{ "items": [ "\n\n
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\n Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.\n

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Cogn\u00e9 B. et al, (2019), Am J Hum Genet, 104, 530 - 541

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\n Predicting Splicing from Primary Sequence with Deep Learning.\n

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Jaganathan K. et al, (2019), Cell, 176, 535 - 548.e24

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\n DE NOVO CODING VARIANTS ARE STRONGLY ASSOCIATED WITH TOURETTE SYNDROME\n

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Willsey J. et al, (2019), EUROPEAN NEUROPSYCHOPHARMACOLOGY, 29, S737 - S737

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\n DISCOVERY AND CHARACTERIZATION OF 102 GENES ASSOCIATED WITH AUTISM FROM EXOME SEQUENCING OF 37,269 INDIVIDUALS\n

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Satterstrom F. et al, (2019), EUROPEAN NEUROPSYCHOPHARMACOLOGY, 29, 1083 - 1084

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\n LIMITED CONTRIBUTION OF RARE, NONCODING VARIATION TO AUTISM SPECTRUM DISORDER FROM SEQUENCING OF 2,076 GENOMES IN QUARTET FAMILIES\n

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Werling D. et al, (2019), EUROPEAN NEUROPSYCHOPHARMACOLOGY, 29, S785 - S785

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\n Systematic evaluation of prenatal and pediatric diagnostic yields from whole-genome sequencing in 8,954 individuals\n

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Lowther C. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1103 - 1103

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\n Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder\n

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An JY. et al, (2018), Science, 362

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\n Integrative functional genomic analysis of human brain development and neuropsychiatric risks\n

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Li M. et al, (2018), Science, 362

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\n De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis\n

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Wang S. et al, (2018), Cell Reports, 24, 3441 - 3454.e12

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\n The autism-associated gene Scn2a plays an essential role in synaptic stability and learning\n

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Spratt PWE. et al, (2018)

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\n Progress in Understanding and Treating SCN2A-Mediated Disorders\n

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Sanders SJ. et al, (2018), Trends in Neurosciences, 41, 442 - 456

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\n Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium (Nature Neuroscience, (2017), 20, 12, (1661-1668), 10.1038/s41593-017-0017-9)\n

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Sanders SJ. et al, (2018), Nature Neuroscience, 21

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\n Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia\n

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Guissart C. et al, (2018), American Journal of Human Genetics, 102, 744 - 759

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\n An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder\n

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Werling DM. et al, (2018), Nature Genetics, 50, 727 - 736

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\n DIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/\u03b2-catenin signaling\n

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Martin PM. et al, (2018), Molecular Psychiatry, 23, 467 - 475

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\n Automating Installation of the Integrating Biology and the Bedside (i2b2) Platform\n

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Wagholikar KB. et al, (2018), BIOMEDICAL INFORMATICS INSIGHTS, 10

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\n Children with autism spectrum disorder who improve with fever: Insights from the Simons Simplex Collection\n

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Grzadzinski R. et al, (2018), Autism Research, 11, 175 - 184

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\n Making precision medicine work at the bedside without a universal health record: the MS BioScreen experience\n

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Bove R. et al, (2018), MULTIPLE SCLEROSIS JOURNAL, 24, 799 - 799

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\n Whole genome sequencing in psychiatric disorders: The WGSPD consortium\n

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Sanders SJ. et al, (2017), Nature Neuroscience, 20, 1661 - 1668

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\n De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability\n

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K\u00fcry S. et al, (2017), American Journal of Human Genetics, 101, 768 - 788

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