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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
Method

Accurate estimation of intraspecific microbial gene content variation in metagenomic data with MIDAS v3 and StrainPGC

  • Byron J. Smith
  • Chunyu Zhao
  • Veronika Dubinkina
  • Xiaofan Jin
  • Liron Zahavi
  • Saar Shoer
  • Jacqueline Moltzau-Anderson
  • Eran Segal
  • Katherine S. Pollard
  • First Published April 10, 2025
Method

A scalable adaptive quadratic kernel method for interpretable epistasis analysis in complex traits

  • Boyang Fu
  • Prateek Anand
  • Aakarsh Anand
  • Joel Mefford
  • Sriram Sankararaman
  • First Published August 29, 2024
Method

Leveraging family data to design Mendelian randomization that is provably robust to population stratification

  • Nathan LaPierre
  • Boyang Fu
  • Steven Turnbull
  • Eleazar Eskin
  • Sriram Sankararaman
  • First Published May 17, 2023
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

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
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