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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

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

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

Stylianos E. Antonarakis

First Published March 31, 2022

Haig H. Kazazian, Jr. (1937–2022)

Stylianos E. Antonarakis
Stuart H. Orkin

First Published March 21, 2022

Inferring genes that escape X-Chromosome inactivation reveals important contribution of variable escape genes to sex-biased diseases

Renan Sauteraud
Jill M. Stahl
Jesica James
Marisa Englebright
Fang Chen
Xiaowei Zhan
Laura Carrel
Dajiang J. Liu

First Published August 23, 2021

Sequence determinants of polyadenylation-mediated regulation

Ilya Vainberg Slutskin
Adina Weinberger
Eran Segal

First Published September 17, 2019

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

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: 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

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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