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Your search for returned 41 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

A deconvolution framework that uses single-cell sequencing plus a small benchmark data set for accurate analysis of cell type ratios in complex tissue samples

Shuai Guo
Xiaoqian Liu
Xuesen Cheng
Yujie Jiang
Shuangxi Ji
Qingnan Liang Andrew Koval Yumei Li Leah A. Owen Ivana K. Kim Ana Aparicio Sanghoon Lee Anil K. Sood Scott Kopetz John Paul Shen
... [+10 authors] ...,
John N. Weinstein
Margaret M. DeAngelis
Rui Chen
Wenyi Wang

First Published November 25, 2024

Accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples

Shuangxi Ji
Tong Zhu
Ankit Sethia
Wenyi Wang

First Published April 8, 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

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

Paternal age in rhesus macaques is positively associated with germline mutation accumulation but not with measures of offspring sociability

Richard J. Wang
Gregg W.C. Thomas
Muthuswamy Raveendran
R. Alan Harris
Harshavardhan Doddapaneni
Donna M. Muzny
... [+1 authors] ...,
John P. Capitanio
Predrag Radivojac
Jeffrey Rogers
Matthew W. Hahn

First Published May 27, 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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