Great Ormond Street Hospital (GOSH)


London, United Kingdom

Publications in cooperation with FAU scientists

Burgmaier, K., Kilian, S., Bammens, B., Benzing, T., Billing, H., Buescher, A.,... Liebau, M.C. (2019). Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD). Scientific Reports, 9(1), 7919-.
Blümcke, I., Coras, R., Wefers, A.K., Capper, D., Aronica, E., Becker, A.,... Thom, M. (2019). Review: Challenges in the histopathological classification of ganglioglioma and DNT: microscopic agreement studies and a preliminary genotype-phenotype analysis. Neuropathology and Applied Neurobiology, 45(2), 95-107.
Gregor, A., Sadleir, L.G., Asadollahi, R., Azzarello-Burri, S., Battaglia, A., Ousager, L.B.,... Zweier, C. (2018). De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. American Journal of Human Genetics, 103(2), 305-316.
Capper, D., Jones, D.T.W., Sill, M., Hovestadt, V., Schrimpf, D., Sturm, D.,... Pfister, S.M. (2018). DNA methylation-based classification of central nervous system tumours. Nature, 555(7697), 469-474.
Germeshausen, M., Ancliff, P., Estrada, J., Metzler, M., Ponstingl, E., Ruetschle, H.,... Ballmaier, M. (2018). MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia. Blood Advances, 2(6), 586-596.
Kalwak, K., Bader, P., Styczynski, J., Gruhn, B., Patrick, K., Sedlacek, P.,... Vora, A. (2018). Prospective Clinical Phase II Results on Treosulfan-Based Conditioning Treatment of 70 Paediatric Patients with Haematological Malignancies. In BLOOD. San Diego, CA, US: WASHINGTON: AMER SOC HEMATOLOGY.
Apps, J.R., Carreno, G., Mario Gonzalez-Meljem, J., Haston, S., Guiho, R., Cooper, J.E.,... Martinez-Barbera, J.P. (2018). 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. Acta Neuropathologica, 135(5), 757-777.
Miera, O., Schmitt, K.R., Menon, A.K., Ersel, S., Reiprich, A., Akintuerk, H.,... Amodeo, A. (2017). Current Practice of Anticoagulation for Pediatric VAD Therapy - A Multi-Institutional European Survey of the EXCOR Pediatric Investigator Group (EEPIG). (pp. S278-S278).
Blümcke, I., Spreafico, R., Haaker, G., Coras, R., Kobow, K., Bien, C.G.,... Avanzini, G. (2017). Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery. New England Journal of Medicine, 377(17), 1648-1656.
Beniczky, S., Aurlien, H., Brogger, J.C., Hirsch, L.J., Schomer, D.L., Trinka, E.,... Herman, S.T. (2017). Standardized computer-based organized reporting of EEG: SCORE - Second version. Clinical Neurophysiology, 128(11), 2334-2346.
Meyer, E., Carss, K.J., Rankin, J., Nichols, J.M.E., Grozeva, D., Joseph, A.P.,... Kurian, M.A. (2016). Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics.
Giarrana, M.L., Joset, P., Sticht, H., Robb, S., Steindl, K., Rauch, A., & Klein, A. (2015). A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations. Muscle & Nerve, 52(4), 668-73.
Guerrini, R., Duchowny, M., Jayakar, P., Krsek, P., Kahane, P., Tassi, L.,... Blümcke, I. (2015). Diagnostic methods and treatment options for focal cortical dysplasia. Epilepsia, 56(11), 1669-86.
Avbersek, A., Miserocchi, A., Mcevoy, A.W., Patel, A.V., Aronica, E., Blümcke, I.,... Sisodiya, S.M. (2015). Multiphasic presentation of Rasmussen's encephalitis. Epileptic Disorders, 17(3), 315-20.
Ruggieri, L., Giannuzzi, V., Baiardi, P., Bonifazi, F., Davies, E.H., Giaquinto, C.,... Ceci, A. (2015). Successful private-public funding of paediatric medicines research: lessons from the EU programme to fund research into off-patent medicines. European Journal of Pediatrics, 174(4), 481-91.

Last updated on 2016-13-12 at 07:50