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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
Resource

Precision environmental health monitoring by longitudinal exposome and multi-omics profiling

  • Peng Gao
  • Xiaotao Shen
  • Xinyue Zhang
  • Chao Jiang
  • Sai Zhang
  • Xin Zhou
  • Sophia Miryam Schüssler-Fiorenza Rose
  • Michael Snyder
  • First Published June 6, 2022
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

Systematic evaluation of the effect of polyadenylation signal variants on the expression of disease-associated genes

  • Meng Chen
  • Ran Wei
  • Gang Wei
  • Mingqing Xu
  • Zhixi Su
  • Chen Zhao
  • Ting Ni
  • First Published April 19, 2021
Corrigendum

Corrigendum: 3′ UTR lengthening as a novel mechanism in regulating cellular senescence

  • Meng Chen
  • Guoliang Lyu
  • Miao Han
  • Hongbo Nie
  • Ting Shen
  • Wei Chen Yichi Niu Yifan Song Xueping Li Huan Li Xinyu Chen Ziyue Wang Zheng Xia Wei Li Xiao-Li Tian Chen Ding Jun Gu Yufang Zheng Xinhua Liu
  • ... [+14 authors] ...,
  • Jinfeng Hu
  • Gang Wei
  • Wei Tao
  • Ting Ni
  • First Published September 14, 2020
Research

3′ UTR lengthening as a novel mechanism in regulating cellular senescence

  • Meng Chen
  • Guoliang Lyu
  • Miao Han
  • Hongbo Nie
  • Ting Shen
  • Wei Chen Yichi Niu Yifan Song Xueping Li Huan Li Xinyu Chen Ziyue Wang Zheng Xia Wei Li Xiao-Li Tian Chen Ding Jun Gu Yufang Zheng Xinhua Liu
  • ... [+14 authors] ...,
  • Jinfeng Hu
  • Gang Wei
  • Wei Tao
  • Ting Ni
  • First Published February 12, 2018
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
Method

Microfluidic isoform sequencing shows widespread splicing coordination in the human transcriptome

  • Hagen Tilgner
  • Fereshteh Jahanbani
  • Ishaan Gupta
  • Paul Collier
  • Eric Wei
  • Morten Rasmussen
  • Michael Snyder
  • First Published December 1, 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
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