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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
In memoriam

C. Thomas Caskey (1938–2022)

  • Richard A. Gibbs
  • Aravinda Chakravarti
  • Evan E. Eichler
  • Eric D. Green
  • Richard M. Myers
  • Anne C. Ferguson-Smith
  • Kateryna D. Makova
  • Hillary E. Sussman
  • First Published February 17, 2022
In memoriam

Deborah A. Nickerson (1954 –2021)

  • Aravinda Chakravarti
  • Evan E. Eichler
  • Richard A. Gibbs
  • Eric D. Green
  • Richard M. Myers
  • Hillary E. Sussman
  • First Published January 24, 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
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