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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

Interspecies regulatory landscapes and elements revealed by novel joint systematic integration of human and mouse blood cell epigenomes

  • Guanjue Xiang
  • Xi He
  • Belinda M. Giardine
  • Kathryn J. Isaac
  • Dylan J. Taylor
  • Rajiv C. McCoy Camden Jansen Cheryl A. Keller Alexander Q. Wixom April Cockburn Amber Miller Qian Qi Yanghua He Yichao Li Jens Lichtenberg Elisabeth F. Heuston Stacie M. Anderson Jing Luan Marit W. Vermunt Feng Yue Michael E.G. Sauria Michael C. Schatz James Taylor Berthold Göttgens Jim R. Hughes Douglas R. Higgs Mitchell J. Weiss Yong Cheng Gerd A. Blobel David M. Bodine
  • ... [+25 authors] ...,
  • Yu Zhang
  • Qunhua Li
  • Shaun Mahony
  • Ross C. Hardison
  • First Published July 1, 2024
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

Domain-adaptive neural networks improve cross-species prediction of transcription factor binding

  • Kelly Cochran
  • Divyanshi Srivastava
  • Avanti Shrikumar
  • Akshay Balsubramani
  • Ross C. Hardison
  • Anshul Kundaje
  • Shaun Mahony
  • First Published January 18, 2022
Resource

An integrative view of the regulatory and transcriptional landscapes in mouse hematopoiesis

  • Guanjue Xiang
  • Cheryl A. Keller
  • Elisabeth Heuston
  • Belinda M. Giardine
  • Lin An
  • Alexander Q. Wixom Amber Miller April Cockburn Michael E.G. Sauria Kathryn Weaver Jens Lichtenberg Berthold Göttgens Qunhua Li David Bodine Shaun Mahony James Taylor Gerd A. Blobel Mitchell J. Weiss Yong Cheng Feng Yue
  • ... [+15 authors] ...,
  • Jim Hughes
  • Douglas R. Higgs
  • Yu Zhang
  • Ross C. Hardison
  • First Published March 4, 2020
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

HiCRep: assessing the reproducibility of Hi-C data using a stratum-adjusted correlation coefficient

  • Tao Yang
  • Feipeng Zhang
  • Galip Gürkan Yardımcı
  • Fan Song
  • Ross C. Hardison
  • William Stafford Noble
  • Feng Yue
  • Qunhua Li
  • First Published August 30, 2017
Research

Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young

  • D. Nicole R. Methner
  • Steven E. Scherer
  • Katherine Welch
  • Magdalena Walkiewicz
  • Christine M. Eng
  • John W. Belmont Mark C. Powell Viktoriya Korchina Harsha Vardhan Doddapaneni Donna M. Muzny
  • ... [+5 authors] ...,
  • Richard A. Gibbs
  • Dwayne A. Wolf
  • Luis A. Sanchez
  • Roger Kahn
  • First Published July 19, 2016
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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