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1
Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
In: ISSN: 0301-4851 ; EISSN: 1573-4978 ; Molecular Biology Reports ; https://hal-riip.archives-ouvertes.fr/pasteur-03565723 ; Molecular Biology Reports, Springer Verlag, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩ (2019)
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2
Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.
In: Human molecular genetics, vol 27, iss 24 (2018)
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3
GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.
In: Molecular psychiatry, vol 22, iss 3 (2017)
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4
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
In: American journal of human genetics, vol 99, iss 3 (2016)
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5
Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome
In: Research outputs 2014 to 2021 (2015)
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6
Functional annotation signatures of disease susceptibility loci improve SNP association analysis.
Iversen, ES; Lipton, G; Clyde, MA. - : BMC Genomics, 2014
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7
Associations of Prenatal Nicotine Exposure and the Dopamine Related Genes ANKK1 and DRD2 to Verbal Language
Eicher, John D.; Powers, Natalie R.; Cho, Kelly. - : Public Library of Science, 2013
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8
Reconstructing Roma History from Genome-Wide Data
Moorjani, Priya; Patterson, Nick; Loh, Po-Ru. - : Public Library of Science, 2013
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9
The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies.
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 (2013)
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10
DNA evidence for strong genome-wide pleiotropy of cognitive and learning abilities.
In: Behav Genet , 43 (4) 267 - 273. (2013) (2013)
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11
IQdb: An intelligence quotient score-associated gene resource for human intelligence
Kong, L; Cheng, L; Fan, L Y. - : Oxford University Press, 2013
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12
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci
J. Martin; S. Assassi; L. Diaz-Gallo. - : Oxford University Press, 2013
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13
Genetic Variants of FOXP2 and KIAA0319/TTRAP/THEM2 Locus Are Associated with Altered Brain Activation in Distinct Language-Related Regions
In: ISSN: 0270-6474 ; EISSN: 1529-2401 ; Journal of Neuroscience ; https://hal-pasteur.archives-ouvertes.fr/pasteur-01580207 ; Journal of Neuroscience, Society for Neuroscience, 2012, 32 (3), pp.817 - 825. ⟨10.1523/JNEUROSCI.5996-10.2012⟩ (2012)
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14
DCDC2, KIAA0319 and CMIP are associated with reading-related traits.
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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15
Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.
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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16
CNTNAP2 variants affect early language development in the general population.
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 ; ORA review team (2011)
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17
Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network.
In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, vol 126B, iss 1 (2004)
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18
In search of the perfect phenotype: an analysis of linkage and association studies of reading and reading-related processes.
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