Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability

Identification of a MicroRNA that Activates Gene Expression by Repressing Nonsense-Mediated RNA Decay

(2011) Ivone G. Bruno et al.   MOLECULAR CELL

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

The nonsense-mediated decay pathway maintains synapse architecture and synaptic vesicle cycle efficacy

(2010) A. A. Long et al.   JOURNAL OF CELL SCIENCE

A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders

(2010) A M Addington et al.   MOLECULAR PSYCHIATRY

A population-specific HTR2B stop codon predisposes to severe impulsivity

(2010) Laura Bevilacqua et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The exon junction complex component Magoh controls brain size by regulating neural stem cell division

(2010) Debra L Silver et al.   NATURE NEUROSCIENCE

Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11–q13

(2010) Stormy J. Chamberlain et al.   NEUROBIOLOGY OF DISEASE

Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors

(2009) Pamela Nicholson et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Loss of the imprinted snoRNA mbii-52 leads to increased 5htr2c pre-RNA editing and altered 5HT2CR-mediated behaviour

(2009) Christine M. Doe et al.   HUMAN MOLECULAR GENETICS

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

(2009) F Laumonnier et al.   MOLECULAR PSYCHIATRY

Coordination of Rho GTPase activities during cell protrusion

(2009) Matthias Machacek et al.   NATURE

mRNA-Seq whole-transcriptome analysis of a single cell

(2009) Fuchou Tang et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

A UPF3-mediated regulatory switch that maintains RNA surveillance

(2009) Wai-Kin Chan et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Molecular Basis of Filamin A-FilGAP Interaction and Its Impairment in Congenital Disorders Associated with Filamin A Mutations

(2009) Fumihiko Nakamura et al.   PLoS One

The balance of reproducibility, sensitivity, and specificity of lists of differentially expressed genes in microarray studies

(2008) Leming Shi et al.   BMC BIOINFORMATICS

Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways

(2008) Pavel V Ivanov et al.   EMBO JOURNAL

NMD is essential for hematopoietic stem and progenitor cells and for eliminating by-products of programmed DNA rearrangements

(2008) J. Weischenfeldt et al.   GENES & DEVELOPMENT

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

(2008) Melissa B. Ramocki et al.   NATURE

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

(2008) Trilochan Sahoo et al.   NATURE GENETICS

Mapping and quantifying mammalian transcriptomes by RNA-Seq

(2008) Ali Mortazavi et al.   NATURE METHODS

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

(2008) Sharon J. Diskin et al.   NUCLEIC ACIDS RESEARCH

A Competition between Stimulators and Antagonists of Upf Complex Recruitment Governs Human Nonsense-Mediated mRNA Decay

(2008) Guramrit Singh et al.   PLOS BIOLOGY