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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

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

Alu insertion variants alter gene transcript levels" > Alu insertion variants alter gene transcript levels

Lindsay M. Payer
Jared P. Steranka
Maria S. Kryatova
Giacomo Grillo
Mathieu Lupien
Pedro P. Rocha
Kathleen H. Burns

First Published November 19, 2021

cis-regulatory elements underpinning TAD structures and lineage-specific regulatory networks" > Identifying clusters of cis-regulatory elements underpinning TAD structures and lineage-specific regulatory networks

Seyed Ali Madani Tonekaboni
Parisa Mazrooei
Victor Kofia
Benjamin Haibe-Kains
Mathieu Lupien

First Published September 18, 2019

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

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

cis-regulatory modules controlling liver functions" > The logic of transcriptional regulator recruitment architecture at cis-regulatory modules controlling liver functions

Julie Dubois-Chevalier
Vanessa Dubois
Hélène Dehondt
Parisa Mazrooei
Claire Mazuy
Aurélien A. Sérandour Céline Gheeraert Penderia Guillaume Eric Baugé Bruno Derudas Nathalie Hennuyer Réjane Paumelle Guillemette Marot Jason S. Carroll
... [+9 authors] ...,
Mathieu Lupien
Bart Staels
Philippe Lefebvre
Jérôme Eeckhoute

First Published April 11, 2017

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

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

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