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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

Method

High-resolution simulations of chromatin folding at genomic rearrangements in malignant B cells provide mechanistic insights into proto-oncogene deregulation

Daniel Rico
Daniel Kent
Nefeli Karataraki
Aneta Mikulasova
Rolando Berlinguer-Palmini
Brian A. Walker
Biola M. Javierre
Lisa J. Russell
Chris A. Brackley

First Published July 21, 2022

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

Epigenomic translocation of H3K4me3 broad domains over oncogenes following hijacking of super-enhancers

Aneta Mikulasova
Daniel Kent
Marco Trevisan-Herraz
Nefeli Karataraki
Kent T.M. Fung
Cody Ashby Agata Cieslak Shmuel Yaccoby Frits van Rhee Maurizio Zangari Sharmilan Thanendrarajan Carolina Schinke Gareth J. Morgan Vahid Asnafi Salvatore Spicuglia Chris A. Brackley Anne E. Corcoran
... [+12 authors] ...,
Sophie Hambleton
Brian A. Walker
Daniel Rico
Lisa J. Russell

First Published December 21, 2021

Research

Dynamics of broad H3K4me3 domains uncover an epigenetic switch between cell identity and cancer-related genes

Mohamed Belhocine
Mathieu Simonin
José David Abad Flores
Agata Cieslak
Iris Manosalva
Lydie Pradel Charlotte Smith Eve-Lyne Mathieu Guillaume Charbonnier Joost H.A. Martens Hendrik G. Stunnenberg Muhammad Ahmad Maqbool Aneta Mikulasova Lisa J. Russell Daniel Rico
... [+10 authors] ...,
Denis Puthier
Pierre Ferrier
Vahid Asnafi
Salvatore Spicuglia

First Published June 23, 2021

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

Resource

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

Federico A. Santoni
Periklis Makrythanasis
Sergey Nikolaev
Michel Guipponi
Daniel Robyr
Armand Bottani
Stylianos E. Antonarakis

First Published January 3, 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

Method

High-resolution simulations of chromatin folding at genomic rearrangements in malignant B cells provide mechanistic insights into proto-oncogene deregulation

Perspective

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

In memoriam

Haig H. Kazazian, Jr. (1937–2022)

Research

Epigenomic translocation of H3K4me3 broad domains over oncogenes following hijacking of super-enhancers

Research

Dynamics of broad H3K4me3 domains uncover an epigenetic switch between cell identity and cancer-related genes

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

Resource

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

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Your search for returned 29 results

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