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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

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

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

Guntram Borck
Friederike Hög
Maria Lisa Dentici
Perciliz L. Tan
Nadine Sowada
Ana Medeira Lucie Gueneau Holger Thiele Maria Kousi Francesca Lepri Larissa Wenzeck Ian Blumenthal Antonio Radicioni Tito Livio Schwarzenberg Barbara Mandriani Rita Fischetto Deborah J. Morris-Rosendahl Janine Altmüller Alexandre Reymond Peter Nürnberg Giuseppe Merla
... [+16 authors] ...,
Bruno Dallapiccola
Nicholas Katsanis
Patrick Cramer
Christian Kubisch

First Published January 5, 2015

Research

Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures

Giuliana Giannuzzi
Eugenia Migliavacca
Alexandre Reymond

First Published June 10, 2014

Research

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

M. Reza Sailani
Periklis Makrythanasis
Armand Valsesia
Federico A. Santoni
Samuel Deutsch
Konstantin Popadin Christelle Borel Eugenia Migliavacca Andrew J. Sharp Genevieve Duriaux Sail Emilie Falconnet Kelly Rabionet Clara Serra-Juhé Stefano Vicari Daniela Laux Yann Grattau Guy Dembour Andre Megarbane Renaud Touraine Samantha Stora Sofia Kitsiou Helena Fryssira Chariklia Chatzisevastou-Loukidou Emmanouel Kanavakis Giuseppe Merla Damien Bonnet
... [+21 authors] ...,
Luis A. Pérez-Jurado
Xavier Estivill
Jean M. Delabar
Stylianos E. Antonarakis

First Published June 19, 2013

Research

DNA methylation profiles of human active and inactive X chromosomes

Andrew J. Sharp
Elisavet Stathaki
Eugenia Migliavacca
Manisha Brahmachary
Stephen B. Montgomery
Yann Dupre
Stylianos E. Antonarakis

First Published August 23, 2011

Research

Copy number variation modifies expression time courses

Evelyne Chaignat
Emilie Aït Yahya-Graison
Charlotte N. Henrichsen
Jacqueline Chrast
Frédéric Schütz
Sylvain Pradervand
Alexandre Reymond

First Published November 17, 2010

Research

The effect of translocation-induced nuclear reorganization on gene expression

Louise Harewood
Frédéric Schütz
Shelagh Boyle
Paul Perry
Mauro Delorenzi
Wendy A. Bickmore
Alexandre Reymond

First Published March 8, 2010

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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

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

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

Research

Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures

Research

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

Research

DNA methylation profiles of human active and inactive X chromosomes

Research

Copy number variation modifies expression time courses

Research

The effect of translocation-induced nuclear reorganization on gene expression

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