Great Ormond Street Hospital (GOSH)

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care (2018) Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, et al. Journal article De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder (2018) Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, et al. Journal article Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target (2018) Apps JR, Carreno G, Mario Gonzalez-Meljem J, Haston S, Guiho R, Cooper JE, Manshaei S, et al. Journal article Standardized computer-based organized reporting of EEG: SCORE - Second version (2017) Beniczky S, Aurlien H, Brogger JC, Hirsch LJ, Schomer DL, Trinka E, Pressler RM, et al. Journal article Current Practice of Anticoagulation for Pediatric VAD Therapy - A Multi-Institutional European Survey of the EXCOR Pediatric Investigator Group (EEPIG) (2017) Miera O, Schmitt KR, Menon AK, Ersel S, Reiprich A, Akintuerk H, Thul J, et al. Conference contribution Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery (2017) Blümcke I, Spreafico R, Haaker G, Coras R, Kobow K, Bien CG, Pfaefflin M, et al. Journal article Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (2016) Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, et al. Journal article Diagnostic methods and treatment options for focal cortical dysplasia (2015) Guerrini R, Duchowny M, Jayakar P, Krsek P, Kahane P, Tassi L, Melani F, et al. Journal article Multiphasic presentation of Rasmussen's encephalitis (2015) Avbersek A, Miserocchi A, Mcevoy AW, Patel AV, Aronica E, Blümcke I, Jacques TS, et al. Journal article Successful private-public funding of paediatric medicines research: lessons from the EU programme to fund research into off-patent medicines (2015) Ruggieri L, Giannuzzi V, Baiardi P, Bonifazi F, Davies EH, Giaquinto C, Bonifazi D, et al. Journal article