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C. Thomas Caskey (1938–2022)

  • First Published February 17, 2022

Deborah A. Nickerson (1954 –2021)

  • First Published January 24, 2022

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

  • First Published November 15, 2021

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

  • First Published July 20, 2021

Genomic contributions to Mendelian disease

  • First Published May 2, 2011

Human embryonic stem cells have a unique epigenetic signature

  • First Published August 9, 2006

On the probability that a novel variant is a disease-causing mutation

  • First Published June 17, 2005

Haplotype and Missing Data Inference in Nuclear Families

  • First Published July 15, 2004

The Human MitoChip: A High-Throughput Sequencing Microarray for Mitochondrial Mutation Detection

  • First Published May 3, 2004
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