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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

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

Resource

Hackathons as a means of accelerating scientific discoveries and knowledge transfer

Amel Ghouila
Geoffrey Henry Siwo
Jean-Baka Domelevo Entfellner
Sumir Panji
Katrina A. Button-Simons
Sage Zenon Davis Faisal M. Fadlelmola Michael T. Ferdig Nicola Mulder Taoufik Bensellak Anita Ghansah Kais Ghedira Ashley Gritzman Itunuoluwa Isewon Ali Kishk Ahmed Moussa Cheikh Loucoubar Patrick Musicha Meenal Pore
... [+14 authors] ...,
David Moinina Sengeh
Darlington Shingirirai Mapiye
Pavan Kumar Rallabandi
Melvin Varughese

First Published April 12, 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

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

Resource

H3ABioNet, a sustainable pan-African bioinformatics network for human heredity and health in Africa

Nicola J. Mulder
Ezekiel Adebiyi
Raouf Alami
Alia Benkahla
James Brandful
Seydou Doumbia Dean Everett Faisal M. Fadlelmola Fatima Gaboun Simani Gaseitsiwe Hassan Ghazal Scott Hazelhurst Winston Hide Azeddine Ibrahimi Yasmina Jaufeerally Fakim C. Victor Jongeneel Fourie Joubert Samar Kassim Jonathan Kayondo Judit Kumuthini Sylvester Lyantagaye Julie Makani Ahmed Mansour Alzohairy Daniel Masiga Ahmed Moussa Oyekanmi Nash Odile Ouwe Missi Oukem-Boyer Ellis Owusu-Dabo Sumir Panji Hugh Patterton Fouzia Radouani Khalid Sadki Fouad Seghrouchni Özlem Tastan Bishop Nicki Tiffin Nzovu Ulenga Marion Adebiyi Azza E. Ahmed Rehab I. Ahmed Maaike Alearts Mohamed Alibi Shaun Aron Shakuntala Baichoo Hocine Bendou Gerrit Botha David Brown Emile Chimusa Alan Christoffels Jennifer Cornick Jean-Baka Domelevo Entfellner Chris Fields Anne Fischer Junaid Gamieldien Kais Ghedira Amel Ghouila Shannan Ho Sui Itunuoluwa Isewon Raphael Isokpehi Mahjoubeh Jalali Sefid Dashti Arox Kamng'ona Radhika S. Khetani Anmol Kiran Benard Kulohoma Benjamin Kumwenda Dan Lapine Liudmila Sergeevna Mainzer Suresh Maslamoney Mamana Mbiyavanga Ayton Meintjes Flora Elias Mlyango Bruno Mmbando Somia A. Mohammed Phelelani Mpangase Chisomo Msefula Siana Nkya Mtatiro Dunfunk Mugutso Zahra Mungloo-Dilmohammud Patrick Musicha Victoria Nembaware Victor Chukwudi Osamor Jelili Oyelade Gloria Rendon Gustavo A. Salazar Samson Pandam Salifu
... [+79 authors] ...,
Raphael Sangeda
Oussema Souiai
Peter Van Heusden
Mamadou Wele

First Published December 1, 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

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

Research

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

M. Reza Sailani
Periklis Makrythanasis
Armand Valsesia
Federico A. Santoni
Samuel Deutsch
Konstantin Popadin Christelle Borel Eugenia Migliavacca Andrew J. Sharp Genevieve Duriaux Sail Emilie Falconnet Kelly Rabionet Clara Serra-Juhé Stefano Vicari Daniela Laux Yann Grattau Guy Dembour Andre Megarbane Renaud Touraine Samantha Stora Sofia Kitsiou Helena Fryssira Chariklia Chatzisevastou-Loukidou Emmanouel Kanavakis Giuseppe Merla Damien Bonnet
... [+21 authors] ...,
Luis A. Pérez-Jurado
Xavier Estivill
Jean M. Delabar
Stylianos E. Antonarakis

First Published June 19, 2013

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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)

Resource

Hackathons as a means of accelerating scientific discoveries and knowledge transfer

Research

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

Research

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

Resource

H3ABioNet, a sustainable pan-African bioinformatics network for human heredity and health in Africa

Research

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

Resource

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

Research

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

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Your search for returned 28 results

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