Search Results - (Author, Cooperation:S. M. Purcell)
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1M. A. Rivas ; M. Pirinen ; D. F. Conrad ; M. Lek ; E. K. Tsang ; K. J. Karczewski ; J. B. Maller ; K. R. Kukurba ; D. S. DeLuca ; M. Fromer ; P. G. Ferreira ; K. S. Smith ; R. Zhang ; F. Zhao ; E. Banks ; R. Poplin ; D. M. Ruderfer ; S. M. Purcell ; T. Tukiainen ; E. V. Minikel ; P. D. Stenson ; D. N. Cooper ; K. H. Huang ; T. J. Sullivan ; J. Nedzel ; C. D. Bustamante ; J. B. Li ; M. J. Daly ; R. Guigo ; P. Donnelly ; K. Ardlie ; M. Sammeth ; E. T. Dermitzakis ; M. I. McCarthy ; S. B. Montgomery ; T. Lappalainen ; D. G. MacArthur
American Association for the Advancement of Science (AAAS)
Published 2015Staff ViewPublication Date: 2015-05-09Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Alternative Splicing ; Gene Expression Profiling ; *Gene Expression Regulation ; Gene Silencing ; *Genetic Variation ; Genome, Human/*genetics ; Heterozygote ; Humans ; Nonsense Mediated mRNA Decay ; Phenotype ; Proteins/*genetics ; *TranscriptomePublished by: -
2S. M. Purcell ; J. L. Moran ; M. Fromer ; D. Ruderfer ; N. Solovieff ; P. Roussos ; C. O'Dushlaine ; K. Chambert ; S. E. Bergen ; A. Kahler ; L. Duncan ; E. Stahl ; G. Genovese ; E. Fernandez ; M. O. Collins ; N. H. Komiyama ; J. S. Choudhary ; P. K. Magnusson ; E. Banks ; K. Shakir ; K. Garimella ; T. Fennell ; M. DePristo ; S. G. Grant ; S. J. Haggarty ; S. Gabriel ; E. M. Scolnick ; E. S. Lander ; C. M. Hultman ; P. F. Sullivan ; S. A. McCarroll ; P. Sklar
Nature Publishing Group (NPG)
Published 2014Staff ViewPublication Date: 2014-01-28Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Autistic Disorder/genetics ; Calcium Channels/genetics ; Cytoskeletal Proteins/genetics ; DNA Copy Number Variations/genetics ; Female ; Fragile X Mental Retardation Protein/metabolism ; Genome-Wide Association Study ; Humans ; Intellectual Disability/genetics ; Intracellular Signaling Peptides and Proteins/genetics ; Male ; Membrane Proteins/genetics ; Multifactorial Inheritance/*genetics ; Mutation/*genetics ; Nerve Tissue Proteins/genetics ; Receptors, N-Methyl-D-Aspartate/genetics ; Schizophrenia/*geneticsPublished by: -
3M. Fromer ; A. J. Pocklington ; D. H. Kavanagh ; H. J. Williams ; S. Dwyer ; P. Gormley ; L. Georgieva ; E. Rees ; P. Palta ; D. M. Ruderfer ; N. Carrera ; I. Humphreys ; J. S. Johnson ; P. Roussos ; D. D. Barker ; E. Banks ; V. Milanova ; S. G. Grant ; E. Hannon ; S. A. Rose ; K. Chambert ; M. Mahajan ; E. M. Scolnick ; J. L. Moran ; G. Kirov ; A. Palotie ; S. A. McCarroll ; P. Holmans ; P. Sklar ; M. J. Owen ; S. M. Purcell ; M. C. O'Donovan
Nature Publishing Group (NPG)
Published 2014Staff ViewPublication Date: 2014-01-28Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Child Development Disorders, Pervasive/genetics ; Cytoskeletal Proteins/metabolism ; Exome/genetics ; Fragile X Mental Retardation Protein/metabolism ; Humans ; Intellectual Disability/genetics ; *Models, Neurological ; Mutation/*genetics ; Mutation Rate ; Nerve Net/*metabolism/physiopathology ; Nerve Tissue Proteins/metabolism ; Neural Pathways/*metabolism/physiopathology ; Phenotype ; RNA, Messenger/genetics/metabolism ; Receptors, N-Methyl-D-Aspartate/metabolism ; Schizophrenia/*genetics/metabolism/*physiopathology ; Substrate Specificity ; Synapses/*metabolismPublished by: