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Blood|December 21, 2018
The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphomaRabea Wagener, Julian Seufert, Francesco Raimondi, et al.Acta Neuropathologica Communications|November 10, 2023
Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIbJonas Honke, Lucas Hoffmann, Roland Coras, et al.Human Molecular Genetics|January 25, 2015
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease geneSolaf M Elsayed, Jennifer B Phillips, Raoul Heller, et al.Brain : a Journal of Neurology|June 27, 2022
Mutations in TAF8 cause a neurodegenerative disorderKeit Men Wong, Wayne M Jepsen, Stephanie Efthymiou, et al.American Journal of Human Genetics|August 13, 2013
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosumLina Basel-Vanagaite, Tova Hershkovitz, Eli Heyman, et al.Nature Communications|November 30, 2024
Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFRChristian M Boßelmann, Costin Leu, Tobias Brünger, et al.Human Genetics|September 21, 2021
Biallelic variants in YRDC cause a developmental disorder with progeroid featuresJulia Schmidt, Jonas Goergens, Tatiana Pochechueva, et al.Blood|March 10, 2016
Thrombocytopenia is associated with a dysregulated host response in critically ill sepsis patientsTheodora A M Claushuis, Lonneke A van Vught, Brendon P Scicluna, et al.Molecular Cell|May 1, 2018
HMGB2 Loss upon Senescence Entry Disrupts Genomic Organization and Induces CTCF Clustering across Cell TypesAnne Zirkel, Milos Nikolic, Konstantinos Sofiadis, et al.JAMA Network Open|April 9, 2024
Olaparib Addition to Maintenance Bevacizumab Therapy in Ovarian Carcinoma With BRCA-Like Genomic AberrationsPhilip C Schouten, Sandra Schmidt, Kerstin Becker, et al.Pageof 52