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Cell Genomics|August 23, 2025
LINE-1 retrotransposons mediate cis-acting transcriptional control in human pluripotent stem cells and regulate early brain developmentAnita Adami, Raquel Garza, Patricia Gerdes, et al.Journal of Medical Genetics|October 15, 2022
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, et al.Orphanet Journal of Rare Diseases|February 12, 2020
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrumRoser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, et al.Biorxiv : the Preprint Server for Biology|December 19, 2025
Retroviral insertions contributed to the divergence of human and chimpanzee brainsPatricia Gerdes, Ofelia Karlsson, Raquel Garza, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.Pageof 2