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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
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

Great ape Y Chromosome and mitochondrial DNA phylogenies reflect subspecies structure and patterns of mating and dispersal

  • Pille Hallast
  • Pierpaolo Maisano Delser
  • Chiara Batini
  • Daniel Zadik
  • Mariano Rocchi
  • Werner Schempp
  • Chris Tyler-Smith
  • Mark A. Jobling
  • First Published February 16, 2016
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
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