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Stylianos E. Antonarakis
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26
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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
Abstract
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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
Extract
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OPEN ACCESS ARTICLE
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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
Abstract
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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
Abstract
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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
Abstract
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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
Abstract
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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
Abstract
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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
Abstract
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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
Abstract
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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
Abstract
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