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Showing 1–4 of 4 results

Advanced filters: Author: Nazem Atassi Clear advanced filters

A framework for sharing of clinical and genetic data for precision medicine applications

A secure framework that harmonizes storage and querying of clinical and genetic data using blockchain technology was developed to support combined genotype–phenotype queries, improving transparency into how and when health information is used.

Ahmed Elhussein
Ulugbek Baymuradov
Gamze Gürsoy
ResearchOpen Access03 Sept 2024
Nature Medicine

Volume: 30, P: 3578-3589
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Risk variants for ALS and FTD in the synaptic gene UNC13A increase the expression of an UNC13A cryptic exon in neurons with TDP-43 depletion.

Anna-Leigh Brown
Oscar G. Wilkins
Pietro Fratta
ResearchOpen Access23 Feb 2022
Nature

Volume: 603, P: 131-137
Author Correction: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Anna-Leigh Brown
Oscar G. Wilkins
Pietro Fratta
Amendments and CorrectionsOpen Access18 Jun 2024
Nature

Volume: 631, P: E7
Stratification of amyotrophic lateral sclerosis patients: a crowdsourcing approach

Robert Kueffner
Neta Zach
Gustavo Stolovitzky
ResearchOpen Access24 Jan 2019
Scientific Reports

Volume: 9, P: 1-14