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Nature Genetics|February 25, 2022
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibilityJulien Barc, Rafik Tadros, Charlotte Glinge, et al.
Science (New York, N.Y.)|January 19, 2023
Heritable defects in telomere and mitotic function selectively predispose to sarcomasMandy L Ballinger, Swetansu Pattnaik, Piyushkumar A Mundra, et al.
Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
The European Respiratory Journal|June 14, 2014
Integrated care pathways for airway diseases (AIRWAYS-ICPs), , , et al.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature|April 3, 2010
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls, Nick Craddock, Matthew E Hurles, et al.
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