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Science (New York, N.Y.)|February 21, 2015
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathwaysElizabeth T Cirulli, Brittany N Lasseigne, Slavé Petrovski, et al.American Journal of Human Genetics|December 31, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotypeSusan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, 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.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 2, 2004
Genome sequence of the Brown Norway rat yields insights into mammalian evolutionRichard A Gibbs, George M Weinstock, Michael L Metzker, et al.Nature|June 16, 2007
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project, Ewan Birney, John A Stamatoyannopoulos, et al.Pageof 38