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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

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

Method

Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations

Jonathan S. Brammeld
Mia Petljak
Inigo Martincorena
Steven P. Williams
Luz Garcia Alonso
Alba Dalmases Beatriz Bellosillo Carla Daniela Robles-Espinoza Stacey Price Syd Barthorpe Patrick Tarpey Constantine Alifrangis Graham Bignell Joana Vidal Jamie Young Lucy Stebbings Kathryn Beal Michael R. Stratton Julio Saez-Rodriguez
... [+14 authors] ...,
Mathew Garnett
Clara Montagut
Francesco Iorio
Ultan McDermott

First Published February 8, 2017

Corrigendum

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

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

Research

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

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

C. elegans whole-genome sequencing reveals mutational signatures related to carcinogens and DNA repair deficiency

Bettina Meier
Susanna L. Cooke
Joerg Weiss
Aymeric P. Bailly
Ludmil B. Alexandrov
John Marshall Keiran Raine Mark Maddison
... [+3 authors] ...,
Elizabeth Anderson
Michael R. Stratton
Anton Gartner
Peter J. Campbell

First Published July 16, 2014

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Your search for returned 33 results

Research

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

Method

Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations

Corrigendum

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

Research

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

Research

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

Research

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

Research

C. elegans whole-genome sequencing reveals mutational signatures related to carcinogens and DNA repair deficiency

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