Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster
暂无分享,去创建一个
S. Girirajan | J. Badano | Qingyu Wang | Arjun Krishnan | J. Manak | M. Rolls | Mayanglambam Dhruba Singh | Matthew Jensen | Emily Huber | Lucilla Pizzo | Sneha Yennawar | Janani Iyer | P. Patel | Haley Koerselman | Paola Lepanto | Komal Vadodaria | Abigail Talbert | Alexis T. Weiner | Alexis Kubina
[1] M. Sur,et al. Major Vault Protein, a Candidate Gene in 16p11.2 Microdeletion Syndrome, Is Required for the Homeostatic Regulation of Visual Cortical Plasticity , 2018, The Journal of Neuroscience.
[2] D. Lamb,et al. 16p11.2 transcription factor MAZ is a dosage-sensitive regulator of genitourinary development , 2018, Proceedings of the National Academy of Sciences.
[3] Michelle K. Cahill,et al. Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder. , 2017, Cell reports.
[4] Summer B. Thyme,et al. Kctd13 deletion reduces synaptic transmission via increased RhoA , 2017, Nature.
[5] S. Kunes,et al. Analysis of axonal trafficking via a novel live-imaging technique reveals distinct hedgehog transport kinetics , 2017, Biology Open.
[6] Carol Y. B. Liu,et al. Chd8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling , 2016, Nature Neuroscience.
[7] J. Robert Manak,et al. Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans , 2016, Annals of clinical and translational neurology.
[8] Chandra L. Theesfeld,et al. Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder , 2016, Nature Neuroscience.
[9] S. Scherer,et al. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes , 2016, Molecular Psychiatry.
[10] D. Geschwind,et al. Altered proliferation and networks in neural cells derived from idiopathic autistic individuals , 2016, Molecular Psychiatry.
[11] C. Ernst. Proliferation and Differentiation Deficits are a Major Convergence Point for Neurodevelopmental Disorders , 2016, Trends in Neurosciences.
[12] Wolf-Dietrich Heyer,et al. Autism and Cancer Share Risk Genes, Pathways, and Drug Targets. , 2016, Trends in genetics : TIG.
[13] Bonnie Nijhof,et al. A New Fiji-Based Algorithm That Systematically Quantifies Nine Synaptic Parameters Provides Insights into Drosophila NMJ Morphometry , 2016, PLoS Comput. Biol..
[14] T. Mackay,et al. Epistatic partners of neurogenic genes modulate Drosophila olfactory behavior , 2016, Genes, brain, and behavior.
[15] G. Mardon,et al. Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster , 2016, G3: Genes, Genomes, Genetics.
[16] C. Webber,et al. Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules. , 2016, American journal of human genetics.
[17] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[18] L. Partridge,et al. The Ras-Erk-ETS-Signaling Pathway Is a Drug Target for Longevity , 2015, Cell.
[19] T. Mackay,et al. Genetic architecture of natural variation in Drosophila melanogaster aggressive behavior , 2015, Proceedings of the National Academy of Sciences.
[20] Caleb Webber,et al. The clustering of functionally related genes contributes to CNV-mediated disease , 2015, Genome research.
[21] Daniel S. Himmelstein,et al. Understanding multicellular function and disease with human tissue-specific networks , 2015, Nature Genetics.
[22] C. Webber,et al. Synergistic Interactions between Drosophila Orthologues of Genes Spanned by De Novo Human CNVs Support Multiple-Hit Models of Autism , 2015, PLoS genetics.
[23] Joseph Vithayathil,et al. The 16p11.2 Deletion Mouse Model of Autism Exhibits Altered Cortical Progenitor Proliferation and Brain Cytoarchitecture Linked to the ERK MAPK Pathway , 2015, The Journal of Neuroscience.
[24] Michael F. Wangler,et al. Fruit Flies in Biomedical Research , 2015, Genetics.
[25] Boris Yamrom,et al. The contribution of de novo coding mutations to autism spectrum disorder , 2014, Nature.
[26] Paul Theodor Pyl,et al. HTSeq—a Python framework to work with high-throughput sequencing data , 2014, bioRxiv.
[27] K. Roeder,et al. Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. , 2014, American journal of human genetics.
[28] L. Vissers,et al. Genome sequencing identifies major causes of severe intellectual disability , 2014, Nature.
[29] M. Meyerson,et al. Oncogenic and sorafenib-sensitive ARAF mutations in lung adenocarcinoma. , 2014, The Journal of clinical investigation.
[30] Björn Usadel,et al. Trimmomatic: a flexible trimmer for Illumina sequence data , 2014, Bioinform..
[31] C. Kyriacou,et al. A Drosophila RNAi collection is subject to dominant phenotypic effects , 2014, Nature Methods.
[32] E. Banks,et al. De novo mutations in schizophrenia implicate synaptic networks , 2014, Nature.
[33] T. Mackay. Epistasis and quantitative traits: using model organisms to study gene–gene interactions , 2013, Nature Reviews Genetics.
[34] Michael R. Johnson,et al. De novo mutations in the classic epileptic encephalopathies , 2013, Nature.
[35] D. Goldstein,et al. Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes , 2013, PLoS genetics.
[36] Cole Trapnell,et al. TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions , 2013, Genome Biology.
[37] Donna M. Martin,et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. , 2012, The New England journal of medicine.
[38] Allison G. Dempsey,et al. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders , 2012, Journal of Medical Genetics.
[39] Kevin W Eliceiri,et al. NIH Image to ImageJ: 25 years of image analysis , 2012, Nature Methods.
[40] H. Sive,et al. Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes , 2012, Disease Models & Mechanisms.
[41] F. Pichaud,et al. Orthodenticle and Kruppel homolog 1 regulate Drosophila photoreceptor maturation , 2012, Proceedings of the National Academy of Sciences.
[42] K. Broadie,et al. Drosophila modeling of heritable neurodevelopmental disorders , 2011, Current Opinion in Neurobiology.
[43] P. Penzes,et al. Dendritic spine pathology in neuropsychiatric disorders , 2011, Nature Neuroscience.
[44] D. Hadjieconomou,et al. A step-by-step guide to visual circuit assembly in Drosophila , 2011, Current Opinion in Neurobiology.
[45] Mark J. Harris,et al. Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication , 2010, Molecular autism.
[46] E. Eichler,et al. Phenotypic variability and genetic susceptibility to genomic disorders. , 2010, Human molecular genetics.
[47] Gary D Bader,et al. Functional impact of global rare copy number variation in autism spectrum disorders , 2010, Nature.
[48] Gary D. Bader,et al. The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function , 2010, Nucleic Acids Res..
[49] Ulrich Stephani,et al. Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies , 2010, PLoS genetics.
[50] B. Pober. Williams-Beuren syndrome. , 2010, The New England journal of medicine.
[51] P. Elliott,et al. A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2 , 2009, Nature.
[52] Walter Kolch,et al. Cell fate decisions are specified by the dynamic ERK interactome , 2009, Nature Cell Biology.
[53] Mark D. Robinson,et al. edgeR: a Bioconductor package for differential expression analysis of digital gene expression data , 2009, Bioinform..
[54] Takeshi Sakurai,et al. The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders , 2009, Trends in Neurosciences.
[55] J. Schuurs-Hoeijmakers,et al. Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. , 2009, European journal of medical genetics.
[56] Wei Zhang,et al. Pharmacological Inhibition of mTORC1 Suppresses Anatomical, Cellular, and Behavioral Abnormalities in Neural-Specific Pten Knock-Out Mice , 2009, The Journal of Neuroscience.
[57] D. Conrad,et al. Recurrent 16p11.2 microdeletions in autism. , 2007, Human molecular genetics.
[58] Nancy M Bonini,et al. Genome-Wide Screen for Modifiers of Ataxin-3 Neurodegeneration in Drosophila , 2007, PLoS genetics.
[59] B. Dickson,et al. A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila , 2007, Nature.
[60] D. Kent,et al. Roadkill attenuates Hedgehog responses through degradation of Cubitus interruptus , 2006, Development.
[61] Seon-Young Kim,et al. PAGE: Parametric Analysis of Gene Set Enrichment , 2005, BMC Bioinform..
[62] K. Anderson,et al. FKBP8 is a negative regulator of mouse sonic hedgehog signaling in neural tissues , 2004, Development.
[63] C. Vlangos,et al. Mutations in RAI1 associated with Smith–Magenis syndrome , 2003, Nature Genetics.
[64] Yuh Nung Jan,et al. Tiling of the Drosophila epidermis by multidendritic sensory neurons. , 2002, Development.
[65] Hua He,et al. A tumor necrosis factor α- and interleukin 6-inducible protein that interacts with the small subunit of DNA polymerase δ and proliferating cell nuclear antigen , 2001, Proceedings of the National Academy of Sciences of the United States of America.
[66] P. Scambler,et al. Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice , 2001, Nature.
[67] E. Hafen,et al. PTEN affects cell size, cell proliferation and apoptosis during Drosophila eye development. , 1999, Development.
[68] D. Wassarman,et al. A fly's eye view of biology. , 1999, Trends in genetics : TIG.
[69] Yaoguang Liu,et al. Thermal asymmetric interlaced PCR: automatable amplification and sequencing of insert end fragments from P1 and YAC clones for chromosome walking. , 1995, Genomics.
[70] De novo mutations in epileptic encephalopathies , 2013 .
[71] T. P. Neufeld,et al. A genetic screen to identify components of the sina signaling pathway in Drosophila eye development. , 1998, Genetics.