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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

Corrigendum

C. elegans and human cancers" > Corrigendum: Mutational signatures of DNA mismatch repair deficiency in C. elegans and human cancers

Bettina Meier
Nadezda V. Volkova
Ye Hong
Pieta Schofield
Peter J. Campbell
Moritz Gerstung
Anton Gartner

First Published September 3, 2019

Research

C. elegans and human cancers" > Mutational signatures of DNA mismatch repair deficiency in C. elegans and human cancers

Bettina Meier
Nadezda V. Volkova
Ye Hong
Pieta Schofield
Peter J. Campbell
Moritz Gerstung
Anton Gartner

First Published April 10, 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

Yeast genetic interaction screen of human genes associated with amyotrophic lateral sclerosis: identification of MAP2K5 kinase as a potential drug target

Myungjin Jo
Ah Young Chung
Nozomu Yachie
Minchul Seo
Hyejin Jeon
Youngpyo Nam Yeojin Seo Eunmi Kim Quan Zhong
... [+4 authors] ...,
Marc Vidal
Hae Chul Park
Frederick P. Roth
Kyoungho Suk

First Published June 8, 2017

Corrigendum

Corrigendum: Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

Young Seok Ju
Jose M.C. Tubio
William Mifsud
Beiyuan Fu
Helen R. Davies
Manasa Ramakrishna Yilong Li Lucy Yates Gunes Gundem Patrick S. Tarpey Sam Behjati Elli Papaemmanuil Sancha Martin Anthony Fullam Moritz Gerstung Jyoti Nangalia Anthony R. Green Carlos Caldas Åke Borg Andrew Tutt Ming Ta Michael Lee Laura J. van't Veer Benita K.T. Tan Samuel Aparicio Paul N. Span John W.M. Martens Stian Knappskog Anne Vincent-Salomon Anne-Lise Børresen-Dale Jórunn Erla Eyfjörd Ola Myklebost Adrienne M. Flanagan Christopher Foster David E. Neal Colin Cooper Rosalind Eeles G. Steven Bova Sunil R. Lakhani Christine Desmedt Gilles Thomas Andrea L. Richardson Colin A. Purdie Alastair M. Thompson Ultan McDermott
... [+39 authors] ...,
Fengtang Yang
Serena Nik-Zainal
Peter J. Campbell
Michael R. Stratton

First Published May 2, 2016

Method

An extended set of yeast-based functional assays accurately identifies human disease mutations

Song Sun
Fan Yang
Guihong Tan
Michael Costanzo
Rose Oughtred
Jodi Hirschman Chandra L. Theesfeld Pritpal Bansal Nidhi Sahni Song Yi Analyn Yu Tanya Tyagi Cathy Tie David E. Hill Marc Vidal
... [+10 authors] ...,
Brenda J. Andrews
Charles Boone
Kara Dolinski
Frederick P. Roth

First Published March 14, 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

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Your search for returned 52 results

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)

Corrigendum

C. elegans and human cancers" > Corrigendum: Mutational signatures of DNA mismatch repair deficiency in C. elegans and human cancers

Research

C. elegans and human cancers" > Mutational signatures of DNA mismatch repair deficiency in C. elegans and human cancers

Research

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

Research

Yeast genetic interaction screen of human genes associated with amyotrophic lateral sclerosis: identification of MAP2K5 kinase as a potential drug target

Corrigendum

Corrigendum: Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

Method

An extended set of yeast-based functional assays accurately identifies human disease mutations

Research

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

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Your search for returned 52 results

Research

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In memoriam

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Research

Corrigendum

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