Searching journal content for Stylianos E. Antonarakis in author.

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  1. Research: 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,
    • Qingguo Zhang,
    • Stylianos E. Antonarakis,
    • Timothy C. Cox,
    • and Yong-Biao Zhang
    Genome Res. May 2025 35: 1065-1079; Published in Advance April 15, 2025, doi:10.1101/gr.280047.124
  2. In memoriam: Haig H. Kazazian, Jr. (1937–2022)
    • Stylianos E. Antonarakis and
    • Stuart H. Orkin
    Genome Res. April 2022 32: v-vi; Published in Advance March 21, 2022, doi:10.1101/gr.276712.122
    OPEN ACCESS ARTICLE
  3. Perspective: Short arms of human acrocentric chromosomes and the completion of the human genome sequence
    • Stylianos E. Antonarakis
    Genome Res. April 2022 32: 599-607; Published in Advance March 31, 2022, doi:10.1101/gr.275350.121
  4. 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,
    • Diogo Meyer,
    • Laurent Excoffier,
    • Alexandre Reymond,
    • and Stylianos E. Antonarakis
    Genome Res. January 2018 28: 1-10; Published in Advance December 13, 2017, doi:10.1101/gr.228411.117
  5. 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,
    • and Sergey I. Nikolaev
    Genome Res. February 2016 26: 174-182; Published in Advance January 11, 2016, doi:10.1101/gr.197046.115
  6. 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,
    • Periklis Makrythanasis,
    • Stylianos E. Antonarakis,
    • Jay Shendure,
    • and Laura G. Reinholdt
    Genome Res. July 2015 25: 948-957; Published in Advance April 27, 2015, doi:10.1101/gr.186882.114
  7. 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,
    • and Stylianos E. Antonarakis
    Genome Res. February 2014 24: 349-355; Published in Advance January 3, 2014, doi:10.1101/gr.163832.113
  8. Resource: Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome
    • Alexandra C. Nica,
    • Halit Ongen,
    • Jean-Claude Irminger,
    • Domenico Bosco,
    • Thierry Berney,
    • Stylianos E. Antonarakis,
    • Philippe A. Halban,
    • and Emmanouil T. Dermitzakis
    Genome Res. September 2013 23: 1554-1562; Published in Advance May 28, 2013, doi:10.1101/gr.150706.112
  9. Research: The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
    • M. Reza Sailani,
    • Periklis Makrythanasis,
    • Armand Valsesia,
    • Federico A. Santoni,
    • Samuel Deutsch,
    • Konstantin Popadin,
    • Christelle Borel,
    • Eugenia Migliavacca,
    • Andrew J. Sharp,
    • Genevieve Duriaux Sail,
    • Emilie Falconnet,
    • Kelly Rabionet,
    • Clara Serra-Juhé,
    • Stefano Vicari,
    • Daniela Laux,
    • Yann Grattau,
    • Guy Dembour,
    • Andre Megarbane,
    • Renaud Touraine,
    • Samantha Stora,
    • Sofia Kitsiou,
    • Helena Fryssira,
    • Chariklia Chatzisevastou-Loukidou,
    • Emmanouel Kanavakis,
    • Giuseppe Merla,
    • Damien Bonnet,
    • Luis A. Pérez-Jurado,
    • Xavier Estivill,
    • Jean M. Delabar,
    • and Stylianos E. Antonarakis
    Genome Res. September 2013 23: 1410-1421; Published in Advance June 19, 2013, doi:10.1101/gr.147991.112
  10. Research: DNA methylation profiles of human active and inactive X chromosomes
    • Andrew J. Sharp,
    • Elisavet Stathaki,
    • Eugenia Migliavacca,
    • Manisha Brahmachary,
    • Stephen B. Montgomery,
    • Yann Dupre,
    • and Stylianos E. Antonarakis
    Genome Res. October 2011 21: 1592-1600; Published in Advance August 23, 2011, doi:10.1101/gr.112680.110
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