Search | Genome Research

Your search for returned 47 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

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

Drosophila and C. elegans transcription factors reveal tissue-specific regulatory relationships" > Binding profiles for 961 Drosophila and C. elegans transcription factors reveal tissue-specific regulatory relationships

Michelle Kudron
Louis Gevirtzman
Alec Victorsen
Bridget C. Lear
Jiahao Gao
Jinrui Xu Swapna Samanta Emily Frink Adri Tran-Pearson Chau Huynh Dionne Vafeados Ann Hammonds William Fisher Martha Wall Greg Wesseling Vanessa Hernandez Zhichun Lin Mary Kasparian Kevin White Ravi Allada Mark Gerstein
... [+16 authors] ...,
LaDeana Hillier
Susan E. Celniker
Valerie Reinke
Robert H. Waterston

First Published October 22, 2024

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

Resource

Caenorhabditis elegans nematodes" > Comprehensive characterization of tissue-specific chromatin accessibility in L2 Caenorhabditis elegans nematodes

Timothy J. Durham
Riza M. Daza
Louis Gevirtzman
Darren A. Cusanovich
Olubusayo Bolonduro
William Stafford Noble
Jay Shendure
Robert H. Waterston

First Published April 22, 2021

Resource

Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution

Flavia Angela Maria Maggiolini
Ashley D. Sanders
Colin James Shew
Arvis Sulovari
Yafei Mao
Marta Puig Claudia Rita Catacchio Maria Dellino Donato Palmisano Ludovica Mercuri Miriana Bitonto David Porubský Mario Cáceres Evan E. Eichler
... [+9 authors] ...,
Mario Ventura
Megan Y. Dennis
Jan O. Korbel
Francesca Antonacci

First Published October 22, 2020

Method

Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR

Marta Puig
Jon Lerga-Jaso
Carla Giner-Delgado
Sarai Pacheco
David Izquierdo
Alejandra Delprat
... [+1 authors] ...,
Magdalena Gayà-Vidal
Jack F. Regan
George Karlin-Neumann
Mario Cáceres

First Published May 18, 2020

Resource

C. elegans embryonic transcriptome with tissue, time, and alternative splicing resolution" > The C. elegans embryonic transcriptome with tissue, time, and alternative splicing resolution

Adam D. Warner
Louis Gevirtzman
LaDeana W. Hillier
Brent Ewing
Robert H. Waterston

First Published May 23, 2019

In memoriam

John Sulston (1942–2018)

Robert H. Waterston

First Published June 1, 2018

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

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