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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

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
Research

Complex mosaic structural variations in human fetal brains

  • Shobana Sekar
  • Livia Tomasini
  • Christos Proukakis
  • Taejeong Bae
  • Logan Manlove
  • Yeongjun Jang Soraya Scuderi Bo Zhou Maria Kalyva Anahita Amiri Jessica Mariani
  • ... [+6 authors] ...,
  • Fritz J. Sedlazeck
  • Alexander E. Urban
  • Flora M. Vaccarino
  • Alexej Abyzov
  • First Published October 29, 2020
Research

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
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

TERT aberrations in acral melanoma" > Integrated genomic analyses reveal frequent TERT aberrations in acral melanoma

  • Winnie S. Liang
  • William Hendricks
  • Jeffrey Kiefer
  • Jessica Schmidt
  • Shobana Sekar
  • John Carpten David W. Craig Jonathan Adkins Lori Cuyugan Zarko Manojlovic Rebecca F. Halperin Adrienne Helland Sara Nasser Christophe Legendre Laurence H. Hurley Karthigayini Sivaprakasam Douglas B. Johnson Holly Crandall Klaus J. Busam Victoria Zismann Valerie Deluca Jeeyun Lee
  • ... [+17 authors] ...,
  • Aleksandar Sekulic
  • Charlotte E. Ariyan
  • Jeffrey Sosman
  • Jeffrey Trent
  • First Published April 3, 2017
Research

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
Research

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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