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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

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

Discovery of noncanonical translation initiation sites through mass spectrometric analysis of protein N termini

  • Chan Hyun Na
  • Mustafa A. Barbhuiya
  • Min-Sik Kim
  • Steven Verbruggen
  • Stephen M. Eacker
  • Olga Pletnikova Juan C. Troncoso
  • ... [+2 authors] ...,
  • Marc K. Halushka
  • Gerben Menschaert
  • Christopher M. Overall
  • Akhilesh Pandey
  • First Published November 21, 2017
Resource

Toward the human cellular microRNAome

  • Matthew N. McCall
  • Min-Sik Kim
  • Mohammed Adil
  • Arun H. Patil
  • Yin Lu
  • Christopher J. Mitchell Pamela Leal-Rojas Jinchong Xu Manoj Kumar Valina L. Dawson Ted M. Dawson Alexander S. Baras Avi Z. Rosenberg
  • ... [+8 authors] ...,
  • Dan E. Arking
  • Kathleen H. Burns
  • Akhilesh Pandey
  • Marc K. Halushka
  • First Published September 6, 2017
Method

Integrating transcriptomic and proteomic data for accurate assembly and annotation of genomes

  • T.S. Keshava Prasad
  • Ajeet Kumar Mohanty
  • Manish Kumar
  • Sreelakshmi K. Sreenivasamurthy
  • Gourav Dey
  • Raja Sekhar Nirujogi Sneha M. Pinto Anil K. Madugundu Arun H. Patil Jayshree Advani Srikanth S. Manda Manoj Kumar Gupta Sutopa B. Dwivedi Dhanashree S. Kelkar Brantley Hall Xiaofang Jiang Ashley Peery Pavithra Rajagopalan Soujanya D. Yelamanchi Hitendra S. Solanki Remya Raja Gajanan J. Sathe Sandip Chavan Renu Verma Krishna M. Patel Ankit P. Jain Nazia Syed Keshava K. Datta Aafaque Ahmed Khan Manjunath Dammalli Savita Jayaram Aneesha Radhakrishnan Christopher J. Mitchell Chan-Hyun Na Nirbhay Kumar Photini Sinnis Igor V. Sharakhov Charles Wang
  • ... [+33 authors] ...,
  • Harsha Gowda
  • Zhijian Tu
  • Ashwani Kumar
  • Akhilesh Pandey
  • First Published November 15, 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
Corrigendum

Corrigendum: Extensive microRNA-mediated crosstalk between lncRNAs and mRNAs in mouse embryonic stem cells

  • Jennifer Y. Tan
  • Tamara Sirey
  • Frantisek Honti
  • Bryony Graham
  • Allison Piovesan
  • Matthias Merkenschlager
  • Caleb Webber
  • Chris P. Ponting
  • Ana C. Marques
  • First Published September 1, 2015
Research

Widespread somatic L1 retrotransposition occurs early during gastrointestinal cancer evolution

  • Adam D. Ewing
  • Anthony Gacita
  • Laura D. Wood
  • Florence Ma
  • Dongmei Xing
  • Min-Sik Kim Srikanth S. Manda Gabriela Abril Gavin Pereira Alvin Makohon-Moore Leendert H.J. Looijenga Ad J.M. Gillis Ralph H. Hruban Robert A. Anders Katharine E. Romans Akhilesh Pandey Christine A. Iacobuzio-Donahue
  • ... [+12 authors] ...,
  • Bert Vogelstein
  • Kenneth W. Kinzler
  • Haig H. Kazazian
  • Szilvia Solyom
  • First Published August 10, 2015
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