相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Database Resources of the National Genomics Data Center, China National Center for Bioinformation in 2022
Yongbiao Xue et al.
NUCLEIC ACIDS RESEARCH (2022)
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder
Gabriella Doddato et al.
GENES (2022)
Case Report: Exome and RNA Sequencing Identify a Novel de novo Missense Variant in HNRNPK in a Chinese Patient With Au-Kline Syndrome
Xin Pan et al.
FRONTIERS IN GENETICS (2022)
Whole-genome sequencing combined RNA-sequencing analysis of patients with mutations in SET binding protein 1
Li Liu et al.
FRONTIERS IN NEUROSCIENCE (2022)
RNA sequencing role and application in clinical diagnostic
Fatemeh Peymani et al.
PEDIATRIC INVESTIGATION (2022)
Detection of aberrant gene expression events in RNA sequencing data
Vicente A. Yepez et al.
NATURE PROTOCOLS (2021)
KOBAS-i: intelligent prioritization and exploratory visualization of biological functions for gene enrichment analysis
Dechao Bu et al.
NUCLEIC ACIDS RESEARCH (2021)
The Genome Sequence Archive Family: Toward Explosive Data Growth and Diverse Data Types
Tingting Chen et al.
GENOMICS PROTEOMICS & BIOINFORMATICS (2021)
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients
Christian Staufner et al.
GENETICS IN MEDICINE (2020)
Shank2 Binds to aPKC and Controls Tight Junction Formation with Rap1 Signaling during Establishment of Epithelial Cell Polarity
Kazunori Sasaki et al.
CELL REPORTS (2020)
Neurodevelopmental Disorders: From Genetics to Functional Pathways
Ilaria Parenti et al.
TRENDS IN NEUROSCIENCES (2020)
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Scott Barish et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
Phenotypic spectrum of SHANK2-related neurodevelopmental disorder
Roseline Caumes et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)
Neurodevelopmental disorders-the history and future of a diagnostic concept
Deborah J. Morris-Rosendahl et al.
DIALOGUES IN CLINICAL NEUROSCIENCE (2020)
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations
Wei-Zhen Zhou et al.
HUMAN MUTATION (2019)
Prevalence and Trends of Developmental Disabilities among Children in the United States: 2009-2017
Benjamin Zablotsky et al.
PEDIATRICS (2019)
fastp: an ultra-fast all-in-one FASTQ preprocessor
Shifu Chen et al.
BIOINFORMATICS (2018)
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders
Siwei Chen et al.
NATURE GENETICS (2018)
OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data
Felix Brechtmann et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
Hui Guo et al.
MOLECULAR AUTISM (2018)
SHANK proteins: roles at the synapse and in autism spectrum disorder
Patricia Monteiro et al.
NATURE REVIEWS NEUROSCIENCE (2017)
Genetic diagnosis of Mendelian disorders via RNA sequencing
Laura S. Kremer et al.
NATURE COMMUNICATIONS (2017)
Genomic diagnosis for children with intellectual disability and/or developmental delay
Kevin M. Bowling et al.
GENOME MEDICINE (2017)
De Novo 11q Deletion Including SHANK2 in a Patient with Global Developmental Delay
Cherisse A. Marcou et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Shank-cortactin interactions control actin dynamics to maintain flexibility of neuronal spines and synapses
Harold D. MacGillavry et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2016)
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
Nilah M. Ioannidis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
MultiQC: summarize analysis results for multiple tools and samples in a single report
Philip Ewels et al.
BIOINFORMATICS (2016)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
The Diverse Genetic Landscape of Neurodevelopmental Disorders
Wen F. Hu et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 15 (2014)
The Emerging Role of SHANK Genes in Neuropsychiatric Disorders
Audrey Guilmatre et al.
DEVELOPMENTAL NEUROBIOLOGY (2014)
Shank mutant mice as an animal model of autism
Juyoun Yoo et al.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2014)
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
Claire S. Leblond et al.
PLOS GENETICS (2014)
Quality control of next-generation sequencing data without a reference
Urmi H. Trivedil et al.
FRONTIERS IN GENETICS (2014)
STAR: ultrafast universal RNA-seq aligner
Alexander Dobin et al.
BIOINFORMATICS (2013)
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2
Michael J. Schmeisser et al.
NATURE (2012)
Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function
Hyejung Won et al.
NATURE (2012)
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
Claire S. Leblond et al.
PLOS GENETICS (2012)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Functional impact of global rare copy number variation in autism spectrum disorders
Dalila Pinto et al.
NATURE (2010)
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Simone Berkel et al.
NATURE GENETICS (2010)
Key role for gene dosage and synaptic homeostasis in autism spectrum disorders
Roberto Toro et al.
TRENDS IN GENETICS (2010)
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype
A. Wischmeijer et al.
MOLECULAR SYNDROMOLOGY (2010)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)