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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
Method

Fast and accurate out-of-core PCA framework for large scale biobank data

  • Zilong Li
  • Jonas Meisner
  • Anders Albrechtsen
  • First Published August 24, 2023
Method

Haplotype and population structure inference using neural networks in whole-genome sequencing data

  • Jonas Meisner
  • Anders Albrechtsen
  • First Published July 6, 2022
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

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

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

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

  • Federico A. Santoni
  • Periklis Makrythanasis
  • Sergey Nikolaev
  • Michel Guipponi
  • Daniel Robyr
  • Armand Bottani
  • Stylianos E. Antonarakis
  • First Published January 3, 2014
Method

Estimating inbreeding coefficients from NGS data: Impact on genotype calling and allele frequency estimation

  • Filipe G. Vieira
  • Matteo Fumagalli
  • Anders Albrechtsen
  • Rasmus Nielsen
  • First Published August 15, 2013
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