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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

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

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

Resource

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 December 15, 2015

Research

Streptococcus equi, is driven by persistent infection" > Genome specialization and decay of the strangles pathogen, Streptococcus equi, is driven by persistent infection

Simon R. Harris
Carl Robinson
Karen F. Steward
Katy S. Webb
Romain Paillot
Julian Parkhill
Matthew T.G. Holden
Andrew S. Waller

First Published July 9, 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

Erratum

Burkholderia pseudomallei sequencing identifies genomic clades with distinct recombination, accessory, and epigenetic profiles" > Burkholderia pseudomallei sequencing identifies genomic clades with distinct recombination, accessory, and epigenetic profiles

Tannistha Nandi
Matthew T.G. Holden
Xavier Didelot
Kurosh Mehershahi
Justin A. Boddey
Ifor Beacham Ian Peak John Harting Primo Baybayan Yan Guo Susana Wang Lee Chee How Bernice Sim Angela Essex-Lopresti Mitali Sarkar-Tyson Michelle Nelson Sophie Smither Catherine Ong Lay Tin Aw Chua Hui Hoon Stephen Michell David J. Studholme
... [+17 authors] ...,
Richard Titball
Swaine L. Chen
Julian Parkhill
Patrick Tan

First Published April 1, 2015

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Your search for returned 36 results

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

Perspective

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

In memoriam

Haig H. Kazazian, Jr. (1937–2022)

Research

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

Corrigendum

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

Research

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication

Resource

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

Research

Streptococcus equi, is driven by persistent infection" > Genome specialization and decay of the strangles pathogen, Streptococcus equi, is driven by persistent infection

Research

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

Erratum

Burkholderia pseudomallei sequencing identifies genomic clades with distinct recombination, accessory, and epigenetic profiles" > Burkholderia pseudomallei sequencing identifies genomic clades with distinct recombination, accessory, and epigenetic profiles

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Your search for returned 36 results

Research

Perspective

In memoriam

Research

Corrigendum

Research

Resource

Research

Research

Erratum