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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
Research

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

  • Haloom Rafehi
  • Liam G. Fearnley
  • Justin Read
  • Penny Snell
  • Kayli C. Davies
  • Liam Scott Greta Gillies Genevieve C. Thompson Tess A. Field Aleena Eldo Simon Bodek Ernest Butler Luke Chen John Drago Himanshu Goel Anna Hackett G. Michael Halmagyi Andrew Hannaford Katya Kotschet Kishore R. Kumar Smitha Kumble Matthew Lee-Archer Abhishek Malhotra Mark Paine Michael Poon Kate Pope Katrina Reardon Steven Ring Anne Ronan Matthew Silsby Renee Smyth Chloe Stutterd Mathew Wallis John Waterston Thomas Wellings Kirsty West Christine Wools Kathy H.C. Wu
  • ... [+33 authors] ...,
  • David J. Szmulewicz
  • Martin B. Delatycki
  • Melanie Bahlo
  • Paul J. Lockhart
  • First Published February 27, 2025
Method

Analyzing rare mutations in metagenomes assembled using long and accurate reads

  • Marcus W. Fedarko
  • Mikhail Kolmogorov
  • Pavel A. Pevzner
  • First Published November 23, 2022
Method

Fast and accurate mapping of long reads to complete genome assemblies with VerityMap

  • Andrey V. Bzikadze
  • Alla Mikheenko
  • Pavel A. Pevzner
  • First Published November 15, 2022
Method

Automated annotation of human centromeres with HORmon

  • Olga Kunyavskaya
  • Tatiana Dvorkina
  • Andrey V. Bzikadze
  • Ivan A. Alexandrov
  • Pavel A. Pevzner
  • First Published May 11, 2022
Method

Variations in antibody repertoires correlate with vaccine responses

  • Yana Safonova
  • Sung Bong Shin
  • Luke Kramer
  • James Reecy
  • Corey T. Watson
  • Timothy P.L. Smith
  • Pavel A. Pevzner
  • First Published March 31, 2022
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

V(DD)J recombination is an important and evolutionarily conserved mechanism for generating antibodies with unusually long CDR3s

  • Yana Safonova
  • Pavel A. Pevzner
  • First Published September 18, 2020
Method

Plasmid detection and assembly in genomic and metagenomic data sets

  • Dmitry Antipov
  • Mikhail Raiko
  • Alla Lapidus
  • Pavel A. Pevzner
  • First Published May 2, 2019
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