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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

Vertebrates show coordinated elevated expression of mitochondrial and nuclear genes after birth

Hadar Medini
Dan Mishmar

First Published March 4, 2025

Corrigendum: Human primitive brain displays negative mitochondrial-nuclear expression correlation of respiratory genes

Gilad Barshad
Amit Blumberg
Tal Cohen
Dan Mishmar

First Published August 25, 2022

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

Corrigendum: Initiation of mtDNA transcription is followed by pausing, and diverges across human cell types and during evolution

Amit Blumberg
Edward J. Rice
Anshul Kundaje
Charles G. Danko
Dan Mishmar

First Published April 1, 2019

A common pattern of DNase I footprinting throughout the human mtDNA unveils clues for a chromatin-like organization

Amit Blumberg
Charles G. Danko
Anshul Kundaje
Dan Mishmar

First Published July 12, 2018

Human primitive brain displays negative mitochondrial-nuclear expression correlation of respiratory genes

Gilad Barshad
Amit Blumberg
Tal Cohen
Dan Mishmar

First Published June 14, 2018

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

Initiation of mtDNA transcription is followed by pausing, and diverges across human cell types and during evolution

Amit Blumberg
Edward J. Rice
Anshul Kundaje
Charles G. Danko
Dan Mishmar

First Published January 3, 2017

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