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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

CCAT2 induce myeloid malignancies via unique SNP-specific RNA mutations" > Cancer-associated rs6983267 SNP and its accompanying long noncoding RNA CCAT2 induce myeloid malignancies via unique SNP-specific RNA mutations

  • Maitri Y. Shah
  • Manuela Ferracin
  • Valentina Pileczki
  • Baoqing Chen
  • Roxana Redis
  • Linda Fabris Xinna Zhang Cristina Ivan Masayoshi Shimizu Cristian Rodriguez-Aguayo Mihnea Dragomir Katrien Van Roosbroeck Maria Ines Almeida Maria Ciccone Daniela Nedelcu Maria Angelica Cortez Taghi Manshouri Steliana Calin Muharrem Muftuoglu Pinaki P. Banerjee Mustafa H. Badiwi Jan Parker-Thornburg Asha Multani James William Welsh Marcos Roberto Estecio Hui Ling Ciprian Tomuleasa Delia Dima Hui Yang Hector Alvarez M. James You Milan Radovich Elizabeth Shpall Muller Fabbri Katy Rezvani Leonard Girnita Ioana Berindan-Neagoe Anirban Maitra Srdan Verstovsek Riccardo Fodde
  • ... [+35 authors] ...,
  • Carlos Bueso-Ramos
  • Mihai Gagea
  • Guillermo Garcia Manero
  • George A. Calin
  • First Published March 22, 2018
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
Research

CCAT2, a novel noncoding RNA mapping to 8q24, underlies metastatic progression and chromosomal instability in colon cancer" > CCAT2, a novel noncoding RNA mapping to 8q24, underlies metastatic progression and chromosomal instability in colon cancer

  • Hui Ling
  • Riccardo Spizzo
  • Yaser Atlasi
  • Milena Nicoloso
  • Masayoshi Shimizu
  • Roxana S. Redis Naohiro Nishida Roberta Gafà Jian Song Zhiyi Guo Cristina Ivan Elisa Barbarotto Ingrid De Vries Xinna Zhang Manuela Ferracin Mike Churchman Janneke F. van Galen Berna H. Beverloo Maryam Shariati Franziska Haderk Marcos R. Estecio Guillermo Garcia-Manero Gijs A. Patijn David C. Gotley Vikas Bhardwaj Imad Shureiqi Subrata Sen Asha S. Multani James Welsh Ken Yamamoto Itsuki Taniguchi Min-Ae Song Steven Gallinger Graham Casey Stephen N. Thibodeau Loïc Le Marchand Maarit Tiirikainen Sendurai A. Mani Wei Zhang Ramana V. Davuluri Koshi Mimori Masaki Mori Anieta M. Sieuwerts John W.M. Martens Ian Tomlinson Massimo Negrini Ioana Berindan-Neagoe John A. Foekens Stanley R. Hamilton
  • ... [+44 authors] ...,
  • Giovanni Lanza
  • Scott Kopetz
  • Riccardo Fodde
  • George A. Calin
  • First Published June 24, 2013
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
  • ... [+21 authors] ...,
  • Luis A. Pérez-Jurado
  • Xavier Estivill
  • Jean M. Delabar
  • Stylianos E. Antonarakis
  • First Published June 19, 2013
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