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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 Page: 1 2 3 4 5...7 Hits 1 – 20 of 140 1 Cortical microstructure in primary progressive aphasia: a multicenter study. Illán-Gala, Ignacio; Montal, Victor; Borrego-Écija, Sergi... In: Alzheimer's research & therapy, vol 14, iss 1 (2022) BASE Show details 2 Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome Douard, Elise; Zeribi, Abderrahim; Schramm, Catherine; Tamer, Petra; Loum, Mor Absa; Nowak, Sabrina; Saci, Zohra; Lord, Marie-Pier; Rodríguez-Herreros, Borja; Jean-Louis, Martineau; Moreau, Clara; Loth, Eva; Schumann, Gunter; Pausova, Zdenka; Elsabbagh, Mayada; Almasy, Laura; Glahn, David,; Bourgeron, Thomas; Labbe, Aurélie; Paus, Tomas; Mottron, Laurent; Greenwood, Celia,; Huguet, Guillaume; Jacquemont, Sébastien In: ISSN: 0002-953X ; EISSN: 1535-7228 ; American Journal of Psychiatry ; https://hal-pasteur.archives-ouvertes.fr/pasteur-03325371 ; American Journal of Psychiatry, American Psychiatric Publishing, 2021, 178 (1), pp.87-98. ⟨10.1176/appi.ajp.2020.19080834⟩ (2021) Abstract: International audience ; Objective:Deleterious copy number variants (CNVs) are identified in up to 20% of individuals with autism. However, levels of autism risk conferred by most rare CNVs remain unknown. The authors recently developed statistical models to estimate the effect size on IQ of all CNVs, including undocumented ones. In this study, the authors extended this model to autism susceptibility.Methods:The authors identified CNVs in two autism populations (Simons Simplex Collection and MSSNG) and two unselected populations (IMAGEN and Saguenay Youth Study). Statistical models were used to test nine quantitative variables associated with genes encompassed in CNVs to explain their effects on IQ, autism susceptibility, and behavioral domains.Results:The “probability of being loss-of-function intolerant” (pLI) best explains the effect of CNVs on IQ and autism risk. Deleting 1 point of pLI decreases IQ by 2.6 points in autism and unselected populations. The effect of duplications on IQ is threefold smaller. Autism susceptibility increases when deleting or duplicating any point of pLI. This is true for individuals with high or low IQ and after removing de novo and known recurrent neuropsychiatric CNVs. When CNV effects on IQ are accounted for, autism susceptibility remains mostly unchanged for duplications but decreases for deletions. Model estimates for autism risk overlap with previously published observations. Deletions and duplications differentially affect social communication, behavior, and phonological memory, whereas both equally affect motor skills.Conclusions:Autism risk conferred by duplications is less influenced by IQ compared with deletions. The model applied in this study, trained on CNVs encompassing >4,500 genes, suggests highly polygenic properties of gene dosage with respect to autism risk and IQ loss. These models will help to interpret CNVs identified in the clinic. Keyword: [SCCO.NEUR]Cognitive science/Neuroscience; Autism Spectrum Disorder; Copy Number Variants; IQ; MESH: Adolescent; MESH: Adult; MESH: Autistic Disorder; MESH: Case-Control Studies; MESH: Child; MESH: DNA Copy Number Variations; MESH: Female; MESH: Gene Deletion; MESH: Gene Duplication; MESH: Genetic Predisposition to Disease; MESH: Genome; MESH: Humans; MESH: Intelligence; MESH: Male; MESH: Risk Factors URL: https://doi.org/10.1176/appi.ajp.2020.19080834 https://hal-pasteur.archives-ouvertes.fr/pasteur-03325371 BASE Hide details 3 The Visual Word Form Area compensates for auditory working memory dysfunction in schizophrenia. Herman, Alexander B; Brown, Ethan G; Dale, Corby L... In: Scientific reports, vol 10, iss 1 (2020) BASE Show details 4 Flicker fusion thresholds as a clinical identifier of a magnocellular-deficit dyslexic subgroup. Peters, Jessica L; Bavin, Edith L; Brown, Alyse. - : Springer Science and Business Media LLC, 2020. : Sci Rep, 2020 BASE Show details 5 Gene-level association results from applying gene- ε to mean corpuscular volume (MCV), assayed in European-ancestry individuals in the UK Biobank. Wei Cheng (52808); Sohini Ramachandran (36819); Lorin Crawford (4278949). - 2020 BASE Show details 6 Gene-level association results from applying gene- ε to body mass index (BMI), assayed in European-ancestry individuals in the UK Biobank. Wei Cheng (52808); Sohini Ramachandran (36819); Lorin Crawford (4278949). - 2020 BASE Show details 7 Gene-level association results from applying gene- ε to waist-hip ratio (WHR), assayed in European-ancestry individuals in the UK Biobank. Wei Cheng (52808); Sohini Ramachandran (36819); Lorin Crawford (4278949). - 2020 BASE Show details 8 Gene-level association results from applying gene- ε to body height (panels A and C) and mean platelet volume (MPV; panels B and D), assayed in European-ancestry individuals in the UK Biobank. Wei Cheng (52808); Sohini Ramachandran (36819); Lorin Crawford (4278949). - 2020 BASE Show details 9 Gene-level association results from applying gene- ε to platelet count (PLC), assayed in European-ancestry individuals in the UK Biobank. Wei Cheng (52808); Sohini Ramachandran (36819); Lorin Crawford (4278949). - 2020 BASE Show details 10 Identity construction and perception of violence by female residents of a domestic violence shelter Reinboldt, Rosicler Saloan. - : University of Stirling, 2020 BASE Show details 11 Effect of Compression on Musical Sound Quality in Cochlear Implant Users Gilbert, Melanie L; Jiradejvong, Patpong; Limb, Charles J In: Ear and Hearing, vol 40, iss 6 (2019) BASE Show details 12 Partial remission and early stages of pediatric type 1 diabetes display immunoregulatory changes. A pilot study Villalba Felipe, Adrián; Fonolleda, Mireia; Murillo-Vallés, Marta. - 2019 BASE Show details 13 The Russian version of the Oxford Cognitive Screen: validation study on stroke survivors Shendyapina, M; Kuzmina, E; Kazymaev, S. - 2019 BASE Show details 14 The role of phase synchronisation between low frequency amplitude modulations in child phonology and morphology speech tasks. ... Flanagan, Sheila; Goswami, Usha. - : Apollo - University of Cambridge Repository, 2018 BASE Show details 15 Focal versus distributed temporal cortex activity for speech sound category assignment Bouton, Sophie; Chambon, Valérian; Tyrand, Rémi... In: ISSN: 0027-8424 ; Proceedings of the National Academy of Sciences, Vol. 115, No 6 (2018) pp. E1299-E1308 (2018) BASE Show details 16 The role of phase synchronisation between low frequency amplitude modulations in child phonology and morphology speech tasks. Flanagan, Sheila; Goswami, Usha. - : Acoustical Society of America (ASA), 2018. : J Acoust Soc Am, 2018 BASE Show details 17 Linking Entropy at Rest with the Underlying Structural Connectivity in the Healthy and Lesioned Brain. Saenger, V.M.; Ponce-Alvarez, A.; Adhikari, M.... In: Cerebral cortex, vol. 28, no. 8, pp. 2948-2958 (2018) BASE Show details 18 ATTACHMENT IN INFANTS WITH CLEFT LIP AND/OR PALATE: MARGINAL SECURITY AND ITS CHANGES OVER TIME. Borghini, A.; Despars, J.; Habersaat, S.... In: Infant mental health journal, vol. 39, no. 2, pp. 242-253 (2018) BASE Show details 19 Data-driven classification of patients with primary progressive aphasia. Nestor, Peter J; Sajjadi, Seyed Ahmad; Patterson, Karalyn. - : eScholarship, University of California, 2017 BASE Show details 20 The 1-min Screening Test for Reading Problems in College Students: Psychometric Properties of the 1-min TIL Araújo, Susana; Sucena, Ana; Fernandes, Tânia. - : Wiley, 2017 BASE Show details Page: 1 2 3 4 5...7

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