Christopher E. Mason

Assessing technical performance in differential gene expression experiments with external spike-in RNA control ratio mixtures.

Identification of tightly regulated groups of genes during Drosophila melanogaster embryogenesis.

Rapid identification of disease-causing mutations using copy number analysis within linkage intervals.

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.

Genomic analysis of estrogen cascade reveals histone variant H2A.Z associated with breast cancer progression.

Personalized genomic medicine with a patchwork, partially owned genome.

RNA-seq: an assessment of technical reproducibility and comparison with gene expression arrays.

Developmental stage and level of codon usage bias in Drosophila.

Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.

Susceptibility loci for intracranial aneurysm in European and Japanese populations.

Genomic mapping of binding regions for the Ecdysone receptor protein complex.

Functional and evolutionary insights into human brain development through global transcriptome analysis.

The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15.

Location analysis for the estrogen receptor-alpha reveals binding to diverse ERE sequences and widespread binding within repetitive DNA elements.

L-histidine decarboxylase and Tourette's syndrome.

Standardizing the next generation of bioinformatics software development with BioHDF (HDF5).

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

A genome sequence resource for the aye-aye (Daubentonia madagascariensis), a nocturnal lemur from Madagascar.

Detecting false-positive signals in exome sequencing.

Faster sequencers, larger datasets, new challenges.

Comprehensive analysis of mRNA methylation reveals enrichment in 3' UTRs and near stop codons.

Base-pair resolution DNA methylation sequencing reveals profoundly divergent epigenetic landscapes in acute myeloid leukemia.

Limitations of the human reference genome for personalized genomics.

Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis.

methylKit: a comprehensive R package for the analysis of genome-wide DNA methylation profiles.

The birth of the Epitranscriptome: deciphering the function of RNA modifications.

The non-human primate reference transcriptome resource (NHPRTR) for comparative functional genomics.

Two methods for full-length RNA sequencing for low quantities of cells and single cells.

Relapse-specific mutations in NT5C2 in childhood acute lymphoblastic leukemia.

Novel RNA regulatory mechanisms revealed in the epitranscriptome.

Pervasive sequence patents cover the entire human genome.

Induction of prolonged early G1 arrest by CDK4/CDK6 inhibition reprograms lymphoma cells for durable PI3Kδ inhibition through PIK3IP1.

An optimized algorithm for detecting and annotating regional differential methylation.

Small heat shock proteins Hspb7 and Hspb12 regulate early steps of cardiac morphogenesis.

A hybrid mechanism of action for BCL6 in B cells defined by formation of functionally distinct complexes at enhancers and promoters.

Comprehensive evaluation of differential gene expression analysis methods for RNA-seq data.

Induction of sarcomas by mutant IDH2.

Crowdfunding genomics and bioinformatics.

Identification of kinase fusion oncogenes in post-Chernobyl radiation-induced thyroid cancers.

Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo.

Characterizing multi-omic data in systems biology.

A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages.

Assessment and improvement of Indian-origin rhesus macaque and Mauritian-origin cynomolgus macaque genome annotations using deep transcriptome sequencing data.

The pivotal regulatory landscape of RNA modifications.

Cell-cycle reprogramming for PI3K inhibition overrides a relapse-specific C481S BTK mutation revealed by longitudinal functional genomics in mantle cell lymphoma.

Multi-platform assessment of transcriptome profiling using RNA-seq in the ABRF next-generation sequencing study.

Detecting and correcting systematic variation in large-scale RNA sequencing data.

Dynamic evolution of clonal epialleles revealed by methclone.

Enabling large-scale next-generation sequence assembly with Blacklight.

Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR).

genomation: a toolkit to summarize, annotate and visualize genomic intervals.

DNA hydroxymethylation profiling reveals that WT1 mutations result in loss of TET2 function in acute myeloid leukemia.

An integrative computational approach for prioritization of genomic variants.

Comparative exomics of Phalaris cultivars under salt stress.

MiR-29a maintains mouse hematopoietic stem cell self-renewal by regulating Dnmt3a.