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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

Precision environmental health monitoring by longitudinal exposome and multi-omics profiling

  • First Published June 6, 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

Metagenomic analysis with strain-level resolution reveals fine-scale variation in the human pregnancy microbiome

  • First Published September 19, 2018
Method

Genome-reconstruction for eukaryotes from complex natural microbial communities

  • First Published March 1, 2018
Research

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

  • First Published December 13, 2017
Method

Microfluidic isoform sequencing shows widespread splicing coordination in the human transcriptome

  • First Published December 1, 2017
Research

Identical bacterial populations colonize premature infant gut, skin, and oral microbiomes and exhibit different in situ growth rates

  • First Published January 10, 2017
Research

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

  • First Published January 11, 2016
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