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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

Systems analysis reveals complex biological processes during virus infection fate decisions

  • Jordi Argilaguet
  • Mireia Pedragosa
  • Anna Esteve-Codina
  • Graciela Riera
  • Enric Vidal
  • Cristina Peligero-Cruz Valentina Casella David Andreu Tsuneyasu Kaisho
  • ... [+4 authors] ...,
  • Gennady Bocharov
  • Burkhard Ludewig
  • Simon Heath
  • Andreas Meyerhans
  • First Published May 28, 2019
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

Callithrix jacchus genome" > Discovery of a new repeat family in the Callithrix jacchus genome

  • Miriam K. Konkel
  • Brygg Ullmer
  • Erika L. Arceneaux
  • Sreeja Sanampudi
  • Sarah A. Brantley
  • Robert Hubley
  • Arian F.A. Smit
  • Mark A. Batzer
  • First Published February 25, 2016
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
Research

Whole-epigenome analysis in multiple myeloma reveals DNA hypermethylation of B cell-specific enhancers

  • Xabier Agirre
  • Giancarlo Castellano
  • Marien Pascual
  • Simon Heath
  • Marta Kulis
  • Victor Segura Anke Bergmann Anna Esteve Angelika Merkel Emanuele Raineri Lidia Agueda Julie Blanc David Richardson Laura Clarke Avik Datta Nuria Russiñol Ana C. Queirós Renée Beekman Juan R. Rodríguez-Madoz Edurne San José-Enériz Fang Fang Norma C. Gutiérrez José M. García-Verdugo Michael I. Robson Eric C. Schirmer Elisabeth Guruceaga Joost H.A. Martens Marta Gut Maria J. Calasanz Paul Flicek Reiner Siebert Elías Campo Jesús F. San Miguel Ari Melnick
  • ... [+29 authors] ...,
  • Hendrik G. Stunnenberg
  • Ivo G. Gut
  • Felipe Prosper
  • José I. Martín-Subero
  • First Published February 2, 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
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