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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
ARTICLE

Gene Targeting of Desrt, a Novel ARID Class DNA-Binding Protein, Causes Growth Retardation and Abnormal Development of Reproductive Organs

  • Mireille H. Lahoud
  • Sika Ristevski
  • Deon J. Venter
  • Lars S. Jermiin
  • Ivan Bertoncello
  • Silva Zavarsek Sue Hasthorpe
  • ... [+2 authors] ...,
  • John Drago
  • David de Kretser
  • Paul J. Hertzog
  • Ismail Kola
  • First Published July 12, 2001
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