Publications

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. Regional collapsing of rare variation implicates specific genic regions in ALS. bioRxiv, 2018.

Preprint Project

. The role of DNA methylation in renal cell carcinoma. Molecular Diagnosis & Therapy (Invited Review), 2018.

PDF Project

. Genome-wide analyses identify KIF5A as a novel ALS gene. Neuron, 2018.

PDF Project

. Post-mortem molecular profiling of three psychiatric disorders. Genome Medicine, 2017.

Preprint PDF Dataset Project Poster

. aRNApipe: a balanced, efficient and distributed pipeline for processing RNA-seq data in high-performance computing environments. Bioinformatics, 2017.

Preprint PDF Code Project

. Genome-wide DNA methylation measurements in prostate tissues uncovers novel prostate cancer diagnostic biomarkers and transcription factor binding patterns. BMC Cancer, 2017.

PDF Dataset Project

. Genomic regulation of invasion by STAT3 in triple negative breast cancer. Oncotarget, 2017.

PDF Dataset Project

. Kinase gene expression profiling of metastatic clear cell renal cell carcinoma tissue identifies potential new therapeutic targets. PLoS One, 2016.

PDF Dataset Project

. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science, 2015.

PDF Project Slides

. DNA methylation profiling reveals novel diagnostic biomarkers in renal cell carcinoma. BMC Medicine, 2014.

PDF Project Poster Slides