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In memoriam

C. Thomas Caskey (1938–2022)

  • First Published February 17, 2022
In memoriam

Deborah A. Nickerson (1954 –2021)

  • First Published January 24, 2022
Research

RET regulatory code is disrupted in Hirschsprung disease" > A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease

  • First Published November 15, 2021
Method

Sequence-based correction of barcode bias in massively parallel reporter assays

  • First Published July 20, 2021
Method

cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants" > Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants

  • First Published August 23, 2018
Research

Yeast genetic interaction screen of human genes associated with amyotrophic lateral sclerosis: identification of MAP2K5 kinase as a potential drug target

  • First Published June 8, 2017
Method

An extended set of yeast-based functional assays accurately identifies human disease mutations

  • First Published March 14, 2016
Method

Comparison of CAGE and RNA-seq transcriptome profiling using clonally amplified and single-molecule next-generation sequencing

  • First Published March 27, 2014
Insight/Outlook

Genomic contributions to Mendelian disease

  • First Published May 2, 2011
Methods

Cross-mapping and the identification of editing sites in mature microRNAs in high-throughput sequencing libraries

  • First Published January 5, 2010
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