Prioritization of neurodevelopmental disease genes by discovery of new mutations.
about
The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation MedicineModeling psychiatric disorders for developing effective treatmentsNew insights into the generation and role of de novo mutations in health and diseaseModeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit developmentBurden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesThe ageing genome, clonal mosaicism and chronic disease.Prioritizing the development of mouse models for childhood brain disordersAlteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome.Neurogenetic analysis of childhood disintegrative disorder.Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations.Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity.Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism.ExCNVSS: A Noise-Robust Method for Copy Number Variation Detection in Whole Exome Sequencing Data.Large-scale genomics unveils the genetic architecture of psychiatric disordersIn silico molecular cytogenetics: a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research.Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assemblyThe Role of Epigenetic Change in Autism Spectrum Disorders.Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders.Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.A Common Polymorphism in SCN2A Predicts General Cognitive Ability through Effects on PFC PhysiologySystems biology and gene networks in neurodevelopmental and neurodegenerative disorders.The genetics and neurobiology of ESSENCE: The third Birgit Olsson lectureVisualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo databasePathway-driven discovery of epilepsy genes.CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdensEtiology of autism spectrum disorder: a genomics perspective.Pathway Network Analyses for Autism Reveal Multisystem Involvement, Major Overlaps with Other Diseases and Convergence upon MAPK and Calcium Signaling.Genetic studies in intellectual disability and related disorders.Rare genetic variants in CX3CR1 and their contribution to the increased risk of schizophrenia and autism spectrum disorders.Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders.Gene Prioritization by Integrated Analysis of Protein Structural and Network Topological Properties for the Protein-Protein Interaction Network of Neurological Disorders.Shifting the focus toward rare variants in schizophrenia to close the gap from genotype to phenotype.Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life.mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.An Incomplete Understanding of Human Genetic Variation.
P2860
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P2860
Prioritization of neurodevelopmental disease genes by discovery of new mutations.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Prioritization of neurodevelopmental disease genes by discovery of new mutations.
@ast
Prioritization of neurodevelopmental disease genes by discovery of new mutations.
@en
type
label
Prioritization of neurodevelopmental disease genes by discovery of new mutations.
@ast
Prioritization of neurodevelopmental disease genes by discovery of new mutations.
@en
prefLabel
Prioritization of neurodevelopmental disease genes by discovery of new mutations.
@ast
Prioritization of neurodevelopmental disease genes by discovery of new mutations.
@en
P2860
P356
P1433
P1476
Prioritization of neurodevelopmental disease genes by discovery of new mutations.
@en
P2093
Evan E Eichler
Niklas Krumm
P2860
P2888
P304
P356
10.1038/NN.3703
P407
P577
2014-05-27T00:00:00Z