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Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder.

Francesca MagrinelliClarissa RoccaRoberto SimoneRiccardo Zenezini ChiozziZane JaunmuktaneNiccolò Emanuele MencacciMichele TinazziSandeep JayawantAndrea H NemethGerman DemidovHenry HouldenKailash P Bhatia
Published in: Movement disorders : official journal of the Movement Disorder Society (2022)
We identified a de novo exonic AluYa5 insertion causing NKX2-1-related disorder in SS/WES/WGS-negative cases, suggesting that MEI analysis of short-read sequencing data or targeted long-read sequencing could unmask the molecular diagnosis of unsolved MD cases. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Keyphrases
  • single molecule
  • single cell
  • randomized controlled trial
  • molecular dynamics
  • systematic review
  • drug delivery
  • loop mediated isothermal amplification
  • drug induced