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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

Complete avian malaria parasite genomes reveal features associated with lineage-specific evolution in birds and mammals

Ulrike Böhme
Thomas D. Otto
James A. Cotton
Sascha Steinbiss
Mandy Sanders
Samuel O. Oyola Antoine Nicot Sylvain Gandon Kailash P. Patra Colin Herd Ellen Bushell Katarzyna K. Modrzynska Oliver Billker
... [+8 authors] ...,
Joseph M. Vinetz
Ana Rivero
Chris I. Newbold
Matthew Berriman

First Published March 2, 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

Method

Quantitative insertion-site sequencing (QIseq) for high throughput phenotyping of transposon mutants

Iraad F. Bronner
Thomas D. Otto
Min Zhang
Kenneth Udenze
Chengqi Wang
Michael A. Quail
Rays H.Y. Jiang
John H. Adams
Julian C. Rayner

First Published May 10, 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

Research

Genomic analysis of the causative agents of coccidiosis in domestic chickens

Adam J. Reid
Damer P. Blake
Hifzur R. Ansari
Karen Billington
Hilary P. Browne
Josephine Bryant Matt Dunn Stacy S. Hung Fumiya Kawahara Diego Miranda-Saavedra Tareq B. Malas Tobias Mourier Hardeep Naghra Mridul Nair Thomas D. Otto Neil D. Rawlings Pierre Rivailler Alejandro Sanchez-Flores Mandy Sanders Chandra Subramaniam Yea-Ling Tay Yong Woo Xikun Wu Bart Barrell Paul H. Dear Christian Doerig Arthur Gruber Alasdair C. Ivens John Parkinson Marie-Adèle Rajandream Martin W. Shirley
... [+26 authors] ...,
Kiew-Lian Wan
Matthew Berriman
Fiona M. Tomley
Arnab Pain

First Published July 11, 2014

Resource

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

Federico A. Santoni
Periklis Makrythanasis
Sergey Nikolaev
Michel Guipponi
Daniel Robyr
Armand Bottani
Stylianos E. Antonarakis

First Published January 3, 2014

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Your search for returned 30 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)

Research

Complete avian malaria parasite genomes reveal features associated with lineage-specific evolution in birds and mammals

Research

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

Method

Quantitative insertion-site sequencing (QIseq) for high throughput phenotyping of transposon mutants

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

Research

Genomic analysis of the causative agents of coccidiosis in domestic chickens

Resource

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

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Your search for returned 30 results

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