BCL11A haploinsufficiency causes an intellectual disability syndrome and dysregulates transcription C Dias, SB Estruch, SA Graham, J McRae, SJ Sawiak, JA Hurst, SK Joss, ... The American Journal of Human Genetics 99 (2), 253-274, 2016 | 168 | 2016 |
Spectrum of imaging findings at chest radiography, US, CT, and MRI in multisystem inflammatory syndrome in children associated with COVID-19 S Hameed, H Elbaaly, CEL Reid, RMF Santos, V Shivamurthy, J Wong, ... Radiology 298 (1), E1-E10, 2021 | 147 | 2021 |
Manchester Arena bombing: lessons learnt from a mass casualty incident RJ Craigie, PJ Farrelly, R Santos, SR Smith, JS Pollard, DJ Jones BMJ Mil Health 166 (2), 72-75, 2020 | 68 | 2020 |
Can T2 relaxation values and color maps be used to detect chondral damage utilizing subchondral bone marrow edema as a marker? HJS Bining, R Santos, G Andrews, BB Forster Skeletal radiology 38, 459-465, 2009 | 49 | 2009 |
Achondroplasia foramen magnum score: screening infants for stenosis MS Cheung, M Irving, A Cocca, R Santos, M Shaunak, H Dougherty, ... Archives of disease in childhood 106 (2), 180-184, 2021 | 35 | 2021 |
Indeterminate pulmonary nodules at diagnosis in rhabdomyosarcoma: are they clinically significant? A report from the European Paediatric Soft Tissue Sarcoma Study Group B Vaarwerk, G Bisogno, K McHugh, HJ Brisse, C Morosi, N Corradini, ... Journal of Clinical Oncology 37 (9), 723-730, 2019 | 26 | 2019 |
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation C Dias, A McDonald, M Sincan, R Rupps, T Markello, R Salvarinova, ... European Journal of Human Genetics 21 (11), 1232-1239, 2013 | 21 | 2013 |
Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management V Sathyanarayana, B Lee, NB Wright, R Santos, D Bonney, R Wynn, ... Pediatric Nephrology 33, 1547-1551, 2018 | 19 | 2018 |
Post-COVID-19 paediatric inflammatory multisystem syndrome: association of ethnicity, key worker and socioeconomic status with risk and severity J Broad, J Forman, J Brighouse, A Sobande, A McIntosh, C Watterson, ... Archives of Disease in Childhood 106 (12), 1218-1225, 2021 | 16 | 2021 |
Monitoring response to conventional treatment in children with XLH: Value of ALP and Rickets Severity Score (RSS) in a real world setting S Uday, NJ Shaw, MZ Mughal, T Randell, W Högler, R Santos, ... Bone 151, 116025, 2021 | 12 | 2021 |
Developing new models of care at speed: learning from healthcare redesign for children with COVID-related multisystem inflammation CR Cheung, A Finnemore, J Handforth, R Bohmer, N Christiansen, ... Archives of Disease in Childhood 106 (6), 528-532, 2021 | 3 | 2021 |
Angiomyxoma In accessory hepatic lobe A Rossi, F Pederiva, R Santos, S Wood, G Humphrey APSP Journal of Case Reports 7 (1), 10, 2015 | 3 | 2015 |
Centrally mediated obstructive apnoea and restenosis of the foramen magnum in an infant with achondroplasia A Cocca, D Thompson, Z Rahim, M Irving, M Farquhar, R Santos, ... British Journal of Neurosurgery 37 (3), 409-412, 2023 | 2 | 2023 |
Nine-month follow-up data on biochemical, clinical, radiological and functional parameters in a clinical cohort of children at Evelina London Children JL Sandy, R Gilbey-Cross, R Santos, SD Sakka, A Cocca, M Morris, ... Bone Abstracts 7, 2019 | 1 | 2019 |
Use of Zoledronic acid in children with sickle cell disease: a single centre experience R Nadar, R Santos, M Cheung, A Cocca, B Inusa, S Sakka HORMONE RESEARCH IN PAEDIATRICS 95 (SUPPL 2), 149-149, 2022 | | 2022 |
Bone biopsy histomorphometric features of vertebral changes in sickle cell disease S Sakka, R Nadar, B Inusa, A Cocca, R Santos, M Cheung HORMONE RESEARCH IN PAEDIATRICS 95 (SUPPL 2), 69-70, 2022 | | 2022 |
Sinister sinusitis JR Brighouse, K Shepherd, R Santos, V Shivamurthy Archives of Disease in Childhood-Education and Practice 107 (2), 113-115, 2022 | | 2022 |
Clinical, functional and quality of life outcomes of Burosumab therapy in children with X-linked hypophosphoataemia: a real world, London experience J Sandy, R Gilbey-Cross, R Santos, S Sakka, A Cocca, M Morris, ... Endocrine Abstracts 66, 2019 | | 2019 |
Monitoring and long-term disease activity in children with X-linked hypophosphataemia on conventional therapy S Uday, N Shaw, Z Mughal, T Randell, W Hogler, R Santos, R Padidela Endocrine Abstracts 66, 2019 | | 2019 |
A real world, clinical experience of Burosumab therapy in a cohort of children with X-linked hypophosphataemia J Sandy, R Gilbey-Cross, R Santos, A Cocca, S Sakka, M Morris, ... HORMONE RESEARCH IN PAEDIATRICS 91, 619-620, 2019 | | 2019 |