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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

Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals

  • Huixin Xu
  • Qi Zhen
  • Mingzhou Bai
  • Lin Fang
  • Yong Zhang
  • Bao Li Huiyao Ge Sunjin Moon Weiwei Chen Wenqing Fu Qiongqiong Xu Yuwen Zhou Yafeng Yu Long Lin Liang Yong Tao Zhang Shirui Chen Siyang Liu Hui Zhang Ruoyan Chen Lu Cao Yuanwei Zhang Ruixue Zhang Huanjie Yang
  • ... [+19 authors] ...,
  • Xia Hu
  • Joshua M. Akey
  • Xin Jin
  • Liangdan Sun
  • First Published June 21, 2021
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

Arabidopsis thaliana" > Massive variation of short tandem repeats with functional consequences across strains of Arabidopsis thaliana

  • Maximilian O. Press
  • Rajiv C. McCoy
  • Ashley N. Hall
  • Joshua M. Akey
  • Christine Queitsch
  • First Published July 3, 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

cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis" > Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis

  • Fan Yang
  • Jiebiao Wang
  • Brandon L. Pierce
  • Lin S. Chen
  • François Aguet
  • Kristin G. Ardlie Beryl B. Cummings Ellen T. Gelfand Gad Getz Kane Hadley Robert E. Handsaker Katherine H. Huang Seva Kashin Konrad J. Karczewski Monkol Lek Xiao Li Daniel G. MacArthur Jared L. Nedzel Duyen T. Nguyen Michael S. Noble Ayellet V. Segrè Casandra A. Trowbridge Taru Tukiainen Nathan S. Abell Brunilda Balliu Ruth Barshir Omer Basha Alexis Battle Gireesh K. Bogu Andrew Brown Christopher D. Brown Stephane E. Castel Lin S. Chen Colby Chiang Donald F. Conrad Nancy J. Cox Farhan N. Damani Joe R. Davis Olivier Delaneau Emmanouil T. Dermitzakis Barbara E. Engelhardt Eleazar Eskin Pedro G. Ferreira Laure Frésard Eric R. Gamazon Diego Garrido-Martín Ariel D.H. Gewirtz Genna Gliner Michael J. Gloudemans Roderic Guigo Ira M. Hall Buhm Han Yuan He Farhad Hormozdiari Cedric Howald Hae Kyung Im Brian Jo Eun Yong Kang Yungil Kim Sarah Kim-Hellmuth Tuuli Lappalainen Gen Li Xin Li Boxiang Liu Serghei Mangul Mark I. McCarthy Ian C. McDowell Pejman Mohammadi Jean Monlong Stephen B. Montgomery Manuel Muñoz-Aguirre Anne W. Ndungu Dan L. Nicolae Andrew B. Nobel Meritxell Oliva Halit Ongen John J. Palowitch Nikolaos Panousis Panagiotis Papasaikas YoSon Park Princy Parsana Anthony J. Payne Christine B. Peterson Jie Quan Ferran Reverter Chiara Sabatti Ashis Saha Michael Sammeth Alexandra J. Scott Andrey A. Shabalin Reza Sodaei Matthew Stephens Barbara E. Stranger Benjamin J. Strober Jae Hoon Sul Emily K. Tsang Sarah Urbut Martijn van de Bunt Gao Wang Xiaoquan Wen Fred A. Wright Hualin S. Xi Esti Yeger-Lotem Zachary Zappala Judith B. Zaugg Yi-Hui Zhou Joshua M. Akey Daniel Bates Joanne Chan Lin S. Chen Melina Claussnitzer Kathryn Demanelis Morgan Diegel Jennifer A. Doherty Andrew P. Feinberg Marian S. Fernando Jessica Halow Kasper D. Hansen Eric Haugen Peter F. Hickey Lei Hou Farzana Jasmine Ruiqi Jian Lihua Jiang Audra Johnson Rajinder Kaul Manolis Kellis Muhammad G. Kibriya Kristen Lee Jin Billy Li Qin Li Xiao Li Jessica Lin Shin Lin Sandra Linder Caroline Linke Yaping Liu Matthew T. Maurano Benoit Molinie Stephen B. Montgomery Jemma Nelson Fidencio J. Neri Meritxell Oliva Yongjin Park Brandon L. Pierce Nicola J. Rinaldi Lindsay F. Rizzardi Richard Sandstrom Andrew Skol Kevin S. Smith Michael P. Snyder John Stamatoyannopoulos Barbara E. Stranger Hua Tang Emily K. Tsang Li Wang Meng Wang Nicholas Van Wittenberghe Fan Wu Rui Zhang Concepcion R. Nierras Philip A. Branton Latarsha J. Carithers Ping Guan Helen M. Moore Abhi Rao Jimmie B. Vaught Sarah E. Gould Nicole C. Lockart Casey Martin Jeffery P. Struewing Simona Volpi Anjene M. Addington Susan E. Koester A. Roger Little Lori E. Brigham Richard Hasz Marcus Hunter Christopher Johns Mark Johnson Gene Kopen William F. Leinweber John T. Lonsdale Alisa McDonald Bernadette Mestichelli Kevin Myer Brian Roe Michael Salvatore Saboor Shad Jeffrey A. Thomas Gary Walters Michael Washington Joseph Wheeler Jason Bridge Barbara A. Foster Bryan M. Gillard Ellen Karasik Rachna Kumar Mark Miklos Michael T. Moser Scott D. Jewell Robert G. Montroy Daniel C. Rohrer Dana R. Valley David A. Davis Deborah C. Mash Anita H. Undale Anna M. Smith David E. Tabor Nancy V. Roche Jeffrey A. McLean Negin Vatanian Karna L. Robinson Leslie Sobin Mary E. Barcus Kimberly M. Valentino Liqun Qi Steven Hunter Pushpa Hariharan Shilpi Singh Ki Sung Um Takunda Matose Maria M. Tomaszewski Laura K. Barker Maghboeba Mosavel Laura A. Siminoff Heather M. Traino Paul Flicek Thomas Juettemann Magali Ruffier Dan Sheppard Kieron Taylor Stephen J. Trevanion Daniel R. Zerbino Brian Craft Mary Goldman Maximilian Haeussler W. James Kent Christopher M. Lee
  • ... [+234 authors] ...,
  • Benedict Paten
  • Kate R. Rosenbloom
  • John Vivian
  • Jingchun Zhu
  • First Published October 11, 2017
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