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。NeuroD1 reprograms chromatin and transcription factor landscapes to induce the neuronal program
Abhijeet Pataskar et al.
EMBO JOURNAL (2016)
Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23
Emma Strong et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
The Tumor Suppressor BCL7B Functions in the Wnt Signaling Pathway
Tomoko Uehara et al.
PLOS GENETICS (2015)
7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages
Antonio Adamo et al.
NATURE GENETICS (2015)
Stress granules are dispensable for mRNA stabilization during cellular stress
Nadine Bley et al.
NUCLEIC ACIDS RESEARCH (2015)
Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families
Ian Blumenthal et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Molecular Convergence of Neurodevelopmental Disorders
Elizabeth S. Chen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Dalila Pinto et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Numerous BAF Complex Genes are Mutated in Coffin-Siris Syndrome
Noriko Miyake et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2014)
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
Raphael Bernier et al.
CELL (2014)
Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits
Carmela Fusco et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder
Maria Segura-Puimedon et al.
HUMAN MOLECULAR GENETICS (2014)
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis et al.
NATURE (2014)
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
Celine Helsmoortel et al.
NATURE GENETICS (2014)
Overlapping chromatin-remodeling systems collaborate genome wide at dynamic chromatin transitions
Stephanie A. Morris et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2014)
CORTECON: A Temporal Transcriptome Analysis of In Vitro Human Cerebral Cortex Development from Human Embryonic Stem Cells
Joyce van de Leemput et al.
NEURON (2014)
Discovery of functional genomic motifs in viruses with ViReMa-a Virus Recombination Mapper-for analysis of next-generation sequencing data
Andrew Routh et al.
NUCLEIC ACIDS RESEARCH (2014)
Composition of isolated synaptic boutons reveals the amounts of vesicle trafficking proteins
Benjamin G. Wilhelm et al.
SCIENCE (2014)
Snf2h-mediated chromatin organization and histone H1 dynamics govern cerebellar morphogenesis and neural maturation
Matias Alvarez-Saavedra et al.
NATURE COMMUNICATIONS (2014)
Overproduction of Upper-Layer Neurons in the Neocortex Leads to Autism-like Features in Mice
Wei-Qun Fang et al.
CELL REPORTS (2014)
Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1
Noelle D. Germain et al.
MOLECULAR AUTISM (2014)
Clinical Correlations of Mutations Affecting Six Components of the SWI/SNF Complex: Detailed Description of 21 Patients and a Review of the Literature
Tomoki Kosho et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Loss of WSTF results in spontaneous fluctuations of heterochromatin formation and resolution, combined with substantial changes to gene expression
Ashley E. Culver-Cochran et al.
BMC GENOMICS (2013)
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
Gijs W. E. Santen et al.
HUMAN MUTATION (2013)
The neuron-specific chromatin regulatory subunit BAF53b is necessary for synaptic plasticity and memory
Annie Vogel-Ciernia et al.
NATURE NEUROSCIENCE (2013)
Rapid Single-Step Induction of Functional Neurons from Human Pluripotent Stem Cells
Yingsha Zhang et al.
NEURON (2013)
Interpreting genomic data via entropic dissection
Rajeev K. Azad et al.
NUCLEIC ACIDS RESEARCH (2013)
Modeling and Rescue of the Vascular Phenotype of Williams-Beuren Syndrome in Patient Induced Pluripotent Stem Cells
Caroline Kinnear et al.
STEM CELLS TRANSLATIONAL MEDICINE (2013)
Duplication of GTF2I Results in Separation Anxiety in Mice and Humans
Carolyn B. Mervis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
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)
Pharmacogenomics Knowledge for Personalized Medicine
M. Whirl-Carrillo et al.
CLINICAL PHARMACOLOGY & THERAPEUTICS (2012)
ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia
Stephen G. Landt et al.
GENOME RESEARCH (2012)
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Benjamin M. Neale et al.
NATURE (2012)
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Brian J. O'Roak et al.
NATURE (2012)
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
Jeroen K. J. Van Houdt et al.
NATURE GENETICS (2012)
Fast gapped-read alignment with Bowtie 2
Ben Langmead et al.
NATURE METHODS (2012)
Social cognition in Williams syndrome: genotype/phenotype insights from partial deletion patients
Annette Karmiloff-Smith et al.
FRONTIERS IN PSYCHOLOGY (2012)
Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders
Patrick Malenfant et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2012)
Haploinsufficiency of Gtf2i, a Gene Deleted in Williams Syndrome, Leads to Increases in Social Interactions
Takeshi Sakurai et al.
AUTISM RESEARCH (2011)
WSTF does it all: a multifunctional protein in transcription, repair, and replication
Chris Barnett et al.
BIOCHEMISTRY AND CELL BIOLOGY (2011)
Control of bone formation by the serpentine receptor Frizzled-9
Joachim Albers et al.
JOURNAL OF CELL BIOLOGY (2011)
Spatio-temporal transcriptome of the human brain
Hyo Jung Kang et al.
NATURE (2011)
Global Analysis of Gene Expression in the Developing Brain of Gtf2ird1 Knockout Mice
Jennifer O'Leary et al.
PLOS ONE (2011)
Animal Models of Williams Syndrome
Lucy R. Osborne
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2010)
‘Puppet’ Children A Report on Three Cases
Harry Angelman
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile
A. Antonell et al.
JOURNAL OF MEDICAL GENETICS (2010)
A general lack of compensation for gene dosage in yeast
Michael Springer et al.
MOLECULAR SYSTEMS BIOLOGY (2010)
Intelligence in Williams Syndrome Is Related to STX1A, Which Encodes a Component of the Presynaptic SNARE Complex
Michael C. Gao et al.
PLOS ONE (2010)
Characterising and Predicting Haploinsufficiency in the Human Genome
Ni Huang et al.
PLOS GENETICS (2010)
Cdk4/CyclinD1 Overexpression in Neural Stem Cells Shortens G1, Delays Neurogenesis, and Promotes the Generation and Expansion of Basal Progenitors
Christian Lange et al.
CELL STEM CELL (2009)
Tankyrase inhibition stabilizes axin and antagonizes Wnt signalling
Shih-Min A. Huang et al.
NATURE (2009)
AutDB: a gene reference resource for autism research
Saumyendra N. Basu et al.
NUCLEIC ACIDS RESEARCH (2009)
Disease-specific induced pluripotent stem cells
In-Hyun Park et al.
CELL (2008)
Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons
John T. Dimos et al.
SCIENCE (2008)
A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development
Alyson Ashe et al.
GENOME BIOLOGY (2008)
Model-based Analysis of ChIP-Seq (MACS)
Yong Zhang et al.
GENOME BIOLOGY (2008)
Induction of pluripotent stem cells from adult human fibroblasts by defined factors
Kazutoshi Takahashi et al.
CELL (2007)
Regulation of dendritic development by NeuronSpecific chromatin remodeling complexes
Jiang I. Wu et al.
NEURON (2007)
beadarray:: R classes and methods for Illumina bead-based data
Mark J. Dunning et al.
BIOINFORMATICS (2007)
An essential switch in subunit composition of a chromatin remodeling complex during neural development
Julie Lessard et al.
NEURON (2007)
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
Jonathan S. Berg et al.
GENETICS IN MEDICINE (2007)
Cell-autonomous β-catenin signaling regulates cortical precursor proliferation
Gregory J. Woodhead et al.
JOURNAL OF NEUROSCIENCE (2006)
Mapping pathways and phenotypes by systematic gene overexpression
R Sopko et al.
MOLECULAR CELL (2006)
Severe expressive-language delay related to duplication of the Williams-Beuren locus
MJ Somerville et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
Genetic contributions to human gyrification: Sulcal morphometry in Williams syndrome
JS Kippenhan et al.
JOURNAL OF NEUROSCIENCE (2005)
Abnormal cortical complexity and thickness profiles mapped in Williams syndrome
PM Thompson et al.
JOURNAL OF NEUROSCIENCE (2005)
Post-natal size and morphology of the sella turcica in Williams syndrome
S Axelsson et al.
EUROPEAN JOURNAL OF ORTHODONTICS (2004)
The Wnt/β-catenin pathway directs neuronal differentiation of cortical neural precursor cells
Y Hirabayashi et al.
DEVELOPMENT (2004)
GTF21 hemizygosity implicated in mental retardation in Williams syndrome: Genotype-phenotype analysis of five families with deletions in the Williams syndrome region
CA Morris et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome -: art. no. e99
R Heller et al.
JOURNAL OF MEDICAL GENETICS (2003)
Mutational mechanisms of Williams-Beuren syndrome deletions
M Bayés et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF21 on Chromosome 7q11.23
H Hirota et al.
GENETICS IN MEDICINE (2003)
β-catenin signals regulate cell growth and the balance between progenitor cell expansion and differentiation in the nervous system
D Zechner et al.
DEVELOPMENTAL BIOLOGY (2003)
Regulation of cerebral cortical size by control of cell cycle exit in neural precursors
A Chenn et al.
SCIENCE (2002)
The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome
HC Duba et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2002)
Cloning and characterization of the murine Imitation Switch (ISWI) genes:: differential expression patterns suggest distinct developmental roles for Snf2h and Snf21
MA Lazzaro et al.
JOURNAL OF NEUROCHEMISTRY (2001)
Error and attack tolerance of complex networks
R Albert et al.
NATURE (2000)
Neuroanatomy of Williams syndrome: A high-resolution MRI study
AL Reiss et al.
JOURNAL OF COGNITIVE NEUROSCIENCE (2000)
KEGG: Kyoto Encyclopedia of Genes and Genomes
M Kanehisa et al.
NUCLEIC ACIDS RESEARCH (2000)
Genome structure and cognitive map of Williams syndrome
JR Korenberg et al.
JOURNAL OF COGNITIVE NEUROSCIENCE (2000)
分享论文
