London Health Sciences Centre

European Association of Urology Guidelines on Muscle-invasive and Metastatic Bladder Cancer: Summary of the 2025 Guidelines (2025) van der Heijden AG, Bruins HM, Carrion A, Cathomas R, Compérat E, Dimitropoulos K, Efstathiou JA, et al. Journal article Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome (2024) Rots D, Bouman A, Yamada A, Levy M, Dingemans AJ, de Vries BB, Ruiterkamp-Versteeg M, et al. Journal article DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants (2024) van der Laan L, Lauffer P, Rooney K, Silva A, Haghshenas S, Relator R, Levy MA, et al. Journal article 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 The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation (2024) Bosch E, Güse E, Kirchner P, Winterpacht A, Walther M, Alders M, Kerkhof J, et al. Journal article Epigenomic and phenotypic characterization of DEGCAGS syndrome (2024) Karimi K, Weis D, Aukrust I, Hsieh TC, Horackova M, Paulsen J, Mendoza Londono R, 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 Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors (2022) Alves CA, Sherbini O, D’Arco F, Steel D, Kurian MA, Radio FC, Ferrero GB, et al. Journal article Delineating the clinical spectrum due to heterozygous TRAF7 missense mutations: A series of 38 cases (2019) Amiel J, Mishra K, Castilla L, Selmer KK, Barak T, Yang S, Blanco-Sanchez B, et al. Conference contribution Epilepsy as a Network Disorder (2): What can we learn from other network disorders such as dementia and schizophrenia, and what are the implications for translational research? (2018) Scharfman HE, Kanner AM, Friedman A, Blümcke I, Crocker CE, Cendes F, Diaz-Arrastia R, et al. Journal article