In the last year, Great Ormond Street Hospital (GOSH) and the UCL Institute of Child Health (ICH) have published more than 350 articles and reviews in academic journals, many of them in specialist journals such as Archives of Disease in Childhood, but also counting 12 papers in high-impact publications including the Lancet, Nature Genetics and the New England Journal of Medicine.
Professor Francesco Muntoni, Dr Sebahattin Cirak, Dr Virginia Arechavala-Gomeza, Dr Lucy Feng, Dr Silvia Torelli, Dr Karen Anthony, Professor Caroline Sewry, Dr Jennifer Morgan and others: “
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study” S Cirak
et al, Lancet 378 (9791), 595-605 (2011)
Dr Kjell Tullus and others: “
Medical progress: Febrile urinary tract infections in children” G Montini
et al, N. Engl. J. Med. 365 (3), 239-250 (2011)
Professor Paul Riley, Dr Nicola Smart, Dr Sveva Bollini, Ms Karina Dubé, Dr Joaquim Vieira, Mr Johannes Riegler, Dr Mark Lythgoe and others: “
De novo cardiomyocytes from within the activated adult heart after injury” N Smart
et al, Nature 474 (7353), 640-644 (2011)
Dr Joy Lawn and others: “
Stillbirths 4: How can health systems deliver for mothers and babies?” R Pattinson
et al, Lancet 377 (9777), 1610-1623 (2011)
Dr Joy Lawn and others: “
Stillbirths 3: What difference can we make and at what cost?” ZA Bhutto
et al, Lancet 377 (9776), 1523-1538 (2011)
Dr Joy Lawn and others: “
Stillbirths 2: Where? When? Why? How to make the data count?” JE Lawn
et al, Lancet 377 (9775), 1448-1463 (2011)
Professor Tim Cole, Professor Peter Hindmarsh and others: “
Effect of oxandrolone and timing of pubertal induction on final height in Turner’s syndrome: randomised, double blind, placebo controlled trial” EJ Gault
et al, Br. Med. J. 342, d1980 (2011)
Dr Caroline Brain and others: “
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss” MA Simpson
et al, Nature Genet. 43 (4), 303-305 (2011)
Professor Philip Beales, Dr Caroline Rooryck, Dr Anna Diaz-Font, Dr Daniel Osborn, Dr Victor Hernandez-Hernandez, Dr Aoife Waters, Dr Dagan Jenkins, Dr Joanna Kenny, Dr Maria Bitner-Glindzicz, Dr Melissa Lees, Dr Philip Stanier, Dr Alan Burns and others: “
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome” C Rooryck
et al, Nature Genet. 43 (3), 197-203 (2011)
Professor Robert Kleta, Dr Horia Stanescu, Dr Detlef Bockenhauer, Miss Naina Patel, Ms Kerra Pearce, Dr Mike Hubank and others: “
Risk HLA-DQA1 and PLA(sub 2)R1 alleles in idiopathic membranous nephropathy” HC Stanescu
et al, N. Engl. J. Med. 364 (7), 616-626 (2011)
Dr Helena Kempski and others: “
Genetic variegation of clonal architecture and propagating cells in leukaemia” K Anderson
et al, Nature 469 (7330), 356-361 (2011)
Dr Ajith Kumar and others: “
Brief report: AIP mutation in pituitary adenomas in the 18th century and today” HS Chahal et al, N. Engl. J. Med. 364 (1), 43-50 (2011)
