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Your search for returned 60 results

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

Evaluation of strategies for evidence-driven genome annotation using long-read RNA-seq

Alejandro Paniagua
Cristina Agustín-García
Francisco J. Pardo-Palacios
Thomas Brown
Maite De Maria
Nancy D. Denslow
Camila J. Mazzoni
Ana Conesa

First Published December 23, 2024

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

Stylianos E. Antonarakis

First Published March 31, 2022

Haig H. Kazazian, Jr. (1937–2022)

Stylianos E. Antonarakis
Stuart H. Orkin

First Published March 21, 2022

C. Thomas Caskey (1938–2022)

Richard A. Gibbs
Aravinda Chakravarti
Evan E. Eichler
Eric D. Green
Richard M. Myers
Anne C. Ferguson-Smith
Kateryna D. Makova
Hillary E. Sussman

First Published February 17, 2022

Deborah A. Nickerson (1954 –2021)

Aravinda Chakravarti
Evan E. Eichler
Richard A. Gibbs
Eric D. Green
Richard M. Myers
Hillary E. Sussman

First Published January 24, 2022

Bos taurus reveals pervasiveness of X–Y arms races in mammalian lineages" > Sequence analysis in Bos taurus reveals pervasiveness of X–Y arms races in mammalian lineages

Jennifer F. Hughes
Helen Skaletsky
Tatyana Pyntikova
Natalia Koutseva
Terje Raudsepp
Laura G. Brown Daniel W. Bellott Ting-Jan Cho Shannon Dugan-Rocha Ziad Khan Colin Kremitzki Catrina Fronick Tina A. Graves-Lindsay Lucinda Fulton Wesley C. Warren Richard K. Wilson Elaine Owens James E. Womack William J. Murphy Donna M. Muzny
... [+15 authors] ...,
Kim C. Worley
Bhanu P. Chowdhary
Richard A. Gibbs
David C. Page

First Published November 18, 2020

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

Macaca mulatta) based on whole-genome sequences" > The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences

Cheng Xue
Muthuswamy Raveendran
R. Alan Harris
Gloria L. Fawcett
Xiaoming Liu
Simon White Mahmoud Dahdouli David Rio Deiros Jennifer E. Below William Salerno Laura Cox Guoping Fan Betsy Ferguson Julie Horvath Zach Johnson Sree Kanthaswamy H. Michael Kubisch Dahai Liu Michael Platt David G. Smith Binghua Sun Eric J. Vallender Feng Wang Roger W. Wiseman Rui Chen
... [+20 authors] ...,
Donna M. Muzny
Richard A. Gibbs
Fuli Yu
Jeffrey Rogers

First Published October 17, 2016

Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young

D. Nicole R. Methner
Steven E. Scherer
Katherine Welch
Magdalena Walkiewicz
Christine M. Eng
John W. Belmont Mark C. Powell Viktoriya Korchina Harsha Vardhan Doddapaneni Donna M. Muzny
... [+5 authors] ...,
Richard A. Gibbs
Dwayne A. Wolf
Luis A. Sanchez
Roger Kahn

First Published July 19, 2016

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