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Nature Genetics|February 17, 2026
GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathyManon Boivin, Jiaxi Yu, Nobuyuki Eura, et al.Cancer Research|June 19, 2023
Mesenchymal-like Tumor Cells and Myofibroblastic Cancer-Associated Fibroblasts Are Associated with Progression and Immunotherapy Response of Clear Cell Renal Cell CarcinomaGuillaume Davidson, Alexandra Helleux, Yann A Vano, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|March 30, 2020
Constitutive Activation of RAS/MAPK Pathway Cooperates with Trisomy 21 and Is Therapeutically Exploitable in Down Syndrome B-cell LeukemiaAnouchka P Laurent, Aurélie Siret, Cathy Ignacimouttou, et al.Nature Communications|June 22, 2026
MiT fusions, TSC1-TSC2 divergence, and stem-like programs reveal distinct origins and vulnerabilities in PEComaJustine Gantzer, Xiaofan Lu, Céline Charon-Barra, et al.Science (New York, N.Y.)|September 1, 2022
GnRH replacement rescues cognition in Down syndromeMaria Manfredi-Lozano, Valerie Leysen, Michela Adamo, et al.Brain : a Journal of Neurology|June 26, 2026
RBMX functional retrocopy safeguards brain development in a species-dependent contextPierre Tilliole, Carolin Mattausch, Peggy Tilly, et al.Nature Communications|October 31, 2019
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3Rahel T Florian, Florian Kraft, Elsa Leitão, et al.American Journal of Human Genetics|November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disabilityAriane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.Pageof 3