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Research

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
Method

Marker-free characterization of full-length transcriptomes of single live circulating tumor cells

  • Sarita Poonia
  • Anurag Goel
  • Smriti Chawla
  • Namrata Bhattacharya
  • Priyadarshini Rai
  • Yi Fang Lee Yoon Sim Yap Jay West Ali Asgar Bhagat Juhi Tayal Anurag Mehta
  • ... [+6 authors] ...,
  • Gaurav Ahuja
  • Angshul Majumdar
  • Naveen Ramalingam
  • Debarka Sengupta
  • First Published November 22, 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

Detection of vancomycin-resistant Enterococcus faecium hospital-adapted lineages in municipal wastewater treatment plants indicates widespread distribution and release into the environment

  • Theodore Gouliouris
  • Kathy E. Raven
  • Danesh Moradigaravand
  • Catherine Ludden
  • Francesc Coll
  • Beth Blane Plamena Naydenova Carolyne Horner Nicholas M. Brown
  • ... [+4 authors] ...,
  • Jukka Corander
  • Direk Limmathurotsakul
  • Julian Parkhill
  • Sharon J. Peacock
  • First Published March 21, 2019
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
Corrigendum

Corrigendum: Building a genomic framework for prospective MRSA surveillance in the United Kingdom and the Republic of Ireland

  • Sandra Reuter
  • M. Estée Török
  • Matthew T.G. Holden
  • Rosy Reynolds
  • Kathy E. Raven
  • Beth Blane Tjibbe Donker Stephen D. Bentley David M. Aanensen Hajo Grundmann
  • ... [+5 authors] ...,
  • Edward J. Feil
  • Brian G. Spratt
  • Julian Parkhill
  • Sharon J. Peacock
  • First Published September 1, 2017
Research

Systematic longitudinal survey of invasive Escherichia coli in England demonstrates a stable population structure only transiently disturbed by the emergence of ST131

  • Teemu Kallonen
  • Hayley J. Brodrick
  • Simon R. Harris
  • Jukka Corander
  • Nicholas M. Brown
  • Veronique Martin
  • Sharon J. Peacock
  • Julian Parkhill
  • First Published July 18, 2017
Research

Comprehensive global genome dynamics of Chlamydia trachomatis show ancient diversification followed by contemporary mixing and recent lineage expansion

  • James Hadfield
  • Simon R. Harris
  • Helena M.B. Seth-Smith
  • Surendra Parmar
  • Patiyan Andersson
  • Philip M. Giffard Julius Schachter Jeanne Moncada Louise Ellison María Lucía Gallo Vaulet Marcelo Rodríguez Fermepin Frans Radebe Suyapa Mendoza Sander Ouburg Servaas A. Morré Konrad Sachse Mirja Puolakkainen Suvi J. Korhonen Chris Sonnex Rebecca Wiggins Hamid Jalal Tamara Brunelli Patrizia Casprini Rachel Pitt Cathy Ison Alevtina Savicheva Elena Shipitsyna Ronza Hadad Laszlo Kari Matthew J. Burton David Mabey Anthony W. Solomon David Lewis Peter Marsh
  • ... [+29 authors] ...,
  • Magnus Unemo
  • Ian N. Clarke
  • Julian Parkhill
  • Nicholas R. Thomson
  • First Published June 6, 2017
Research

Multiple major disease-associated clones of Legionella pneumophila have emerged recently and independently

  • Sophia David
  • Christophe Rusniok
  • Massimo Mentasti
  • Laura Gomez-Valero
  • Simon R. Harris
  • Pierre Lechat John Lees Christophe Ginevra Philippe Glaser Laurence Ma Christiane Bouchier Anthony Underwood
  • ... [+7 authors] ...,
  • Sophie Jarraud
  • Timothy G. Harrison
  • Julian Parkhill
  • Carmen Buchrieser
  • First Published September 23, 2016
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