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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

Resource

Haplotype-resolved 3D chromatin architecture of the hybrid pig

Yu Lin
Jing Li
Yiren Gu
Long Jin
Jingyi Bai
Jiaman Zhang Yujie Wang Pengliang Liu Keren Long Mengnan He Diyan Li Can Liu Ziyin Han Yu Zhang Xiaokai Li Bo Zeng Lu Lu Fanli Kong Ying Sun Yongliang Fan Xun Wang Tao Wang An'an Jiang Jideng Ma Linyuan Shen Li Zhu Yanzhi Jiang Guoqing Tang Xiaolan Fan Qingyou Liu Hua Li Jinyong Wang Li Chen
... [+28 authors] ...,
Liangpeng Ge
Xuewei Li
Qianzi Tang
Mingzhou Li

First Published March 13, 2024

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

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

Resource

Comprehensive variation discovery and recovery of missing sequence in the pig genome using multiple de novo assemblies

Mingzhou Li
Lei Chen
Shilin Tian
Yu Lin
Qianzi Tang
Xuming Zhou Diyan Li Carol K.L. Yeung Tiandong Che Long Jin Yuhua Fu Jideng Ma Xun Wang Anan Jiang Jing Lan Qi Pan Yingkai Liu Zonggang Luo Zongyi Guo Haifeng Liu Li Zhu Surong Shuai Guoqing Tang Jiugang Zhao Yanzhi Jiang Lin Bai Shunhua Zhang Miaomiao Mai Changchun Li Dawei Wang Yiren Gu Guosong Wang Hongfeng Lu Yan Li Haihao Zhu Zongwen Li Ming Li Vadim N. Gladyshev Zhi Jiang
... [+34 authors] ...,
Shuhong Zhao
Jinyong Wang
Ruiqiang Li
Xuewei Li

First Published September 19, 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

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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Your search for returned 49 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

Resource

Haplotype-resolved 3D chromatin architecture of the hybrid pig

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

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

Resource

Comprehensive variation discovery and recovery of missing sequence in the pig genome using multiple de novo assemblies

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

Research

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

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Your search for returned 49 results

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