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Research

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

  • First Published April 15, 2025
Research

Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain

  • First Published September 25, 2024
Research

Pathogenic variants in CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors

  • First Published February 14, 2024
Research

Functional characterization of enhancer activity during a long terminal repeat's evolution

  • First Published October 3, 2022
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
Research

Genomic environments scale the activities of diverse core promoters

  • First Published December 27, 2021
Research

Local sequence features that influence AP-1 cis-regulatory activity

  • First Published January 5, 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
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