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Research

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

  • First Published April 15, 2025
Resource

An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes

  • First Published December 5, 2024
Method

Assessing and mitigating privacy risks of sparse, noisy genotypes by local alignment to haplotype databases

  • First Published December 14, 2023
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

The hourglass model of evolutionary conservation during embryogenesis extends to developmental enhancers with signatures of positive selection

  • First Published July 15, 2021
Method

Identifying gene function and module connections by the integration of multispecies expression compendia

  • First Published November 21, 2019
Research

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

  • First Published December 13, 2017
Research

Dynamic RNA–protein interactions underlie the zebrafish maternal-to-zygotic transition

  • First Published April 5, 2017
Research

Pangolin genomes and the evolution of mammalian scales and immunity

  • First Published August 10, 2016
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