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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

Research

Locus-resolution analysis of L1 regulation and retrotransposition potential in mouse embryonic development

Patricia Gerdes
Dorothy Chan
Mischa Lundberg
Francisco J. Sanchez-Luque
Gabriela O. Bodea
Adam D. Ewing
Geoffrey J. Faulkner
Sandra R. Richardson

First Published October 5, 2023

Research

Somatic retrotransposition in the developing rhesus macaque brain

Victor Billon
Francisco J. Sanchez-Luque
Jay Rasmussen
Gabriela O. Bodea
Daniel J. Gerhardt
Patricia Gerdes Seth W. Cheetham Stephanie N. Schauer Prabha Ajjikuttira Thomas J. Meyer Cora E. Layman Kimberly A. Nevonen Natasha Jansz Jose L. Garcia-Perez
... [+9 authors] ...,
Sandra R. Richardson
Adam D. Ewing
Lucia Carbone
Geoffrey J. Faulkner

First Published June 21, 2022

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

L1 retrotransposition is a common feature of mammalian hepatocarcinogenesis

Stephanie N. Schauer
Patricia E. Carreira
Ruchi Shukla
Daniel J. Gerhardt
Patricia Gerdes
Francisco J. Sanchez-Luque Paola Nicoli Michaela Kindlova Serena Ghisletti Alexandre Dos Santos Delphine Rapoud Didier Samuel
... [+7 authors] ...,
Jamila Faivre
Adam D. Ewing
Sandra R. Richardson
Geoffrey J. Faulkner

First Published April 11, 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

Heritable L1 retrotransposition in the mouse primordial germline and early embryo

Sandra R. Richardson
Patricia Gerdes
Daniel J. Gerhardt
Francisco J. Sanchez-Luque
Gabriela-Oana Bodea
Martin Muñoz-Lopez J. Samuel Jesuadian Marie-Jeanne H.C. Kempen Patricia E. Carreira Jeffrey A. Jeddeloh
... [+5 authors] ...,
Jose L. Garcia-Perez
Haig H. Kazazian
Adam D. Ewing
Geoffrey J. Faulkner

First Published May 8, 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

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

Research

Locus-resolution analysis of L1 regulation and retrotransposition potential in mouse embryonic development

Research

Somatic retrotransposition in the developing rhesus macaque brain

Perspective

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

In memoriam

Haig H. Kazazian, Jr. (1937–2022)

Research

L1 retrotransposition is a common feature of mammalian hepatocarcinogenesis

Research

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

Research

Heritable L1 retrotransposition in the mouse primordial germline and early embryo

Research

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

Research

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

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