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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
Method

Resolving the chromatin impact of mosaic variants with targeted Fiber-seq

  • Stephanie C. Bohaczuk
  • Zachary J. Amador
  • Chang Li
  • Benjamin J. Mallory
  • Elliott G. Swanson
  • Jane Ranchalis Mitchell R. Vollger Katherine M. Munson Tom Walsh
  • ... [+4 authors] ...,
  • Morgan O. Hamm
  • Yizi Mao
  • Andre Lieber
  • Andrew B. Stergachis
  • First Published December 9, 2024
Resource

An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes

  • Chong Li
  • Marc Jan Bonder
  • Sabriya Syed
  • Matthew Jensen
  • Mark B. Gerstein
  • Michael C. Zody Mark J.P. Chaisson Michael E. Talkowski Tobias Marschall
  • ... [+4 authors] ...,
  • Jan O. Korbel
  • Evan E. Eichler
  • Charles Lee
  • Xinghua Shi
  • First Published December 5, 2024
Method

fibertools" > DNA-m6A calling and integrated long-read epigenetic and genetic analysis with fibertools

  • Anupama Jha
  • Stephanie C. Bohaczuk
  • Yizi Mao
  • Jane Ranchalis
  • Benjamin J. Mallory
  • Alan T. Min Morgan O. Hamm Elliott Swanson Danilo Dubocanin Connor Finkbeiner Tony Li
  • ... [+6 authors] ...,
  • Dale Whittington
  • William Stafford Noble
  • Andrew B. Stergachis
  • Mitchell R. Vollger
  • First Published June 7, 2024
Method

Assessing and mitigating privacy risks of sparse, noisy genotypes by local alignment to haplotype databases

  • Prashant S. Emani
  • Maya N. Geradi
  • Gamze Gürsoy
  • Monica R. Grasty
  • Andrew Miranker
  • Mark B. Gerstein
  • First Published December 14, 2023
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

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

Dynamic RNA–protein interactions underlie the zebrafish maternal-to-zygotic transition

  • Vladimir Despic
  • Mario Dejung
  • Mengting Gu
  • Jayanth Krishnan
  • Jing Zhang
  • Lydia Herzel
  • ... [+1 authors] ...,
  • Korinna Straube
  • Mark B. Gerstein
  • Falk Butter
  • Karla M. Neugebauer
  • First Published April 5, 2017
Research

Pangolin genomes and the evolution of mammalian scales and immunity

  • Siew Woh Choo
  • Mike Rayko
  • Tze King Tan
  • Ranjeev Hari
  • Aleksey Komissarov
  • Wei Yee Wee Andrey A. Yurchenko Sergey Kliver Gaik Tamazian Agostinho Antunes Richard K. Wilson Wesley C. Warren Klaus-Peter Koepfli Patrick Minx Ksenia Krasheninnikova Antoinette Kotze Desire L. Dalton Elaine Vermaak Ian C. Paterson Pavel Dobrynin Frankie Thomas Sitam Jeffrine J. Rovie-Ryan Warren E. Johnson Aini Mohamed Yusoff Shu-Jin Luo Kayal Vizi Karuppannan Gang Fang Deyou Zheng
  • ... [+23 authors] ...,
  • Mark B. Gerstein
  • Leonard Lipovich
  • Stephen J. O'Brien
  • Guat Jah Wong
  • First Published August 10, 2016
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