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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

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

Replication timing networks reveal a link between transcription regulatory circuits and replication timing control

Juan Carlos Rivera-Mulia
Sebo Kim
Haitham Gabr
Abhijit Chakraborty
Ferhat Ay
Tamer Kahveci
David M. Gilbert

First Published August 21, 2019

Research

Allele-specific control of replication timing and genome organization during development

Juan Carlos Rivera-Mulia
Andrew Dimond
Daniel Vera
Claudia Trevilla-Garcia
Takayo Sasaki
Jared Zimmerman
... [+1 authors] ...,
Catherine Dupont
Joost Gribnau
Peter Fraser
David M. Gilbert

First Published May 7, 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

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

Research

Dynamic changes in replication timing and gene expression during lineage specification of human pluripotent stem cells

Juan Carlos Rivera-Mulia
Quinton Buckley
Takayo Sasaki
Jared Zimmerman
Ruth A. Didier
Kristopher Nazor Jeanne F. Loring Zheng Lian Sherman Weissman Allan J. Robins Thomas C. Schulz Laura Menendez Michael J. Kulik
... [+8 authors] ...,
Stephen Dalton
Haitham Gabr
Tamer Kahveci
David M. Gilbert

First Published June 8, 2015

Research

Topologically associating domains and their long-range contacts are established during early G1 coincident with the establishment of the replication-timing program

Vishnu Dileep
Ferhat Ay
Jiao Sima
Daniel L. Vera
William S. Noble
David M. Gilbert

First Published May 20, 2015

Research

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

Heather Fairfield
Anuj Srivastava
Guruprasad Ananda
Rangjiao Liu
Martin Kircher
Anuradha Lakshminarayana Belinda S. Harris Son Yong Karst Louise A. Dionne Coleen C. Kane Michelle Curtain Melissa L. Berry Patricia F. Ward-Bailey Ian Greenstein Candice Byers Anne Czechanski Jocelyn Sharp Kristina Palmer Polyxeni Gudis Whitney Martin Abby Tadenev Laurent Bogdanik C. Herbert Pratt Bo Chang David G. Schroeder Gregory A. Cox Paul Cliften Jeffrey Milbrandt Stephen Murray Robert Burgess David E. Bergstrom Leah Rae Donahue Hanan Hamamy Amira Masri Federico A. Santoni
... [+30 authors] ...,
Periklis Makrythanasis
Stylianos E. Antonarakis
Jay Shendure
Laura G. Reinholdt

First Published April 27, 2015

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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

Perspective

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

In memoriam

Haig H. Kazazian, Jr. (1937–2022)

Research

Replication timing networks reveal a link between transcription regulatory circuits and replication timing control

Research

Allele-specific control of replication timing and genome organization during development

Research

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

Research

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication

Research

Dynamic changes in replication timing and gene expression during lineage specification of human pluripotent stem cells

Research

Topologically associating domains and their long-range contacts are established during early G1 coincident with the establishment of the replication-timing program

Research

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

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Your search for returned 36 results

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