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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

AK005651) and contributes to type 1 diabetes susceptibility" > A recombination hotspot leads to sequence variability within a novel gene (AK005651) and contributes to type 1 diabetes susceptibility

  • Iris K.L. Tan
  • Leanne Mackin
  • Nancy Wang
  • Anthony T. Papenfuss
  • Colleen M. Elso
  • Michelle P. Ashton Fiona Quirk Belinda Phipson Melanie Bahlo
  • ... [+4 authors] ...,
  • Terence P. Speed
  • Gordon K. Smyth
  • Grant Morahan
  • Thomas C. Brodnicki
  • First Published November 4, 2010
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