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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

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

Corrigendum

Drosophila" > Corrigendum: Tempo and mode of regulatory evolution in Drosophila

Joseph D. Coolon
C. Joel McManus
Kraig R. Stevenson
Brenton R. Graveley
Patricia J. Wittkopp

First Published November 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

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

Drosophila" > Extensive cross-regulation of post-transcriptional regulatory networks in Drosophila

Marcus H. Stoiber
Sara Olson
Gemma E. May
Michael O. Duff
Jan Manent
Robert Obar K.G. Guruharsha Peter J. Bickel
... [+3 authors] ...,
Spyros Artavanis-Tsakonas
James B. Brown
Brenton R. Graveley
Susan E. Celniker

First Published August 20, 2015

Resource

Drosophila by 56 RNA binding proteins" > Regulation of alternative splicing in Drosophila by 56 RNA binding proteins

Angela N. Brooks
Michael O. Duff
Gemma May
Li Yang
Mohan Bolisetty
Jane Landolin Ken Wan Jeremy Sandler
... [+3 authors] ...,
Benjamin W. Booth
Susan E. Celniker
Brenton R. Graveley
Steven E. Brenner

First Published August 20, 2015

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

D. melanogaster modENCODE transcriptome annotation" > Comparative validation of the D. melanogaster modENCODE transcriptome annotation

Zhen-Xia Chen
David Sturgill
Jiaxin Qu
Huaiyang Jiang
Soo Park
Nathan Boley Ana Maria Suzuki Anthony R. Fletcher David C. Plachetzki Peter C. FitzGerald Carlo G. Artieri Joel Atallah Olga Barmina James B. Brown Kerstin P. Blankenburg Emily Clough Abhijit Dasgupta Sai Gubbala Yi Han Joy C. Jayaseelan Divya Kalra Yoo-Ah Kim Christie L. Kovar Sandra L. Lee Mingmei Li James D. Malley John H. Malone Tittu Mathew Nicolas R. Mattiuzzo Mala Munidasa Donna M. Muzny Fiona Ongeri Lora Perales Teresa M. Przytycka Ling-Ling Pu Garrett Robinson Rebecca L. Thornton Nehad Saada Steven E. Scherer Harold E. Smith Charles Vinson Crystal B. Warner Kim C. Worley Yuan-Qing Wu Xiaoyan Zou Peter Cherbas Manolis Kellis Michael B. Eisen Fabio Piano Karin Kionte David H. Fitch Paul W. Sternberg Asher D. Cutter Michael O. Duff Roger A. Hoskins Brenton R. Graveley Richard A. Gibbs Peter J. Bickel Artyom Kopp
... [+54 authors] ...,
Piero Carninci
Susan E. Celniker
Brian Oliver
Stephen Richards

First Published July 1, 2014

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Your search for returned 36 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)

Corrigendum

Drosophila" > Corrigendum: Tempo and mode of regulatory evolution in Drosophila

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

Drosophila" > Extensive cross-regulation of post-transcriptional regulatory networks in Drosophila

Resource

Drosophila by 56 RNA binding proteins" > Regulation of alternative splicing in Drosophila by 56 RNA binding proteins

Research

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

Resource

D. melanogaster modENCODE transcriptome annotation" > Comparative validation of the D. melanogaster modENCODE transcriptome annotation

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