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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
Resource

Inversion variants in human and primate genomes

  • First Published May 18, 2018
Resource

Chlorocebus aethiops sabaeus)" > The genome of the vervet (Chlorocebus aethiops sabaeus)

  • First Published September 16, 2015
Resource

A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons

  • First Published August 14, 2012
Insight/Outlook

Genomic contributions to Mendelian disease

  • First Published May 2, 2011
LETTER

Human embryonic stem cells have a unique epigenetic signature

  • First Published August 9, 2006
Methods

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

  • First Published June 17, 2005
Methods

Haplotype and Missing Data Inference in Nuclear Families

  • First Published July 15, 2004
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