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Nucleic Acids Research|August 18, 2025
Internal ribosome entry sites enhance translation in trans in antisense non-coding SINEUP and circular RNAsSabrina D'Agostino, Abraham Tettey-Matey, Massimiliano Volpe, et al.Cell Reports|September 15, 2021
The prolyl-isomerase PIN1 is essential for nuclear Lamin-B structure and function and protects heterochromatin under mechanical stressFrancesco Napoletano, Gloria Ferrari Bravo, Ilaria Anna Pia Voto, et al.NPJ Genomic Medicine|February 2, 2026
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from ItalyGiovanni Spirito, Sara Trova, Gaia Treves, et al.American Journal of Human Genetics|November 13, 2020
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal NeurodevelopmentCatherine Rodger, Elisabetta Flex, Rachel J Allison, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiencyLeyla Akin, Karine Rizzoti, Louise C Gregory, et al.Plos One|July 9, 2025
Rationale and study protocol of the MAMELI Cohort study (Mapping the Methylation of repetitive elements to track the Exposome effects on health: the city of Legnano as a Living lab)Valentina Bollati, Federica Rota, Laura Dioni, et al.American Journal of Human Genetics|February 22, 2024
De novo variants in DENND5B cause a neurodevelopmental disorderMarcello Scala, Valeria Tomati, Matteo Ferla, et al.Genome Research|June 24, 2003
Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopediaPiero Carninci, Kazunori Waki, Toshiyuki Shiraki, et al.Nature Genetics|April 29, 2006
Genome-wide analysis of mammalian promoter architecture and evolutionPiero Carninci, Albin Sandelin, Boris Lenhard, et al.Nature Medicine|April 10, 2021
Actionable druggable genome-wide Mendelian randomization identifies repurposing opportunities for COVID-19Liam Gaziano, Claudia Giambartolomei, Alexandre C Pereira, et al.Pageof 15