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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

An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes

Chong Li
Marc Jan Bonder
Sabriya Syed
Matthew Jensen
Mark B. Gerstein
Michael C. Zody Mark J.P. Chaisson Michael E. Talkowski Tobias Marschall
... [+4 authors] ...,
Jan O. Korbel
Evan E. Eichler
Charles Lee
Xinghua Shi

First Published December 5, 2024

Assessing and mitigating privacy risks of sparse, noisy genotypes by local alignment to haplotype databases

Prashant S. Emani
Maya N. Geradi
Gamze Gürsoy
Monica R. Grasty
Andrew Miranker
Mark B. Gerstein

First Published December 14, 2023

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

Stylianos E. Antonarakis

First Published March 31, 2022

Haig H. Kazazian, Jr. (1937–2022)

Stylianos E. Antonarakis
Stuart H. Orkin

First Published March 21, 2022

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

Dynamic RNA–protein interactions underlie the zebrafish maternal-to-zygotic transition

Vladimir Despic
Mario Dejung
Mengting Gu
Jayanth Krishnan
Jing Zhang
Lydia Herzel
... [+1 authors] ...,
Korinna Straube
Mark B. Gerstein
Falk Butter
Karla M. Neugebauer

First Published April 5, 2017

MHC haplotypes reveal extreme coding variation in genes other than highly polymorphic HLA class I and II" > Sequences of 95 human MHC haplotypes reveal extreme coding variation in genes other than highly polymorphic HLA class I and II

Paul J. Norman
Steven J. Norberg
Lisbeth A. Guethlein
Neda Nemat-Gorgani
Thomas Royce
Emily E. Wroblewski Tamsen Dunn Tobias Mann Claudia Alicata Jill A. Hollenbach Weihua Chang Melissa Shults Won
... [+7 authors] ...,
Kevin L. Gunderson
Laurent Abi-Rached
Mostafa Ronaghi
Peter Parham

First Published March 30, 2017

Pangolin genomes and the evolution of mammalian scales and immunity

Siew Woh Choo
Mike Rayko
Tze King Tan
Ranjeev Hari
Aleksey Komissarov
Wei Yee Wee Andrey A. Yurchenko Sergey Kliver Gaik Tamazian Agostinho Antunes Richard K. Wilson Wesley C. Warren Klaus-Peter Koepfli Patrick Minx Ksenia Krasheninnikova Antoinette Kotze Desire L. Dalton Elaine Vermaak Ian C. Paterson Pavel Dobrynin Frankie Thomas Sitam Jeffrine J. Rovie-Ryan Warren E. Johnson Aini Mohamed Yusoff Shu-Jin Luo Kayal Vizi Karuppannan Gang Fang Deyou Zheng
... [+23 authors] ...,
Mark B. Gerstein
Leonard Lipovich
Stephen J. O'Brien
Guat Jah Wong

First Published August 10, 2016

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

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