Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

(2012) Jill A Rosenfeld et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Comparative Analysis of Different Label-Free Mass Spectrometry Based Protein Abundance Estimates and Their Correlation with RNA-Seq Gene Expression Data

(2012) Kang Ning et al.   JOURNAL OF PROTEOME RESEARCH

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

(2012) Cornelis A Albers et al.   NATURE GENETICS

RNA Homeostasis Governed by Cell Type-Specific and Branched Feedback Loops Acting on NMD

(2011) Lulu Huang et al.   MOLECULAR CELL

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

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

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Autoregulation of the nonsense-mediated mRNA decay pathway in human cells

(2011) H. Yepiskoposyan et al.   RNA

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

(2010) Angela L Duker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

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

(2010) Debra L Silver et al.   NATURE NEUROSCIENCE

Heritability in the Efficiency of Nonsense-Mediated mRNA Decay in Humans

(2010) Cathal Seoighe et al.   PLoS One

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

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

(2009) BC Ballif et al.   CLINICAL GENETICS

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

(2009) Gurdeep S Sagoo et al.   GENETICS IN MEDICINE

Nonsense-Mediated mRNA Decay Effectors Are Essential for Zebrafish Embryonic Development and Survival

(2009) N. Wittkopp et al.   MOLECULAR AND CELLULAR BIOLOGY

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

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

A UPF3-mediated regulatory switch that maintains RNA surveillance

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

Long 3′-UTRs target wild-type mRNAs for nonsense-mediated mRNA decay in Saccharomyces cerevisiae

(2009) Bessie W. Kebaara et al.   NUCLEIC ACIDS RESEARCH

The genetic landscape of intellectual disability arising from chromosome X

(2009) Jozef Gécz et al.   TRENDS IN GENETICS

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

(2009) Ryan N Traylor et al.   Molecular Cytogenetics

Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues

(2008) Almoutassem B Zetoune et al.   BMC GENETICS

Structural insights into the exon junction complex

(2008) Hervé Le Hir et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

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

SMD and NMD are competitive pathways that contribute to myogenesis: effects on PAX3 and myogenin mRNAs

(2008) C. Gong et al.   GENES & DEVELOPMENT

Whole population, genome-wide mapping of hidden relatedness

(2008) A. Gusev et al.   GENOME RESEARCH

Integrated detection and population-genetic analysis of SNPs and copy number variation

(2008) Steven A McCarroll et al.   NATURE GENETICS

Mapping and quantifying mammalian transcriptomes by RNA-Seq

(2008) Ali Mortazavi et al.   NATURE METHODS

Introducing sense into nonsense in treatments of human genetic diseases

(2008) Liat Linde et al.   TRENDS IN GENETICS

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

(2008) Blake C Ballif et al.   Molecular Cytogenetics