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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

Acomys) ear" > Spatial transcriptomics reveals asymmetric cellular responses to injury in the regenerating spiny mouse (Acomys) ear

Henriëtte van Beijnum
Tim Koopmans
Antonio Tomasso
Vanessa Disela
Severin te Lindert
Jeroen Bakkers
Anna Alemany
Eugene Berezikov
Kerstin Bartscherer

First Published September 19, 2023

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

Enterococcus faecium hospital-adapted lineages in municipal wastewater treatment plants indicates widespread distribution and release into the environment" > 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

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: 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

Escherichia coli in England demonstrates a stable population structure only transiently disturbed by the emergence of ST131" > 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

Chlamydia trachomatis show ancient diversification followed by contemporary mixing and recent lineage expansion" > 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

Legionella pneumophila have emerged recently and independently" > 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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