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PAPER Megat S, Marques C, Hernán-Godoy M, Sellier C, Stuart-Lopez G, Dirrig-Grosch S, Gorin C, Brunet A, Fischer M, Keime C, Kessler P, Mendoza-Parra MA, Zwamborn RA, Veldink JH, Scholz SW, Ferrucci L, Ludolph A, Traynor B, Chio A, Dupuis L, Rouaux C

CREB3 gain of function variants protect against ALS.

Nat Commun. 2025 Mar 26;16(1):2942. PubMed.

PAPER Cheerie D, Meserve MM, Beijer D, Kaiwar C, Newton L, Taylor Tavares AL, Verran AS, Sherrill E, Leonard S, Sanders SJ, Blake E, Elkhateeb N, Gandhi A, Liang NS, Morgan JT, Verwillow A, Verheijen J, Giles A, Williams S, Chopra M, Croft L, Dafsari HS, Davidson AE, Friedman J, Gregor A, Haque B, Lechner R, Montgomery KA, Ryten M, Schober E, Siegel G, Sullivan PJ, Whittle EF, Zardetto B, Yu TW, Synofzik M, Aartsma-Rus A, Costain G, Lauffer MC, N=1 Collaborative

Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.

Am J Hum Genet. 2025 Mar 21; Epub 2025 Mar 21 PubMed.

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