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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

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

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

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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

Perspective

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

In memoriam

Haig H. Kazazian, Jr. (1937–2022)

Research

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

Research

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

Resource

Toward the human cellular microRNAome

Method

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

Research

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication

Research

Widespread somatic L1 retrotransposition occurs early during gastrointestinal cancer evolution

Research

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

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