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The SynMall resource for characterizing the functional impact of synonymous variation

  • Chen Ye
  • Xiaoyan Li
  • Na Cheng
  • Yansen Su
  • Junfeng Xia
  • First Published December 17, 2025

Accurate sequencing of DNA motifs able to form alternative (non-B) structures

  • Matthias H. Weissensteiner
  • Marzia A. Cremona
  • Wilfried M. Guiblet
  • Nicholas Stoler
  • Robert S. Harris
  • Monika Cechova
  • ... [+1 authors] ...,
  • Kristin A. Eckert
  • Francesca Chiaromonte
  • Yi-Fei Huang
  • Kateryna D. Makova
  • First Published July 11, 2023

Selection and thermostability suggest G-quadruplexes are novel functional elements of the human genome

  • Wilfried M. Guiblet
  • Michael DeGiorgio
  • Xiaoheng Cheng
  • Francesca Chiaromonte
  • Kristin A. Eckert
  • Yi-Fei Huang
  • Kateryna D. Makova
  • First Published June 29, 2021

Long-read sequencing technology indicates genome-wide effects of non-B DNA on polymerization speed and error rate

  • Wilfried M. Guiblet
  • Marzia A. Cremona
  • Monika Cechova
  • Robert S. Harris
  • Iva Kejnovská
  • Eduard Kejnovsky
  • Kristin Eckert
  • Francesca Chiaromonte
  • Kateryna D. Makova
  • First Published November 6, 2018

Corrigendum: A genome-wide analysis of common fragile sites: What features determine chromosomal instability in the human genome?

  • Arkarachai Fungtammasan
  • Erin Walsh
  • Francesca Chiaromonte
  • Kristin A. Eckert
  • Kateryna D. Makova
  • First Published October 3, 2016

Read clouds uncover variation in complex regions of the human genome

  • Alex Bishara
  • Yuling Liu
  • Ziming Weng
  • Dorna Kashef-Haghighi
  • Daniel E. Newburger
  • Robert West
  • Arend Sidow
  • Serafim Batzoglou
  • First Published August 18, 2015

Discovery of recurrent structural variants in nasopharyngeal carcinoma

  • Anton Valouev
  • Ziming Weng
  • Robert T. Sweeney
  • Sushama Varma
  • Quynh-Thu Le
  • Christina Kong
  • Arend Sidow
  • Robert B. West
  • First Published November 8, 2013

Next-generation sequencing of paired tyrosine kinase inhibitor-sensitive and -resistant EGFR mutant lung cancer cell lines identifies spectrum of DNA changes associated with drug resistance

  • Peilin Jia
  • Hailing Jin
  • Catherine B. Meador
  • Junfeng Xia
  • Kadoaki Ohashi
  • Lin Liu Valentina Pirazzoli Kimberly B. Dahlman
  • ... [+3 authors] ...,
  • Katerina Politi
  • Franziska Michor
  • Zhongming Zhao
  • William Pao
  • First Published June 3, 2013

Genome evolution during progression to breast cancer

  • Daniel E. Newburger
  • Dorna Kashef-Haghighi
  • Ziming Weng
  • Raheleh Salari
  • Robert T. Sweeney
  • Alayne L. Brunner Shirley X. Zhu Xiangqian Guo Sushama Varma
  • ... [+4 authors] ...,
  • Megan L. Troxell
  • Robert B. West
  • Serafim Batzoglou
  • Arend Sidow
  • First Published April 8, 2013

The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes

  • Stephen B. Montgomery
  • David L. Goode
  • Erika Kvikstad
  • Cornelis A. Albers
  • Zhengdong D. Zhang
  • Xinmeng Jasmine Mu Guruprasad Ananda Bryan Howie Konrad J. Karczewski Kevin S. Smith Vanessa Anaya Rhea Richardson Joe Davis Daniel G. MacArthur Arend Sidow Laurent Duret Mark Gerstein
  • ... [+12 authors] ...,
  • Kateryna D. Makova
  • Jonathan Marchini
  • Gil McVean
  • Gerton Lunter
  • First Published March 11, 2013
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