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

Genome-wide Analysis of Simultaneous GATA1/2, RUNX1, FLI1, and SCL Binding in Megakaryocytes Identifies Hematopoietic Regulators

(2011) Marloes R. Tijssen et al.   DEVELOPMENTAL CELL

The GENCODE exome: sequencing the complete human exome

(2011) Alison J Coffey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

(2011) Cornelis A Albers et al.   NATURE GENETICS

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

(2011) P. Edery et al.   SCIENCE

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

(2011) H. He et al.   SCIENCE

Maps of Open Chromatin Guide the Functional Follow-Up of Genome-Wide Association Signals: Application to Hematological Traits

(2011) Dirk S. Paul et al.   PLoS Genetics

Fast and SNP-tolerant detection of complex variants and splicing in short reads

(2010) T. D. Wu et al.   BIOINFORMATICS

Regulation of vertebrate embryogenesis by the exon junction complex core component Eif4a3

(2010) Tomomi Haremaki et al.   DEVELOPMENTAL DYNAMICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

ShortRead: a bioconductor package for input, quality assessment and exploration of high-throughput sequence data

(2009) M. Morgan et al.   BIOINFORMATICS

rtracklayer: an R package for interfacing with genome browsers

(2009) M. Lawrence et al.   BIOINFORMATICS

A HaemAtlas: characterizing gene expression in differentiated human blood cells

(2009) Nicholas A. Watkins et al.   BLOOD

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

Isolation of active regulatory elements from eukaryotic chromatin using FAIRE (Formaldehyde Assisted Isolation of Regulatory Elements)

(2009) Paul G. Giresi et al.   METHODS

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

(2009) Nicole Soranzo et al.   NATURE GENETICS

The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome

(2008) Mathieu Firmann et al.   BMC Cardiovascular Disorders

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