Royal Devon & Exeter NHS Foundation Trust

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations (2024) Peron A, D’Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, et al. Journal article Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice (2023) Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, et al. Journal article Long-term efficacy and safety of renal denervation in the presence of antihypertensive drugs (SPYRAL HTN-ON MED): a randomised, sham-controlled trial (2022) Mahfoud F, Kandzari DE, Kario K, Townsend RR, Weber MA, Schmieder R, Tsioufis K, et al. Journal article De novo missense variants in FBXO11 alter its protein expression and subcellular localization (2022) Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, et al. Journal article, Original article A survey among physicians in surgery and anesthesiology departments after the first surge of SARS-CoV-2 infections in Germany Preparing for further challenges ahead (2022) Grishina A, Link F, Arend A, Kleemann F, Tober-Lau P, Andree D, Muenn F, et al. Journal article SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile (2022) Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, et al. Journal article Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss (2021) Richard EM, Bakhtiari S, Marsh AP, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, et al. Journal article Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior (2021) Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, et al. Journal article DLG4-related synaptopathy: a new rare brain disorder (2021) Rodriguez-Palmero A, Boerrigter MM, Gomez-Andres D, Aldinger KA, Marcos-Alcalde I, Popp B, Everman DB, et al. Journal article Renal Denervation for Treating Hypertension: Current Scientific and Clinical Evidence (2019) Weber MA, Mahfoud F, Schmieder R, Kandzari DE, Tsioufis KP, Townsend RR, Kario K, et al. Journal article, Review article