0.90[0.86; 0.96]; p = 5 × 10−4), educational attainment (0.86[0.82; 0.91]; p = 2 × 10−7), and intelligence (0.72[0.68; 0.76]; p = 9 × 10−29). This study suggests an important contribution of common genetic variants to dyslexia risk, and novel genomic overlaps with psychiatric conditions like bipolar disorder, schizophrenia, and cross-disorder susceptibility. Moreover, it revealed the presence of shared genetic foundations with a neural correlate previously implicated in dyslexia by neuroimaging evidence.

Published
2021

14. Genome Maps III

Author

Mandel, Jean-Louis, Monaco, Anthony P., Nelson, David L., Schlessinger, David, Willard, Huntington F., Chipperfield, Michael, Pearson, Peter, Gilna, Paul, and Cinkosky, Michael

Published
1992

25. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Author

Casey, Jillian P., Magalhaes, Tiago, Conroy, Judith M., Regan, Regina, Shah, Naisha, Anney, Richard, Shields, Denis C., Abrahams, Brett S., Almeida, Joana, Bacchelli, Elena, Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Cali, Phil, Correia, Catarina, Corsello, Christina, Coutanche, Marc, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Foley, Suzanne, Fombonne, Eric, Freitag, Christine M., Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Green, Jonathan, Guter, Stephen J., Hakonarson, Hakon, Holt, Richard, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M., Kolevzon, Alexander, Lamb, Janine A., Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Lord, Catherine, Lund, Sabata C., Maestrini, Elena, Mantoulan, Carine, Marshall, Christian R., McConachie, Helen, McDougle, Christopher J., McGrath, Jane, McMahon, William M., Merikangas, Alison, Miller, Judith, Minopoli, Fiorella, Mirza, Ghazala K., Munson, Jeff, Nelson, Stanley F., Nygren, Gudrun, Oliveira, Guiomar, Pagnamenta, Alistair T., Papanikolaou, Katerina, Parr, Jeremy R., Parrini, Barbara, Pickles, Andrew, Pinto, Dalila, Piven, Joseph, Posey, David J., Poustka, Annemarie, Poustka, Fritz, Ragoussis, Jiannis, Roge, Bernadette, Rutter, Michael L., Sequeira, Ana F., Soorya, Latha, Sousa, Inês, Sykes, Nuala, Stoppioni, Vera, Tancredi, Raffaella, Tauber, Maïté, Thompson, Ann P., Thomson, Susanne, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Vorstman, Jacob A. S., Wallace, Simon, Wang, Kai, Wassink, Thomas H., White, Kathy, Wing, Kirsty, Wittemeyer, Kerstin, Yaspan, Brian L., Zwaigenbaum, Lonnie, Betancur, Catalina, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Geschwind, Daniel H., Haines, Jonathan L., Hallmayer, Joachim, Monaco, Anthony P., Nurnberger, Jr., John I., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Scherer, Stephen W., Sutcliffe, James S., Szatmari, Peter, Vieland, Veronica J., Wijsman, Ellen M., Green, Andrew, Gill, Michael, Gallagher, Louise, Vicente, Astrid, and Ennis, Sean

Published
2012
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28. CMIP and ATP2C2 modulate phonological short-term memory in language impairment

Author

Newbury, Dianne F., Winchester, Laura, Addis, Laura, Paracchini, Silvia, Buckingham, Lyn-Louise, Clark, Ann, Cohen, Wendy, Cowie, Hilary, Dworzynski, Katharina, Everitt, Andrea, Goodyer, Ian M., Hennessy, Elizabeth, Kindley, A. David, Miller, Laura L., Nasir, Jamal, O'Hare, Anne, Shaw, Duncan, Simkin, Zoe, Simonoff, Emily, Slonims, Vicky, Watson, Jocelynne, Ragoussis, Jiannis, Fisher, Simon E., Seckl, Jonathon R., Helms, Peter J., Bolton, Patrick F., Pickles, Andrew, Conti-Ramsden, Gina, Baird, Gillian, Bishop, Dorothy V.M., and Monaco, Anthony P.

Subjects
Language disorders -- Genetic aspects, Language disorders -- Research, Short-term memory -- Genetic aspects, Calcium-transporting ATPases -- Research, Human genome -- Research, Biological sciences
Abstract

A high-density screen of SLI1region of chromosome 16q associated with phonological short-term memory in the specific language impairment (SLI) developmental disorder is conducted to identify its causative genes. Results suggest that variants in CMIP, a gene encoding c-maf-inducing protein and ATP2C2, a gene encoding calcium-transporting ATPase, type 2C, member2 protein, located in the SLI1 region modulate phonological short-term memory in SLI.

Published
2009

29. A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12

Author

Asher, Julian E., Lamb, Janine A., Brocklebank, Denise, Cazier, Jean-Baptiste, Monaco, Anthony P., Maestrini, Elena, Addis, Laura, Sen, Mallika, and Baron-Cohen, Simon

Subjects
Microsatellites (Genetics) -- Usage, Neuroimaging -- Usage, Synesthesia -- Genetic aspects, X chromosome -- Research, Perception -- Analysis, Chromosome mapping -- Usage, Biological sciences
Abstract

The article discusses the results obtained from a whole-genome study and fine-mapping linkage study that is conducted to analyze the auditory-visual synesthesia, a neurological condition characterized by anomalous sensory perception. The results prove that the disorder is highly linked to various chromosomes, including 2q24, 5q33, 6p12, and 12p12.

Published
2009

30. Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia

Author

Gialluisi, Alessandro, Andlauer, Till F.M., Mirza-Schreiber, Nazanin, Moll, Kristina, Becker, Jessica, Hoffmann, Per, Ludwig, Kerstin U., Czamara, Darina, Pourcain, Beate St, Honbolygó, Ferenc, Tóth, Dénes, Csépe, Valéria, Huguet, Guillaume, Chaix, Yves, Iannuzzi, Stephanie, Demonet, Jean Francois, Morris, Andrew P., Hulslander, Jacqueline, Willcutt, Erik G., DeFries, John C., Olson, Richard K., Smith, Shelley D., Pennington, Bruce F., Vaessen, Anniek, Maurer, Urs, Lyytinen, Heikki, Peyrard-Janvid, Myriam, Leppänen, Paavo H.T., Brandeis, Daniel, Bonte, Milene, Stein, John F., Talcott, Joel B., Fauchereau, Fabien, Wilcke, Arndt, Kirsten, Holger, Müller, Bent, Francks, Clyde, Bourgeron, Thomas, Monaco, Anthony P., Ramus, Franck, Landerl, Karin, Kere, Juha, Scerri, Thomas S., Paracchini, Silvia, Fisher, Simon E., Schumacher, Johannes, Nöthen, Markus M., Müller-Myhsok, Bertram, Schulte-Körne, Gerd, Gialluisi, Alessandro, Andlauer, Till F.M., Mirza-Schreiber, Nazanin, Moll, Kristina, Becker, Jessica, Hoffmann, Per, Ludwig, Kerstin U., Czamara, Darina, Pourcain, Beate St, Honbolygó, Ferenc, Tóth, Dénes, Csépe, Valéria, Huguet, Guillaume, Chaix, Yves, Iannuzzi, Stephanie, Demonet, Jean Francois, Morris, Andrew P., Hulslander, Jacqueline, Willcutt, Erik G., DeFries, John C., Olson, Richard K., Smith, Shelley D., Pennington, Bruce F., Vaessen, Anniek, Maurer, Urs, Lyytinen, Heikki, Peyrard-Janvid, Myriam, Leppänen, Paavo H.T., Brandeis, Daniel, Bonte, Milene, Stein, John F., Talcott, Joel B., Fauchereau, Fabien, Wilcke, Arndt, Kirsten, Holger, Müller, Bent, Francks, Clyde, Bourgeron, Thomas, Monaco, Anthony P., Ramus, Franck, Landerl, Karin, Kere, Juha, Scerri, Thomas S., Paracchini, Silvia, Fisher, Simon E., Schumacher, Johannes, Nöthen, Markus M., Müller-Myhsok, Bertram, and Schulte-Körne, Gerd

Abstract

Developmental dyslexia (DD) is a learning disorder affecting the ability to read, with a heritability of 40–60%. A notable part of this heritability remains unexplained, and large genetic studies are warranted to identify new susceptibility genes and clarify the genetic bases of dyslexia. We carried out a genome-wide association study (GWAS) on 2274 dyslexia cases and 6272 controls, testing associations at the single variant, gene, and pathway level, and estimating heritability using single-nucleotide polymorphism (SNP) data. We also calculated polygenic scores (PGSs) based on large-scale GWAS data for different neuropsychiatric disorders and cortical brain measures, educational attainment, and fluid intelligence, testing them for association with dyslexia status in our sample. We observed statistically significant (p < 2.8 × 10−6) enrichment of associations at the gene level, for LOC388780 (20p13; uncharacterized gene), and for VEPH1 (3q25), a gene implicated in brain development. We estimated an SNP-based heritability of 20–25% for DD, and observed significant associations of dyslexia risk with PGSs for attention deficit hyperactivity disorder (at pT = 0.05 in the training GWAS: OR = 1.23[1.16; 1.30] per standard deviation increase; p = 8 × 10−13), bipolar disorder (1.53[1.44; 1.63]; p = 1 × 10−43), schizophrenia (1.36[1.28; 1.45]; p = 4 × 10−22), psychiatric cross-disorder susceptibility (1.23[1.16; 1.30]; p = 3 × 10−12), cortical thickness of the transverse temporal gyrus (0.90[0.86; 0.96]; p = 5 × 10−4), educational attainment (0.86[0.82; 0.91]; p = 2 × 10−7), and intelligence (0.72[0.68; 0.76]; p = 9 × 10−29). This study suggests an important contribution of common genetic variants to dyslexia risk, and novel genomic overlaps with psychiatric conditions like bipolar disorder, schizophrenia, and cross-disorder susceptibility. Moreover, it revealed the presence of shared genetic foundations with a neural correlate previously implicated in dyslexia by neuroimagin

Published
2020

31. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

Author

MacDermot, Kay D., Bonora, Elena, Sykes, Nuala, Coupe, Anne-Marie, Lai, Cecilia S.L., Vernes, Sonja C., Vargha-Khadem, Faraneh, McKenzie, Fiona, Smith, Robert L., Monaco, Anthony P., and Fisher, Simon E.

Subjects
Language disorders -- Causes of, Language disorders -- Genetic aspects, Language disorders -- Research, Speech disorders -- Genetic aspects, Speech disorders -- Research, Speech disorders -- Causes of, Biological sciences
Published
2005

35. A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11

Author

Ogdie, Matthew N., Macphie, I. Laurence, Minassian, Sonia L., Yang, May, Fisher, Simon E., Francks, Clyde, Cantor, Rita M., McCracken, James T., McGough, James J., Nelson, Stanley F., Monaco, Anthony P., and Smalley, Susan L.

Subjects
Attention-deficit hyperactivity disorder -- Genetic aspects, Genetic polymorphisms -- Research, Chromosome mapping -- Research, Biological sciences
Published
2003

36. Use of multivariate linkage analysis for dissection of a complex cognitive trait

Author

Marlow, Angela J., Fisher, Simon E., Francks, Clyde, MacPhie, I. Laurence, Cherny, Stacey S., Richardson, Alex J., Talcott, Joel B., Stein, John F., Monaco, Anthony P., and Cardon, Lon R.

Subjects
Linkage (Genetics) -- Physiological aspects, Mental illness -- Genetic aspects, Biological sciences
Published
2003

40. Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism. (Report)

Author

Smalley, Susan L., Kustanovich, Vlad, Minassian, Sonia L., Stone, Jennifer L., Ogdie, Matthew N., McGough, James J., McCracken, James T., MacPhie, I. Laurence, Francks, Clyde, Fisher, Simon E., Cantor, Rita M., Monaco, Anthony P., and Nelson, Stanley F.

Subjects
Human genetics, Attention-deficit hyperactivity disorder -- Health aspects, Attention-deficit hyperactivity disorder -- Genetic aspects, Attention-deficit hyperactivity disorder -- Demographic aspects, Attention-deficit hyperactivity disorder -- Research, Dopamine -- Genetic aspects, Chromosomes -- Genetic aspects, Biological sciences
Published
2002

41. A genomewide scan for loci involved in attention-deficit/ hyperactivity disorder

Author

Fisher, Simon E., Francks, Clyde, McCracken, James T., McGough, James J., Marlow, Angela J., MacPhie, I. Laurence, Newbury, Dianne F., Crawford, Lori R., Palmer, Christina G.S., Woodward, J. Arthur, Del'Homme, Melissa, Cantwell, Dennis P., Nelson, Stanley F., Monaco, Anthony P., and Smalley, Susan L.

Subjects
Genetic research -- Analysis, Attention-deficit hyperactivity disorder -- Causes of, Behavioral assessment -- Analysis, Diseases -- Causes and theories of causation, Heredity -- Genetic aspects, Biological sciences
Published
2002

42. A genomewide linkage screen for relative hand skill in sibling pairs. (Report)

Author

Francks, Clyde, Fisher, Simon E., MacPhie, I. Laurence, Richardson, Alex J., Marlow, Angela J., Stein, John F., and Monaco, Anthony P.

Subjects
Left- and right-handedness -- Genetic aspects, Brothers and sisters -- Genetic aspects, Reading disability -- Genetic aspects, Biological sciences
Published
2002

43. Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

Author

Pagnamenta, Alistair T, Khan, Hameed, Walker, Susan, Gerrelli, Dianne, Wing, Kirsty, Bonaglia, Maria Clara, Giorda, Roberto, Berney, Tom, Mani, Elisa, Molteni, Massimo, Pinto, Dalila, Le Couteur, Ann, Hallmayer, Joachim, Sutcliffe, James S, Szatmari, Peter, Paterson, Andrew D, Scherer, Stephen W, Vieland, Veronica J, and Monaco, Anthony P

Published
2011
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45. Functional impact of global rare copy number variation in autism spectrum disorders

Author

Pinto, Dalila, Pagnamenta, Alistair T., Klei, Lambertus, Anney, Richard, Merico, Daniele, Regan, Regina, Conroy, Judith, Magalhaes, Tiago R., Correia, Catarina, Abrahams, Brett S., Almeida, Joana, Bacchelli, Elena, Bader, Gary D., Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Bryson, Susan E., Carson, Andrew R., Casallo, Guillermo, Casey, Jillian, Chung, Brian H.Y., Cochrane, Lynne, Corsello, Christina, Crawford, Emily L., Crossett, Andrew, Cytrynbaum, Cheryl, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Drmic, Irene, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Fombonne, Eric, Freitag, Christine M., Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Goldberg, Jeremy, Green, Andrew, Green, Jonathan, Guter, Stephen J., Hakonarson, Hakon, Heron, Elizabeth A., Hill, Matthew, Holt, Richard, Howe, Jennifer L., Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M., Kolevzon, Alexander, Korvatska, Olena, Kustanovich, Vlad, Lajonchere, Clara M., Lamb, Janine A., Laskawiec, Magdalena, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Lionel, Anath C., Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C., Maestrini, Elena, Mahoney, William, Mantoulan, Carine, Marshall, Christian R., McConachie, Helen, McDougle, Christopher J., McGrath, Jane, McMahon, William M., Merikangas, Alison, Migita, Ohsuke, Minshew, Nancy J., Mirza, Ghazala K., Munson, Jeff, Nelson, Stanley F., Noakes, Carolyn, Noor, Abdul, Nygren, Gudrun, Oliveira, Guiomar, Papanikolaou, Katerina, Parr, Jeremy R., Parrini, Barbara, Paton, Tara, Pickles, Andrew, Pilorge, Marion, Piven, Joseph, Ponting, Chris P., Posey, David J., Poustka, Annemarie, Poustka, Fritz, Prasad, Aparna, Ragoussis, Jiannis, Renshaw, Katy, Rickaby, Jessica, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L., Bierut, Laura J., Rice, John P., Salt, Jeff, Sansom, Katherine, Sato, Daisuke, Segurado, Ricardo, Sequeira, Ana F., Senman, Lili, Shah, Naisha, Sheffield, Val C., Soorya, Latha, Sousa, Inês, Stein, Olaf, Sykes, Nuala, Stoppioni, Vera, Strawbridge, Christina, Tancredi, Raffaella, Tansey, Katherine, Thiruvahindrapduram, Bhooma, Thompson, Ann P., Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Wallace, Simon, Wang, Kai, Wang, Zhouzhi, Wassink, Thomas H., Webber, Caleb, Weksberg, Rosanna, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Wu, Jing, Yaspan, Brian L., Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Devlin, Bernie, Ennis, Sean, Gallagher, Louise, Geschwind, Daniel H., Gill, Michael, Haines, Jonathan L., Hallmayer, Joachim, Miller, Judith, Monaco, Anthony P., Nurnberger, John I., Jr, Paterson, Andrew D., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Szatmari, Peter, Vicente, Astrid M., Vieland, Veronica J., Wijsman, Ellen M., Scherer, Stephen W., Sutcliffe, James S., and Betancur, Catalina

Published
2010
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47. A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia

Author

Fisher, Simon E., Marlow, Angela J., Lamb, Janine, Maestrini, Elena, Williams, Dianne F., Richardson, Alex, J., Weeks, Daniel E., Stein, John F., and Monaco, Anthony P.

Subjects
Chromosome mapping -- Usage, Genetic disorders -- Genetic aspects, Dyslexia -- Genetic aspects, Articulation disorders -- Genetic aspects, Biological sciences
Abstract

Quantitative-trait locus (QTL) methods have been used to evaluate linkage for reading disability, developmental dyslexia, to the 6p25-21.3 region in a sample of 181 sibling pairs from 82 nuclear families selected for having a dyslexic proband. Linkage has been assessed directly for several quantitative measures that should correlate with different components of the phenotype rather than using categorical definitions of subtypes or using one composite measure. Findings show that the QTL affects orthographic and phonological skills and is not specific to phoneme awareness.

Published
1999

48. A genome-wide linkage and association scan reveals novel loci for autism

Author

Weiss, Lauren A., Arking, Dan E., Daly, Mark J., Chakravarti, Aravinda, Brune, Camille W., West, Kristen, O’Connor, Ashley, Hilton, Gina, Tomlinson, Rebecca L., West, Andrew B., Cook, Edwin H., Jr, Green, Todd, Chang, Shun-Chiao, Gabriel, Stacey, Gates, Casey, Hanson, Ellen M., Kirby, Andrew, Korn, Joshua, Kuruvilla, Finny, McCarroll, Steven, Morrow, Eric M., Neale, Benjamin, Purcell, Shaun, Sasanfar, Roksana, Sougnez, Carrie, Stevens, Christine, Altshuler, David, Gusella, James, Santangelo, Susan L., Sklar, Pamela, Tanzi, Rudolph, Anney, Richard, Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Berney, Tom, Betancur, Catalina, Bölte, Sven, Bolton, Patrick F., Brian, Jessica, Bryson, Susan E., Buxbaum, Joseph D., Cabrito, Ines, Cai, Guiqing, Cantor, Rita M., Coon, Hilary, Conroy, Judith, Correia, Catarina, Corsello, Christina, Crawford, Emily L., Cuccaro, Michael L., Dawson, Geraldine, de Jonge, Maretha, Devlin, Bernie, Duketis, Eftichia, Ennis, Sean, Estes, Annette, Farrar, Penny, Fombonne, Eric, Freitag, Christine M., Gallagher, Louise, Geschwind, Daniel H., Gilbert, John, Gill, Michael, Gillberg, Christopher, Goldberg, Jeremy, Green, Andrew, Green, Jonathan, Guter, Stephen J., Haines, Jonathan L., Hallmayer, Joachim F., Hus, Vanessa, Klauck, Sabine M., Korvatska, Olena, Lamb, Janine A., Laskawiec, Magdalena, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda J., Maestrini, Elena, Magalhaes, Tiago, Mahoney, William, Mantoulan, Carine, McConachie, Helen, McDougle, Christopher J., McMahon, William M., Marshall, Christian R., Miller, Judith, Minshew, Nancy J., Monaco, Anthony P., Munson, Jeff, Nurnberger, John I., Jr, Oliveira, Guiomar, Pagnamenta, Alistair, Papanikolaou, Katerina, Parr, Jeremy R., Paterson, Andrew D., Pericak-Vance, Margaret A., Pickles, Andrew, Pinto, Dalila, Piven, Joseph, Posey, David J., Poustka, Annemarie, Poustka, Fritz, Regan, Regina, Reichert, Jennifer, Renshaw, Katy, Roberts, Wendy, Roge, Bernadette, Rutter, Michael L., Salt, Jeff, Schellenberg, Gerard D., Scherer, Stephen W., Sheffield, Val, Sutcliffe, James S., Szatmari, Peter, Tansey, Katherine, Thompson, Ann P., Tsiantis, John, Van Engeland, Herman, Vicente, Astrid M., Vieland, Veronica J., Volkmar, Fred, Wallace, Simon, Wassink, Thomas H., Wijsman, Ellen M., Wing, Kirsty, Wittemeyer, Kerstin, Yaspan, Brian L., Zwaigenbaum, Lonnie, Yoo, Seung-Yun, Sean Hill, Robert, Mukaddes, Nahit M., Balkhy, Soher, Gascon, Generoso, Al-Saad, Samira, Hashmi, Asif, Ware, Janice, Joseph, Robert M., LeClair, Elaine, Partlow, Jennifer N., Barry, Brenda, Walsh, Christopher A., Pauls, David, Moilanen, Irma, Ebeling, Hanna, Mattila, Marja-Leena, Kuusikko, Sanna, Jussila, Katja, Ignatius, Jaakko, Tolouei, Ala, Ghadami, Majid, Rostami, Maryam, Hosseinipour, Azam, Valujerdi, Maryam, Andresen, Kara, Winkloski, Brian, Haddad, Stephen, Kunkel, Lou, Kohane, Zak, Tran, Tram, Won Kong, Sek, O’Neil, Stephanie Brewster, Hundley, Rachel, Holm, Ingrid, Peters, Heather, Baroni, Elizabeth, Cangialose, Aislyn, Jackson, Lindsay, Albers, Lisa, Becker, Ronald, Bridgemohan, Carolyn, Friedman, Sandra, Munir, Kerim, Nazir, Ramzi, Palfrey, Judith, Schonwald, Alison, Simmons, Esau, Rappaport, Leonard A., Gauthier, Julie, Mottron, Laurent, Joober, Ridha, Rouleau, Guy, Rehnstrom, Karola, von Wendt, Lennart, and Peltonen, Leena

Published
2009
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50. Refined genetic mapping of the Darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region

Author

Monk, Sarah, Sakuntabhai, Anavaj, Carter, Simon A., Bryce, Steven D., Cox, Roger, Harrington, Louise, Levy, Elaine, Ruiz-Perez, Victor L., Katsantoni, Eleni, Kodvawala, Ahmer, Munro, Colin S., Burge, Susan, Larregue, Marc, Nagy, Gyula, Rees, Jonathan L., Lathrop, Mark, Monaco, Anthony P., Strachan, Tom, and Hovnanian, Alain

Subjects
Genetic disorders -- Research, Chromosome mapping -- Usage, Skin -- Abnormalities, Keratinization -- Genetic aspects, Cell adhesion -- Genetic aspects, Biological sciences
Abstract

Darier disease (DD), an autosomal dominant skin disorder involving loss of adhesion between epidermal cells and abnormal keratinization, has been studied in four families. Linkage analysis has shown key recombination events to refine the DD locus to a

Published
1998

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