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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

Research

Rearrangements of viral and human genomes at human papillomavirus integration events and their allele-specific impacts on cancer genome regulation

Vanessa L. Porter
Michelle Ng
Kieran O'Neill
Signe MacLennan
Richard D. Corbett
Luka Culibrk Zeid Hamadeh Marissa Iden Rachel Schmidt Shirng-Wern Tsaih Carolyn Nakisige Martin Origa Jackson Orem Glenn Chang Jeremy Fan Ka Ming Nip Vahid Akbari Simon K. Chan James Hopkins Richard A. Moore Eric Chuah Karen L. Mungall Andrew J. Mungall
... [+18 authors] ...,
Inanc Birol
Steven J.M. Jones
Janet S. Rader
Marco A. Marra

First Published December 5, 2024

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

High-resolution structural genomics reveals new therapeutic vulnerabilities in glioblastoma

Michael J. Johnston
Ana Nikolic
Nicoletta Ninkovic
Paul Guilhamon
Florence M.G. Cavalli
Steven Seaman Franz J. Zemp John Lee Aly Abdelkareem Katrina Ellestad Alex Murison Michelle M. Kushida Fiona J. Coutinho Yussanne Ma Andrew J. Mungall Richard Moore Marco A. Marra Michael D. Taylor Peter B. Dirks Trevor J. Pugh Sorana Morrissy
... [+16 authors] ...,
Bradley St Croix
Douglas J. Mahoney
Mathieu Lupien
Marco Gallo

First Published June 27, 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

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

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

PTPRZ1-MET fusion transcript in secondary glioblastomas" > RNA-seq of 272 gliomas revealed a novel, recurrent PTPRZ1-MET fusion transcript in secondary glioblastomas

Zhao-Shi Bao
Hui-Min Chen
Ming-Yu Yang
Chuan-Bao Zhang
Kai Yu
Wan-Lu Ye Bo-Qiang Hu Wei Yan Wei Zhang Johnny Akers Valya Ramakrishnan Jie Li Bob Carter Yan-Wei Liu Hui-Min Hu Zheng Wang Ming-Yang Li Kun Yao Xiao-Guang Qiu Chun-Sheng Kang Yong-Ping You Xiao-Long Fan Wei Sonya Song
... [+18 authors] ...,
Rui-Qiang Li
Xiao-Dong Su
Clark C. Chen
Tao Jiang

First Published August 18, 2014

Method

TITAN: inference of copy number architectures in clonal cell populations from tumor whole-genome sequence data

Gavin Ha
Andrew Roth
Jaswinder Khattra
Julie Ho
Damian Yap
Leah M. Prentice Nataliya Melnyk Andrew McPherson Ali Bashashati Emma Laks Justina Biele Jiarui Ding Alan Le Jamie Rosner Karey Shumansky Marco A. Marra C. Blake Gilks
... [+12 authors] ...,
David G. Huntsman
Jessica N. McAlpine
Samuel Aparicio
Sohrab P. Shah

First Published July 24, 2014

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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

Research

Rearrangements of viral and human genomes at human papillomavirus integration events and their allele-specific impacts on cancer genome regulation

Perspective

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

In memoriam

Haig H. Kazazian, Jr. (1937–2022)

Research

High-resolution structural genomics reveals new therapeutic vulnerabilities in glioblastoma

Research

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

Research

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

Research

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

Research

PTPRZ1-MET fusion transcript in secondary glioblastomas" > RNA-seq of 272 gliomas revealed a novel, recurrent PTPRZ1-MET fusion transcript in secondary glioblastomas

Method

TITAN: inference of copy number architectures in clonal cell populations from tumor whole-genome sequence data

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