A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.
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Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.NINDS epilepsy and autism spectrum disorders workshop reportMutations in ARID2 are associated with intellectual disabilities.Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.A de novo convergence of autism genetics and molecular neuroscience.Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach.Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methodsCaught in the AKT: identification of a de novo pathway in MCAP and MPPH and its therapeutic implications.Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.Resequencing and association analysis of PTPRA, a possible susceptibility gene for schizophrenia and autism spectrum disorders.Smokescreen: a targeted genotyping array for addiction researchIncorporating Functional Information in Tests of Excess De Novo Mutational Load.De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autismGenes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo databaseDe novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotoniaNext-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective.The role of de novo mutations in the genetics of autism spectrum disorders.Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.Genetic studies of schizophrenia: an update.Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.The Rise and Rise of Exome Sequencing.mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.Resequencing and Association Analysis of Six PSD-95-Related Genes as Possible Susceptibility Genes for Schizophrenia and Autism Spectrum Disorders.Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.A genetic counselor's guide to using next-generation sequencing in clinical practice.Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.Novel and de novo mutations in pediatric refractory epilepsy
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A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artikel ilmiah
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artículo científico
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A new paradigm emerges from th ...... of neurodevelopmental disease.
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A new paradigm emerges from th ...... of neurodevelopmental disease.
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A new paradigm emerges from th ...... of neurodevelopmental disease.
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P2093
P2860
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A new paradigm emerges from th ...... of neurodevelopmental disease.
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P2093
P2860
P2888
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P356
10.1038/MP.2012.58
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2012-05-29T00:00:00Z
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P6179
1000047426