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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

Resource

C. elegans balancer strains reveals previously unappreciated complex genomic rearrangements" > Genome sequencing of C. elegans balancer strains reveals previously unappreciated complex genomic rearrangements

Tatiana Maroilley
Stephane Flibotte
Francesca Jean
Victoria Rodrigues Alves Barbosa
Andrew Galbraith
Afiya Razia Chida Filip Cotra Xiao Li
... [+3 authors] ...,
Larisa Oncea
Mark Edgley
Don Moerman
Maja Tarailo-Graovac

First Published December 5, 2022

Perspective

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

Stylianos E. Antonarakis

First Published March 31, 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

Resource

Burkholderia cenocepacia during long-term chronic infection of cystic fibrosis lungs" > Phenotypic diversity and genotypic flexibility of Burkholderia cenocepacia during long-term chronic infection of cystic fibrosis lungs

Amy Huei-Yi Lee
Stephane Flibotte
Sunita Sinha
Adrianna Paiero
Rachel L. Ehrlich
Sergey Balashov
... [+1 authors] ...,
Garth D. Ehrlich
James E.A. Zlosnik
Joshua Chang Mell
Corey Nislow

First Published March 21, 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

Resource

Caenorhabditis elegans" > The million mutation project: A new approach to genetics in Caenorhabditis elegans

Owen Thompson
Mark Edgley
Pnina Strasbourger
Stephane Flibotte
Brent Ewing
Ryan Adair Vinci Au Iasha Chaudhry Lisa Fernando Harald Hutter Armelle Kieffer Joanne Lau Norris Lee Angela Miller Greta Raymant Bin Shen Jay Shendure Jon Taylor
... [+13 authors] ...,
Emily H. Turner
LaDeana W. Hillier
Donald G. Moerman
Robert H. Waterston

First Published June 25, 2013

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

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Your search for returned 19 results

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

Resource

C. elegans balancer strains reveals previously unappreciated complex genomic rearrangements" > Genome sequencing of C. elegans balancer strains reveals previously unappreciated complex genomic rearrangements

Perspective

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

Research

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

Resource

Burkholderia cenocepacia during long-term chronic infection of cystic fibrosis lungs" > Phenotypic diversity and genotypic flexibility of Burkholderia cenocepacia during long-term chronic infection of cystic fibrosis lungs

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

Resource

Caenorhabditis elegans" > The million mutation project: A new approach to genetics in Caenorhabditis elegans

Research

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

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