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。Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort
Huidan Wu et al.
CLINICAL GENETICS (2020)
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
F. Kyle Satterstrom et al.
CELL (2020)
The clinical relevance of intragenic NRXN1 deletions
Nele Cosemans et al.
JOURNAL OF MEDICAL GENETICS (2020)
SPG8 mutations in Italian families: clinical data and literature review
Federica Ginanneschi et al.
NEUROLOGICAL SCIENCES (2020)
Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2016
Matthew J. Maenner et al.
MMWR SURVEILLANCE SUMMARIES (2020)
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Lucilla Pizzo et al.
GENETICS IN MEDICINE (2019)
Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders
Patrick F. Sullivan et al.
CELL (2019)
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks
Elizabeth K. Ruzzo et al.
CELL (2019)
Neuronal impact of patient-specific aberrant NRXN1α splicing
Erin Flaherty et al.
NATURE GENETICS (2019)
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Hui Guo et al.
NATURE COMMUNICATIONS (2019)
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
Bradley P. Coe et al.
NATURE GENETICS (2019)
STRING v11: protein-protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets
Damian Szklarczyk et al.
NUCLEIC ACIDS RESEARCH (2019)
A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies
Yuwen Liu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Mitochondrial Etiology of Neuropsychiatric Disorders
Liming Pei et al.
BIOLOGICAL PSYCHIATRY (2018)
CoVaCS: a consensus variant calling system
Matteo Chiara et al.
BMC GENOMICS (2018)
Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex
Matthew Schwede et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2018)
Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder
Ny Hoang et al.
PATIENT EDUCATION AND COUNSELING (2018)
Peculiar combinations of individually nonpathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy
Leonardo Caporali et al.
PLOS GENETICS (2018)
Biparental Inheritance of Mitochondrial DNA in Humans
Shiyu Luo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Chelsea Lowther et al.
GENETICS IN MEDICINE (2017)
Gene-set analysis shows association between FMRP targets and autism spectrum disorder
Arija Jansen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
Daniel J. Weiner et al.
NATURE GENETICS (2017)
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Holly A. F. Stessman et al.
NATURE GENETICS (2017)
Synaptic Neurexin Complexes: A Molecular Code for the Logic of Neural Circuits
Thomas C. Sudhof
CELL (2017)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
mtDNA-Server: next-generation sequencing data analysis of human mitochondrial DNA in the cloud
Hansi Weissensteiner et al.
NUCLEIC ACIDS RESEARCH (2016)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Excess of rare, inherited truncating mutations in autism
Niklas Krumm et al.
NATURE GENETICS (2015)
Whole-genome sequencing of quartet families with autism spectrum disorder
Ryan K. C. Yuen et al.
NATURE MEDICINE (2015)
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Dalila Pinto et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
A Higher Mutational Burden in Females Supports a Female Protective Model in Neurodevelopmental Disorders
Sebastien Jacquemont et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing
Claudia Calabrese et al.
BIOINFORMATICS (2014)
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy
Carla Giordano et al.
BRAIN (2014)
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders
Jingjing Li et al.
MOLECULAR SYSTEMS BIOLOGY (2014)
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis et al.
NATURE (2014)
The contribution of de novo coding mutations to autism spectrum disorder
Ivan Iossifov et al.
NATURE (2014)
Autism spectrum disorder severity reflects the average contribution of de novo and familial influences
Elise B. Robinson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Universal heteroplasmy of human mitochondrial DNA
Brendan A. I. Payne et al.
HUMAN MOLECULAR GENETICS (2013)
A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort
Alison M. Elliott et al.
JOURNAL OF MEDICAL GENETICS (2013)
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Timothy W. Yu et al.
NEURON (2013)
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
Slave Petrovski et al.
PLOS GENETICS (2013)
Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder
Andrea K. Vaags et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Brian J. O'Roak et al.
NATURE (2012)
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
Hutton M. Kearney et al.
GENETICS IN MEDICINE (2011)
Spatio-temporal transcriptome of the human brain
Hyo Jung Kang et al.
NATURE (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
Characterization of the proteome, diseases and evolution of the human postsynaptic density
Alex Bayes et al.
NATURE NEUROSCIENCE (2011)
Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia
Alistair T. Pagnamenta et al.
BIOLOGICAL PSYCHIATRY (2010)
Regulation of Dendritic Spines, Spatial Memory, and Embryonic Development by the TANC Family of PSD-95-Interacting Proteins
Seungnam Han et al.
JOURNAL OF NEUROSCIENCE (2010)
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan et al.
NATURE GENETICS (2010)
Erbin controls dendritic morphogenesis by regulating localization of δ-catenin
Jyothi Arikkath et al.
JOURNAL OF NEUROSCIENCE (2008)
The broad autism phenotype questionnaire
Robert S. E. Hurley et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2007)
New members of the neurexin superfamily:: multiple rodent homologues of the human CASPR5 gene
Walther Traut et al.
MAMMALIAN GENOME (2006)
Measuring autistic traits: heritability, reliability and validity of the Social and Communication Disorders Checklist
DH Skuse et al.
BRITISH JOURNAL OF PSYCHIATRY (2005)
Regulation of neuregulin signaling by PSD-95 interacting with ErbB4 at CNS synapses
YZ Huang et al.
NEURON (2000)
分享论文
