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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

Estrogen-induced chromatin looping changes identify a subset of functional regulatory elements

  • First Published March 3, 2025

Haig H. Kazazian, Jr. (1937–2022)

  • First Published March 21, 2022

FFPEcap-seq: a method for sequencing capped RNAs in formalin-fixed paraffin-embedded samples

  • First Published October 24, 2019

Estrogen-independent molecular actions of mutant estrogen receptor 1 in endometrial cancer

  • First Published July 30, 2019

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

  • First Published December 13, 2017

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

  • First Published January 11, 2016

Promoter-distal RNA polymerase II binding discriminates active from inactive CCAAT/ enhancer-binding protein beta binding sites

  • First Published October 20, 2015

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

  • First Published April 27, 2015
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