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Research

Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

  • First Published April 15, 2025
Perspective

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

  • First Published March 31, 2022
In memoriam

Haig H. Kazazian, Jr. (1937–2022)

  • First Published March 21, 2022
Method

Enhancing CRISPR deletion via pharmacological delay of DNA-PKcs

  • First Published February 11, 2021
Research

Ancient exapted transposable elements promote nuclear enrichment of human long noncoding RNAs

  • First Published December 26, 2018
Research

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

  • First Published December 13, 2017
Research

Transcriptional regulatory dynamics drive coordinated metabolic and neural response to social challenge in mice

  • First Published March 29, 2017
Research

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication

  • First Published January 11, 2016
Research

Evolution of selenophosphate synthetases: emergence and relocation of function through independent duplications and recurrent subfunctionalization

  • First Published July 20, 2015
Research

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

  • First Published April 27, 2015
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