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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

  • Hao Zhu
  • Jiao Zhang
  • Soumya Rao
  • Matthew D. Durbin
  • Ying Li
  • Ruirui Lang Jiqiang Liu Baichuan Xiao Hailin Shan Ziqiu Meng Jinmo Wang Xiaokai Tang Zhenni Shi Liza L. Cox Shouqin Zhao Stephanie M. Ware Tiong Y. Tan Michelle de Silva Lyndon Gallacher Ting Liu Jie Mi Changqing Zeng Hou-Feng Zheng
  • ... [+18 authors] ...,
  • Qingguo Zhang
  • Stylianos E. Antonarakis
  • Timothy C. Cox
  • Yong-Biao Zhang
  • First Published April 15, 2025
Research

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

  • Hosiana Abewe
  • Alexandra Richey
  • Jeffery M. Vahrenkamp
  • Matthew Ginley-Hidinger
  • Craig M. Rush
  • Noel Kitchen
  • Xiaoyang Zhang
  • Jason Gertz
  • First Published March 3, 2025
Perspective

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

  • Stylianos E. Antonarakis
  • First Published March 31, 2022
In memoriam

Haig H. Kazazian, Jr. (1937–2022)

  • Stylianos E. Antonarakis
  • Stuart H. Orkin
  • First Published March 21, 2022
Method

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

  • Jeffery M. Vahrenkamp
  • Kathryn Szczotka
  • Mark K. Dodson
  • Elke A. Jarboe
  • Andrew P. Soisson
  • Jason Gertz
  • First Published October 24, 2019
Research

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

  • Zannel Blanchard
  • Jeffery M. Vahrenkamp
  • Kristofer C. Berrett
  • Spencer Arnesen
  • Jason Gertz
  • First Published July 30, 2019
Method

Long-read single-molecule maps of the functional methylome

  • Hila Sharim
  • Assaf Grunwald
  • Tslil Gabrieli
  • Yael Michaeli
  • Sapir Margalit
  • Dmitry Torchinsky Rani Arielly Gil Nifker Matyas Juhasz Felix Gularek Miguel Almalvez Brandon Dufault Sreetama Sen Chandra Alexander Liu Surajit Bhattacharya Yi-Wen Chen Eric Vilain Kathryn R. Wagner Jonathan Pevsner Jeff Reifenberger Ernest T. Lam Alex R. Hastie
  • ... [+17 authors] ...,
  • Han Cao
  • Hayk Barseghyan
  • Elmar Weinhold
  • Yuval Ebenstein
  • First Published March 7, 2019
Research

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

  • Konstantin Popadin
  • Stephan Peischl
  • Marco Garieri
  • M. Reza Sailani
  • Audrey Letourneau
  • Federico Santoni Samuel W. Lukowski Georgii A. Bazykin Sergey Nikolaev
  • ... [+4 authors] ...,
  • Diogo Meyer
  • Laurent Excoffier
  • Alexandre Reymond
  • Stylianos E. Antonarakis
  • First Published December 13, 2017
Research

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

  • Vladimir B. Seplyarskiy
  • Ruslan A. Soldatov
  • Konstantin Y. Popadin
  • Stylianos E. Antonarakis
  • Georgii A. Bazykin
  • Sergey I. Nikolaev
  • First Published January 11, 2016
Research

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

  • Daniel Savic
  • Brian S. Roberts
  • Julia B. Carleton
  • E. Christopher Partridge
  • Michael A. White
  • Barak A. Cohen
  • Gregory M. Cooper
  • Jason Gertz
  • Richard M. Myers
  • First Published October 20, 2015
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