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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

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

Stylianos E. Antonarakis

First Published March 31, 2022

Haig H. Kazazian, Jr. (1937–2022)

Stylianos E. Antonarakis
Stuart H. Orkin

First Published March 21, 2022

Complex mosaic structural variations in human fetal brains

Shobana Sekar
Livia Tomasini
Christos Proukakis
Taejeong Bae
Logan Manlove
Yeongjun Jang Soraya Scuderi Bo Zhou Maria Kalyva Anahita Amiri Jessica Mariani
... [+6 authors] ...,
Fritz J. Sedlazeck
Alexander E. Urban
Flora M. Vaccarino
Alexej Abyzov

First Published October 29, 2020

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

TERT aberrations in acral melanoma" > Integrated genomic analyses reveal frequent TERT aberrations in acral melanoma

Winnie S. Liang
William Hendricks
Jeffrey Kiefer
Jessica Schmidt
Shobana Sekar
John Carpten David W. Craig Jonathan Adkins Lori Cuyugan Zarko Manojlovic Rebecca F. Halperin Adrienne Helland Sara Nasser Christophe Legendre Laurence H. Hurley Karthigayini Sivaprakasam Douglas B. Johnson Holly Crandall Klaus J. Busam Victoria Zismann Valerie Deluca Jeeyun Lee
... [+17 authors] ...,
Aleksandar Sekulic
Charlotte E. Ariyan
Jeffrey Sosman
Jeffrey Trent

First Published April 3, 2017

Callithrix jacchus genome" > Discovery of a new repeat family in the Callithrix jacchus genome

Miriam K. Konkel
Brygg Ullmer
Erika L. Arceneaux
Sreeja Sanampudi
Sarah A. Brantley
Robert Hubley
Arian F.A. Smit
Mark A. Batzer

First Published February 25, 2016

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

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

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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