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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
Method

A minimally destructive protocol for DNA extraction from ancient teeth

  • Éadaoin Harney
  • Olivia Cheronet
  • Daniel M. Fernandes
  • Kendra Sirak
  • Matthew Mah
  • Rebecca Bernardos Nicole Adamski Nasreen Broomandkhoshbacht Kimberly Callan Ann Marie Lawson Jonas Oppenheimer Kristin Stewardson Fatma Zalzala Alexandra Anders Francesca Candilio Mihai Constantinescu Alfredo Coppa Ion Ciobanu János Dani Zsolt Gallina Francesco Genchi Emese Gyöngyvér Nagy Tamás Hajdu Magdolna Hellebrandt Antónia Horváth Ágnes Király Krisztián Kiss Barbara Kolozsi Péter Kovács Kitti Köhler Michaela Lucci Ildikó Pap Sergiu Popovici Pál Raczky Angela Simalcsik Tamás Szeniczey Sergey Vasilyev
  • ... [+32 authors] ...,
  • Cristian Virag
  • Nadin Rohland
  • David Reich
  • Ron Pinhasi
  • First Published February 12, 2021
Corrigendum

Corrigendum: Human auditory ossicles as an alternative optimal source of ancient DNA

  • Kendra Sirak
  • Daniel Fernandes
  • Olivia Cheronet
  • Eadaoin Harney
  • Matthew Mah
  • Swapan Mallick Nadin Rohland Nicole Adamski Nasreen Broomandkhoshbacht Kimberly Callan Francesca Candilio Ann Marie Lawson Kirsten Mandl Jonas Oppenheimer Kristin Stewardson Fatma Zalzala Alexandra Anders Juraj Bartík Alfredo Coppa Tumen Dashtseveg Sándor Évinger Zdeněk Farkaš Tamás Hajdu Jamsranjav Bayarsaikhan Lauren McIntyre Vyacheslav Moiseyev Mercedes Okumura Ildikó Pap Michael Pietrusewsky Pál Raczky Alena Šefčáková Andrei Soficaru Tamás Szeniczey Béla Miklós Szőke Dennis Van Gerven
  • ... [+30 authors] ...,
  • Sergey Vasilyev
  • Lynne Bell
  • David Reich
  • Ron Pinhasi
  • First Published July 14, 2020
Method

Human auditory ossicles as an alternative optimal source of ancient DNA

  • Kendra Sirak
  • Daniel Fernandes
  • Olivia Cheronet
  • Eadaoin Harney
  • Matthew Mah
  • Swapan Mallick Nadin Rohland Nicole Adamski Nasreen Broomandkhoshbacht Kimberly Callan Francesca Candilio Ann Marie Lawson Kirsten Mandl Jonas Oppenheimer Kristin Stewardson Fatma Zalzala Alexandra Anders Juraj Bartík Alfredo Coppa Tumen Dashtseveg Sándor Évinger Zdeněk Farkaš Tamás Hajdu Jamsranjav Bayarsaikhan Lauren McIntyre Vyacheslav Moiseyev Mercedes Okumura Ildikó Pap Michael Pietrusewsky Pál Raczky Alena Šefčáková Andrei Soficaru Tamás Szeniczey Béla Miklós Szőke Dennis Van Gerven
  • ... [+30 authors] ...,
  • Sergey Vasilyev
  • Lynne Bell
  • David Reich
  • Ron Pinhasi
  • First Published February 25, 2020
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

Great ape Y Chromosome and mitochondrial DNA phylogenies reflect subspecies structure and patterns of mating and dispersal

  • Pille Hallast
  • Pierpaolo Maisano Delser
  • Chiara Batini
  • Daniel Zadik
  • Mariano Rocchi
  • Werner Schempp
  • Chris Tyler-Smith
  • Mark A. Jobling
  • First Published February 16, 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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