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。NAR Breacthrough Article denovo-db: a compendium of human de novo variants
Tychele N. Turner et al.
NUCLEIC ACIDS RESEARCH (2017)
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome
S. Dimassi et al.
CLINICAL GENETICS (2016)
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder
Elliot Sollis et al.
HUMAN MOLECULAR GENETICS (2016)
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function
Wei Ba et al.
HUMAN MOLECULAR GENETICS (2016)
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications
Fatima Torres et al.
JOURNAL OF MEDICAL GENETICS (2016)
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
B. W. M. van Bon et al.
MOLECULAR PSYCHIATRY (2016)
FlyBase: establishing a Gene Group resource for Drosophila melanogaster
Helen Attrill et al.
NUCLEIC ACIDS RESEARCH (2016)
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Asbjorg Stray-Pedersen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
Tychele N. Turner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
Holly A. F. Stessman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
A De Novo Frameshift Mutation in Chromodomain Helicase DNA-Binding Domain 8 (CHD8): A Case Report and Literature Review
Nancy Merner et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Toward an Interdisciplinary Approach to Understanding Sensory Function in Autism Spectrum Disorder
Carissa J. Cascio et al.
AUTISM RESEARCH (2016)
A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report
Anna Winczewska-Wiktor et al.
BMC NEUROLOGY (2016)
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila
Dorien Lugtenberg et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
A specific mutation in TBL1XR1 causes Pierpont syndrome
Charlotte A. Heinen et al.
JOURNAL OF MEDICAL GENETICS (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity
Josefine S. Witteveen et al.
NATURE GENETICS (2016)
STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy
Hannah Stamberger et al.
NEUROLOGY (2016)
A Drosophila RNAi library modulates Hippo pathway-dependent tissue growth
Joseph H. A. Vissers et al.
NATURE COMMUNICATIONS (2016)
De novo genic mutations among a Chinese autism spectrum disorder cohort
Tianyun Wang et al.
NATURE COMMUNICATIONS (2016)
Histone methyltransferase Ash1L mediates activity-dependent repression of neurexin-1α
Tao Zhu et al.
SCIENTIFIC REPORTS (2016)
POGZ truncating alleles cause syndromic intellectual disability
Janson White et al.
GENOME MEDICINE (2016)
A New Fiji-Based Algorithm That Systematically Quantifies Nine Synaptic Parameters Provides Insights into Drosophila NMJ Morphometry
Bonnie Nijhof et al.
PLOS COMPUTATIONAL BIOLOGY (2016)
BOD1 Is Required for Cognitive Function in Humans and Drosophila
Sahar Esmaeeli-Nieh et al.
PLOS GENETICS (2016)
Reduced habituation of auditory evoked potentials indicate cortical hyper-excitability in Fragile X Syndrome
L. E. Ethridge et al.
TRANSLATIONAL PSYCHIATRY (2016)
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
Concetta Cafiero et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment
Reymundo Lozano et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation
Akihito Takeuchi et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2015)
Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations
Yvan Herenger et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2015)
Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome
T. Busa et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2015)
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ
Ryoko Fukai et al.
JOURNAL OF HUMAN GENETICS (2015)
Cell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers
Tiziano Pramparo et al.
MOLECULAR SYSTEMS BIOLOGY (2015)
Loss of δ-catenin function in severe autism
Tychele N. Turner et al.
NATURE (2015)
Excess of rare, inherited truncating mutations in autism
Niklas Krumm et al.
NATURE GENETICS (2015)
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
Stephan J. Sanders et al.
NEURON (2015)
Low load for disruptive mutations in autism genes and their biased transmission
Ivan Iossifov et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
Kristin G. Ardlie et al.
SCIENCE (2015)
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Jason Homsy et al.
SCIENCE (2015)
The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment
Justin Cotney et al.
NATURE COMMUNICATIONS (2015)
Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants
Anthony J. Griswold et al.
MOLECULAR AUTISM (2015)
Further confirmation of the MED13L haploinsufficiency syndrome
Mieke M. van Haelst et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
The discovery of integrated gene networks for autism and related disorders
Fereydoun Hormozdiari et al.
GENOME RESEARCH (2015)
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
Alma Kuechler et al.
HUMAN GENETICS (2015)
Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects
Line M. Myklebust et al.
HUMAN MOLECULAR GENETICS (2015)
West Syndrome in a Patient With Schinzel-Giedion Syndrome
Fuyu Miyake et al.
JOURNAL OF CHILD NEUROLOGY (2015)
Large-scale discovery of novel genetic causes of developmental disorders
T. W. Fitzgerald et al.
NATURE (2015)
GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy
Johannes R. Lemke et al.
ANNALS OF NEUROLOGY (2014)
De novo SCN2A splice site mutation in a boy with Autism spectrum disorder
Teresa Tavassoli et al.
BMC MEDICAL GENETICS (2014)
A Genotype-First Approach to Defining the Subtypes of a Complex Disease
Holly A. Stessman et al.
CELL (2014)
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
Raphael Bernier et al.
CELL (2014)
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities
Anna-Lena Baasch et al.
EPILEPSIA (2014)
Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features
Valter Tucci et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein
Matthew F. Pescosolido et al.
JOURNAL OF MEDICAL GENETICS (2014)
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity
David R. Adams et al.
MOLECULAR GENETICS AND METABOLISM (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)
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
Celine Helsmoortel et al.
NATURE GENETICS (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Bradley P. Coe et al.
NATURE GENETICS (2014)
A Drosophila RNAi collection is subject to dominant phenotypic effects
Edward W. Green et al.
NATURE METHODS (2014)
Network Plasticity in Adaptive Filtering and Behavioral Habituation
Mani Ramaswami
NEURON (2014)
Patches of Disorganization in the Neocortex of Children with Autism
Rich Stoner et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
PIKE is essential for oligodendroglia development and CNS myelination
Chi Bun Chan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
Aarathi Sugathan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Recurrent de novo mutations implicate novel genes underlying simplex autism risk
B. J. O'Roak et al.
NATURE COMMUNICATIONS (2014)
The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses
Joseph D. Buxbaum et al.
MOLECULAR AUTISM (2014)
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene
Inga Freunscht et al.
BEHAVIORAL AND BRAIN FUNCTIONS (2013)
Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool
Edward Y. Chen et al.
BMC BIOINFORMATICS (2013)
Early brain enlargement and elevated extra-axial fluid in infants who develop autism spectrum disorder
Mark D. Shen et al.
BRAIN (2013)
What have we learned from recent twin studies about the etiology of neurodevelopmental disorders?
Danielle Posthuma et al.
CURRENT OPINION IN NEUROLOGY (2013)
Estimates of penetrance for recurrent pathogenic copy-number variations
Jill A. Rosenfeld et al.
GENETICS IN MEDICINE (2013)
Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation
Joseph B. Hiatt et al.
GENOME RESEARCH (2013)
CEP89 is required for mitochondrial metabolism and neuronal function in man and fly
Bregje W. M. van Bon et al.
HUMAN MOLECULAR GENETICS (2013)
Clinical Significance of De Novo and Inherited Copy-Number Variation
Anneke T. Vulto-van Silfhout et al.
HUMAN MUTATION (2013)
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila
Marjolein H. Willemsen et al.
JOURNAL OF MEDICAL GENETICS (2013)
De novo mutations in epileptic encephalopathies
Andrew S. Allen et al.
NATURE (2013)
Molecular basis for N-terminal acetylation by the heterodimeric NatA complex
Glen Liszczak et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2013)
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
Kazuyuki Nakamura et al.
NEUROLOGY (2013)
Reduced gaze aftereffects are related to difficulties categorising gaze direction in children with autism
Elizabeth Pellicano et al.
NEUROPSYCHOLOGIA (2013)
Novel de novo SCN2A Mutation in a Child With Migrating Focal Seizures of Infancy
Radhika Dhamija et al.
PEDIATRIC NEUROLOGY (2013)
Human Intellectual Disability Genes Form Conserved Functional Modules in Drosophila
Merel A. W. Oortveld et al.
PLOS GENETICS (2013)
Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
Juliane Hoyer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability
Tjitske Kleefstra et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Anita Rauch et al.
LANCET (2012)
Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission
Sung Han et al.
NATURE (2012)
Fiji: an open-source platform for biological-image analysis
Johannes Schindelin et al.
NATURE METHODS (2012)
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Brian J. O'Roak et al.
SCIENCE (2012)
Age-Dependent Brain Gene Expression and Copy Number Anomalies in Autism Suggest Distinct Pathological Processes at Young Versus Mature Ages
Maggie L. Chow et al.
PLOS GENETICS (2012)
Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency
Alan F. Rope et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Genetic and Epigenetic Networks in Intellectual Disabilities
Hans van Bokhoven
ANNUAL REVIEW OF GENETICS, VOL 45 (2011)
Nav2 hypomorphic mutant mice are ataxic and exhibit abnormalities in cerebellar development
Elizabeth M. McNeill et al.
DEVELOPMENTAL BIOLOGY (2011)
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis
Ilse Feenstra et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Neuron Number and Size in Prefrontal Cortex of Children With Autism
Eric Courchesne et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2011)
The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored
Damian Szklarczyk et al.
NUCLEIC ACIDS RESEARCH (2011)
Epigenetic Regulation of Learning and Memory by Drosophila EHMT/G9a
Jamie M. Kramer et al.
PLOS BIOLOGY (2011)
De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment
Fadi F. Hamdan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Longitudinal Magnetic Resonance Imaging Study of Cortical Development through Early Childhood in Autism
Cynthia M. Schumann et al.
JOURNAL OF NEUROSCIENCE (2010)
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
Cheryl Shoubridge et al.
NATURE GENETICS (2010)
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
Sabine Endele et al.
NATURE GENETICS (2010)
The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors
Gerald D. Fischbach et al.
NEURON (2010)
Reduced Neural Habituation in the Amygdala and Social Impairments in Autism Spectrum Disorders
Natalia M. Kleinhans et al.
AMERICAN JOURNAL OF PSYCHIATRY (2009)
Human Protein Reference Database-2009 update
T. S. Keshava Prasad et al.
NUCLEIC ACIDS RESEARCH (2009)
Intellectual disability and its relationship to autism spectrum disorders
Johnny L. Matson et al.
RESEARCH IN DEVELOPMENTAL DISABILITIES (2009)
A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila
Georg Dietzl et al.
NATURE (2007)
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
Joseph D. Buxbaum et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2007)
When is the brain enlarged in autism? A meta-analysis of all brain size reports
E Redcay et al.
BIOLOGICAL PSYCHIATRY (2005)
Database resources of the National Center for Biotechnology
DL Wheeler et al.
NUCLEIC ACIDS RESEARCH (2003)
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
M Tartaglia et al.
NATURE GENETICS (2001)
The Autism Genetic Resource Exchange: A resource for the study of autism and related neuropsychiatric conditions
DH Geschwind et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Unusual brain growth patterns in early life in patients with autistic disorder - An MRI study
E Courchesne et al.
NEUROLOGY (2001)
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist
BBA de Vries et al.
JOURNAL OF MEDICAL GENETICS (2001)
分享论文
