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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
Perspective

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

  • First Published March 31, 2022
Research

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

  • First Published December 13, 2017
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
Research

Extensive microRNA-mediated crosstalk between lncRNAs and mRNAs in mouse embryonic stem cells

  • First Published March 19, 2015
Research

RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts

  • First Published December 18, 2014
Research

Violation of the 12/23 rule of genomic V(D)J recombination is common in lymphocytes

  • First Published November 3, 2014
Research

Aire dependency, relief from Polycomb silencing, and distribution of self-antigen expression in thymic epithelia" > Population and single-cell genomics reveal the Aire dependency, relief from Polycomb silencing, and distribution of self-antigen expression in thymic epithelia

  • First Published September 15, 2014
Resource

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

  • First Published January 3, 2014
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