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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
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
Research

Coexpression enrichment analysis at the single-cell level reveals convergent defects in neural progenitor cells and their cell-type transitions in neurodevelopmental disorders

  • Kaifang Pang
  • Li Wang
  • Wei Wang
  • Jian Zhou
  • Chao Cheng
  • Kihoon Han
  • Huda Y. Zoghbi
  • Zhandong Liu
  • First Published June 18, 2020
Research

Sequence determinants of polyadenylation-mediated regulation

  • Ilya Vainberg Slutskin
  • Adina Weinberger
  • Eran Segal
  • First Published September 17, 2019
Research

Systematic interrogation of human promoters

  • Shira Weingarten-Gabbay
  • Ronit Nir
  • Shai Lubliner
  • Eilon Sharon
  • Yael Kalma
  • Adina Weinberger
  • Eran Segal
  • First Published January 8, 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
Corrigendum

Corrigendum: Large-scale mapping of gene regulatory logic reveals context-dependent repression by transcriptional activators

  • David van Dijk
  • Eilon Sharon
  • Maya Lotan-Pompan
  • Adina Weinberger
  • Eran Segal
  • Lucas B. Carey
  • First Published March 1, 2017
Research

Critical threshold levels of DNA methyltransferase 1 are required to maintain DNA methylation across the genome in human cancer cells

  • Yi Cai
  • Hsing-Chen Tsai
  • Ray-Whay Chiu Yen
  • Yang W. Zhang
  • Xiangqian Kong
  • Wei Wang
  • Limin Xia
  • Stephen B. Baylin
  • First Published February 23, 2017
Research

Large-scale mapping of gene regulatory logic reveals context-dependent repression by transcriptional activators

  • David van Dijk
  • Eilon Sharon
  • Maya Lotan-Pompan
  • Adina Weinberger
  • Eran Segal
  • Lucas B. Carey
  • First Published December 13, 2016
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