University Medical Centre Utrecht (UMC Utrecht)

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article A Personalized Patient Preference Predictor for Substituted Judgments in Healthcare: Technically Feasible and Ethically Desirable (2024) Earp BD, Porsdam Mann S, Allen J, Salloch S, Suren V, Jongsma K, Braun M, et al. Journal article Extra-abdominal and intra-abdominal FET::CREM fusion mesenchymal neoplasms: comparative clinicopathological study of 9 new cases further supporting a distinct potentially aggressive sarcoma and report of novel sites (2024) Agaimy A, Blakely M, Breimer GE, Hölsken A, Koppes SA, Meidenbauer N, Rijken JA, et al. Journal article ARID1B-related disorder in 87 adults: Natural history and self-sustainability (2024) van der Sluijs PJ, Gösgens M, Dingemans AJ, Striano P, Riva A, Mignot C, Faudet A, et al. Journal article Somatic variant analysis of resected brain tissue in epilepsy surgery patients (2024) Sanders MW, Koeleman BP, Brilstra EH, Jansen FE, Baldassari S, Chipaux M, Sim NS, et al. Journal article FGFR3::TACC3 fusions in head and neck carcinomas: a study of nine cases highlighting phenotypic heterogeneity, frequent HPV association, and a morphologically distinct subset in favor of a putative entity (2024) Agaimy A, Antonescu CR, Bell D, Breimer GE, Dermawan JK, Kester LA, Laco J, et al. Journal article Opportunities and challenges of social media communication in radiology from the EUSOBI young club: the radiologist perspective (2024) Baykara Ulusan M, Dietzel M, Clauser P, Pijnappel R, Giannotti E Journal article International consensus on the management of large (≥20 mm) colorectal laterally spreading tumors: World Endoscopy Organization Delphi study (2024) Djinbachian R, Rex DK, Chiu HM, Fukami N, Aihara H, Bastiaansen BA, Bechara R, et al. Journal article Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions (2024) Dareng EO, Coetzee SG, Tyrer JP, Peng PC, Rosenow W, Chen S, Davis BD, et al. Journal article Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (2024) Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, et al. Journal article