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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
Method

Accurate sequencing of DNA motifs able to form alternative (non-B) structures

  • First Published July 11, 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

Selection and thermostability suggest G-quadruplexes are novel functional elements of the human genome

  • First Published June 29, 2021
Research

Long-read sequencing technology indicates genome-wide effects of non-B DNA on polymerization speed and error rate

  • First Published November 6, 2018
Research

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

  • First Published December 13, 2017
Corrigendum

Corrigendum: A genome-wide analysis of common fragile sites: What features determine chromosomal instability in the human genome?

  • First Published October 3, 2016
Research

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

  • First Published January 11, 2016
Research

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

  • First Published April 27, 2015
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