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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

Ultra-long-range interactions between active regulatory elements

  • Elias T. Friman
  • Ilya M. Flyamer
  • Davide Marenduzzo
  • Shelagh Boyle
  • Wendy A. Bickmore
  • First Published July 14, 2023
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

Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing

  • Sergey Aganezov
  • Sara Goodwin
  • Rachel M. Sherman
  • Fritz J. Sedlazeck
  • Gayatri Arun
  • Sonam Bhatia Isac Lee Melanie Kirsche Robert Wappel Melissa Kramer Karen Kostroff
  • ... [+6 authors] ...,
  • David L. Spector
  • Winston Timp
  • W. Richard McCombie
  • Michael C. Schatz
  • First Published September 4, 2020
Research

Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line

  • Maria Nattestad
  • Sara Goodwin
  • Karen Ng
  • Timour Baslan
  • Fritz J. Sedlazeck
  • Philipp Rescheneder Tyler Garvin Han Fang James Gurtowski Elizabeth Hutton Elizabeth Tseng Chen-Shan Chin Timothy Beck Yogi Sundaravadanam Melissa Kramer Eric Antoniou
  • ... [+11 authors] ...,
  • John D. McPherson
  • James Hicks
  • W. Richard McCombie
  • Michael C. Schatz
  • First Published June 28, 2018
Resource

A comparative transcriptional landscape of maize and sorghum obtained by single-molecule sequencing

  • Bo Wang
  • Michael Regulski
  • Elizabeth Tseng
  • Andrew Olson
  • Sara Goodwin
  • W. Richard McCombie
  • Doreen Ware
  • First Published April 30, 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
Method

Oxford Nanopore sequencing, hybrid error correction, and de novo assembly of a eukaryotic genome

  • Sara Goodwin
  • James Gurtowski
  • Scott Ethe-Sayers
  • Panchajanya Deshpande
  • Michael C. Schatz
  • W. Richard McCombie
  • First Published October 7, 2015
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