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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

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

  • Stylianos E. Antonarakis
  • First Published March 31, 2022

Haig H. Kazazian, Jr. (1937–2022)

  • Stylianos E. Antonarakis
  • Stuart H. Orkin
  • First Published March 21, 2022

Chromosome assembly of large and complex genomes using multiple references

  • Mikhail Kolmogorov
  • Joel Armstrong
  • Brian J. Raney
  • Ian Streeter
  • Matthew Dunn
  • Fengtang Yang Duncan Odom Paul Flicek
  • ... [+3 authors] ...,
  • Thomas M. Keane
  • David Thybert
  • Benedict Paten
  • Son Pham
  • First Published October 19, 2018

Mus caroli and Mus pahari genomes" > Repeat associated mechanisms of genome evolution and function revealed by the Mus caroli and Mus pahari genomes

  • David Thybert
  • Maša Roller
  • Fábio C.P. Navarro
  • Ian Fiddes
  • Ian Streeter
  • Christine Feig David Martin-Galvez Mikhail Kolmogorov Václav Janoušek Wasiu Akanni Bronwen Aken Sarah Aldridge Varshith Chakrapani William Chow Laura Clarke Carla Cummins Anthony Doran Matthew Dunn Leo Goodstadt Kerstin Howe Matthew Howell Ambre-Aurore Josselin Robert C. Karn Christina M. Laukaitis Lilue Jingtao Fergal Martin Matthieu Muffato Stefanie Nachtweide Michael A. Quail Cristina Sisu Mario Stanke Klara Stefflova Cock Van Oosterhout Frederic Veyrunes Ben Ward Fengtang Yang Golbahar Yazdanifar Amonida Zadissa David J. Adams Alvis Brazma Mark Gerstein Benedict Paten
  • ... [+37 authors] ...,
  • Son Pham
  • Thomas M. Keane
  • Duncan T. Odom
  • Paul Flicek
  • First Published March 21, 2018

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

Corrigendum: Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

  • Young Seok Ju
  • Jose M.C. Tubio
  • William Mifsud
  • Beiyuan Fu
  • Helen R. Davies
  • Manasa Ramakrishna Yilong Li Lucy Yates Gunes Gundem Patrick S. Tarpey Sam Behjati Elli Papaemmanuil Sancha Martin Anthony Fullam Moritz Gerstung Jyoti Nangalia Anthony R. Green Carlos Caldas Åke Borg Andrew Tutt Ming Ta Michael Lee Laura J. van't Veer Benita K.T. Tan Samuel Aparicio Paul N. Span John W.M. Martens Stian Knappskog Anne Vincent-Salomon Anne-Lise Børresen-Dale Jórunn Erla Eyfjörd Ola Myklebost Adrienne M. Flanagan Christopher Foster David E. Neal Colin Cooper Rosalind Eeles G. Steven Bova Sunil R. Lakhani Christine Desmedt Gilles Thomas Andrea L. Richardson Colin A. Purdie Alastair M. Thompson Ultan McDermott
  • ... [+39 authors] ...,
  • Fengtang Yang
  • Serena Nik-Zainal
  • Peter J. Campbell
  • Michael R. Stratton
  • First Published May 2, 2016

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

The pig X and Y Chromosomes: structure, sequence, and evolution

  • Benjamin M. Skinner
  • Carole A. Sargent
  • Carol Churcher
  • Toby Hunt
  • Javier Herrero
  • Jane E. Loveland Matt Dunn Sandra Louzada Beiyuan Fu William Chow James Gilbert Siobhan Austin-Guest Kathryn Beal Denise Carvalho-Silva William Cheng Daria Gordon Darren Grafham Matt Hardy Jo Harley Heidi Hauser Philip Howden Kerstin Howe Kim Lachani Peter J.I. Ellis Daniel Kelly Giselle Kerry James Kerwin Bee Ling Ng Glen Threadgold Thomas Wileman Jonathan M.D. Wood
  • ... [+26 authors] ...,
  • Fengtang Yang
  • Jen Harrow
  • Nabeel A. Affara
  • Chris Tyler-Smith
  • First Published November 11, 2015

Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

  • Young Seok Ju
  • Jose M.C. Tubio
  • William Mifsud
  • Beiyuan Fu
  • Helen R. Davies
  • Manasa Ramakrishna Yilong Li Lucy Yates Gunes Gundem Patrick S. Tarpey Sam Behjati Elli Papaemmanuil Sancha Martin Anthony Fullam Moritz Gerstung Jyoti Nangalia Anthony R. Green Carlos Caldas Åke Borg Andrew Tutt Ming Ta Michael Lee Laura J. van't Veer Benita K.T. Tan Samuel Aparicio Paul N. Span John W.M. Martens Stian Knappskog Anne Vincent-Salomon Anne-Lise Børresen-Dale Jórunn Erla Eyfjörd Ola Myklebost Adrienne M. Flanagan Christopher Foster David E. Neal Colin Cooper Rosalind Eeles G. Steven Bova Sunil R. Lakhani Christine Desmedt Gilles Thomas Andrea L. Richardson Colin A. Purdie Alastair M. Thompson Ultan McDermott
  • ... [+39 authors] ...,
  • Fengtang Yang
  • Serena Nik-Zainal
  • Peter J. Campbell
  • Michael R. Stratton
  • First Published May 11, 2015
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