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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
Research

Yeast genetic interaction screen of human genes associated with amyotrophic lateral sclerosis: identification of MAP2K5 kinase as a potential drug target

  • Myungjin Jo
  • Ah Young Chung
  • Nozomu Yachie
  • Minchul Seo
  • Hyejin Jeon
  • Youngpyo Nam Yeojin Seo Eunmi Kim Quan Zhong
  • ... [+4 authors] ...,
  • Marc Vidal
  • Hae Chul Park
  • Frederick P. Roth
  • Kyoungho Suk
  • First Published June 8, 2017
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