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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
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
Method

Haplotype diversity and sequence heterogeneity of human telomeres

  • Kirill Grigorev
  • Jonathan Foox
  • Daniela Bezdan
  • Daniel Butler
  • Jared J. Luxton
  • Jake Reed Miles J. McKenna Lynn Taylor
  • ... [+3 authors] ...,
  • Kerry A. George
  • Cem Meydan
  • Susan M. Bailey
  • Christopher E. Mason
  • First Published June 23, 2021
Method

Minerva: an alignment- and reference-free approach to deconvolve Linked-Reads for metagenomics

  • David C. Danko
  • Dmitry Meleshko
  • Daniela Bezdan
  • Christopher Mason
  • Iman Hajirasouliha
  • First Published December 6, 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
Corrigendum

Corrigendum: Extensive microRNA-mediated crosstalk between lncRNAs and mRNAs in mouse embryonic stem cells

  • Jennifer Y. Tan
  • Tamara Sirey
  • Frantisek Honti
  • Bryony Graham
  • Allison Piovesan
  • Matthias Merkenschlager
  • Caleb Webber
  • Chris P. Ponting
  • Ana C. Marques
  • First Published September 1, 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
Research

Extensive microRNA-mediated crosstalk between lncRNAs and mRNAs in mouse embryonic stem cells

  • Jennifer Y. Tan
  • Tamara Sirey
  • Frantisek Honti
  • Bryony Graham
  • Allison Piovesan
  • Matthias Merkenschlager
  • Caleb Webber
  • Chris P. Ponting
  • Ana C. Marques
  • First Published March 19, 2015
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