Search | Genome Research

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

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

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

Characteristics of de novo structural changes in the human genome

Wigard P. Kloosterman
Laurent C. Francioli
Fereydoun Hormozdiari
Tobias Marschall
Jayne Y. Hehir-Kwa
Abdel Abdellaoui Eric-Wubbo Lameijer Matthijs H. Moed Vyacheslav Koval Ivo Renkens Markus J. van Roosmalen Pascal Arp Lennart C. Karssen Bradley P. Coe Robert E. Handsaker Eka D. Suchiman Edwin Cuppen Djie Tjwan Thung Mitch McVey Michael C. Wendl André Uitterlinden Cornelia M. van Duijn Morris A. Swertz Cisca Wijmenga GertJan B. van Ommen P. Eline Slagboom Dorret I. Boomsma Alexander Schönhuth Evan E. Eichler Paul I.W. de Bakker Kai Ye Victor Guryev André Uitterlinden Cornelia M. van Duijn Morris A. Swertz Cisca Wijmenga GertJan B. van Ommen P. Eline Slagboom Dorret I. Boomsma Alexander Schönhuth
... [+35 authors] ...,
Evan E. Eichler
Paul I.W. de Bakker
Kai Ye
Victor Guryev

First Published April 16, 2015

Resource

lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse lines" > A lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse lines

David B. West
Ravi K. Pasumarthi
Brian Baridon
Esi Djan
Amanda Trainor
Stephen M. Griffey Eric K. Engelhard
... [+2 authors] ...,
Jared Rapp
Bowen Li
Pieter J. de Jong
K.C. Kent Lloyd

First Published January 15, 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

Research

Genomic and transcriptomic plasticity in treatment-naïve ovarian cancer

Marlous Hoogstraat
Mirjam S. de Pagter
Geert A. Cirkel
Markus J. van Roosmalen
Timothy T. Harkins
Karen Duran Jennifer Kreeftmeijer Ivo Renkens Petronella O. Witteveen Clarence C. Lee Isaac J. Nijman Tanisha Guy Ruben van ’t Slot Trudy N. Jonges Martijn P. Lolkema Marco J. Koudijs
... [+11 authors] ...,
Ronald P. Zweemer
Emile E. Voest
Edwin Cuppen
Wigard P. Kloosterman

First Published November 12, 2013

Filter results by:

Your search for returned 46 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

Perspective

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

In memoriam

Haig H. Kazazian, Jr. (1937–2022)

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

Characteristics of de novo structural changes in the human genome

Resource

lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse lines" > A lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse lines

Resource

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

Research

Genomic and transcriptomic plasticity in treatment-naïve ovarian cancer

Filter results by:

Filter by Author

Filter by Article type

Your search for returned 46 results

Research

Perspective

In memoriam

Research

Research

Research

Research

Resource

Resource

Research