A mutation in the thyroid hormone receptor alpha gene E Bochukova, N Schoenmakers, M Agostini, E Schoenmakers, ... New England Journal of Medicine 366 (3), 243-249, 2012 | 429 | 2012 |
Consensus statement on abusive head trauma in infants and young children AK Choudhary, S Servaes, TL Slovis, VJ Palusci, GL Hedlund, SK Narang, ... Pediatric Radiology 48, 1048-1065, 2018 | 350 | 2018 |
Post-mortem MRI versus conventional autopsy in fetuses and children: a prospective validation study S Thayyil, NJ Sebire, LS Chitty, A Wade, WK Chong, O Olsen, RS Gunny, ... The Lancet 382 (9888), 223-233, 2013 | 341 | 2013 |
Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium MK Javaid, A Boyce, N Appelman-Dijkstra, J Ong, P Defabianis, A Offiah, ... Orphanet journal of rare diseases 14, 1-17, 2019 | 258 | 2019 |
Abnormal vertebral segmentation and the notch signaling pathway in man PD Turnpenny, B Alman, AS Cornier, PF Giampietro, A Offiah, O Tassy, ... Developmental dynamics: an official publication of the American Association …, 2007 | 189 | 2007 |
Acute osteomyelitis, septic arthritis and discitis: differences between neonates and older children AC Offiah European journal of radiology 60 (2), 221-232, 2006 | 188 | 2006 |
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine E Mercuri, E Clements, A Offiah, A Pichiecchio, G Vasco, F Bianco, ... Annals of Neurology: Official Journal of the American Neurological …, 2010 | 165 | 2010 |
Post-mortem examination of human fetuses: a comparison of whole-body high-field MRI at 9· 4 T with conventional MRI and invasive autopsy S Thayyil, JO Cleary, NJ Sebire, RJ Scott, K Chong, R Gunny, CM Owens, ... The Lancet 374 (9688), 467-475, 2009 | 165 | 2009 |
Skeletal imaging of child abuse (non-accidental injury) A Offiah, RR van Rijn, JM Perez-Rossello, PK Kleinman Pediatric radiology 39, 461-470, 2009 | 157 | 2009 |
An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α C Moran, N Schoenmakers, M Agostini, E Schoenmakers, A Offiah, ... The Journal of Clinical Endocrinology & Metabolism 98 (11), 4254-4261, 2013 | 146 | 2013 |
HR‐pQCT measures of bone microarchitecture predict fracture: systematic review and meta‐analysis N Mikolajewicz, N Bishop, AJ Burghardt, L Folkestad, A Hall, KM Kozloff, ... Journal of Bone and Mineral Research 35 (3), 446-459, 2020 | 144 | 2020 |
The phenotype of survivors of campomelic dysplasia S Mansour, AC Offiah, S McDowall, P Sim, J Tolmie, C Hall Journal of medical genetics 39 (8), 597-602, 2002 | 137 | 2002 |
Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR) α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients C Moran, M Agostini, WE Visser, E Schoenmakers, N Schoenmakers, ... The lancet Diabetes & endocrinology 2 (8), 619-626, 2014 | 125 | 2014 |
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an … GC Jackson, L Mittaz‐Crettol, JA Taylor, GR Mortier, J Spranger, B Zabel, ... Human mutation 33 (1), 144-157, 2012 | 125 | 2012 |
Is the Greulich and Pyle atlas applicable to all ethnicities? A systematic review and meta-analysis K Alshamrani, F Messina, AC Offiah European radiology 29, 2910-2923, 2019 | 112 | 2019 |
Post mortem magnetic resonance imaging in the fetus, infant and child: a comparative study with conventional autopsy (MaRIAS Protocol) S Thayyil, NJ Sebire, LS Chitty, A Wade, O Olsen, RS Gunny, A Offiah, ... BMC pediatrics 11, 1-10, 2011 | 110 | 2011 |
Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment C Quinlan, K Guegan, A Offiah, RO Neill, MP Hiorns, S Ellard, ... Pediatric Nephrology 27, 581-588, 2012 | 95 | 2012 |
Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans PF Giampietro, SL Dunwoodie, K Kusumi, O Pourquié, O Tassy, AC Offiah, ... Annals of the New York Academy of Sciences 1151 (1), 38-67, 2009 | 89 | 2009 |
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia R Savarirayan, P Ireland, M Irving, D Thompson, I Alves, WAR Baratela, ... Nature Reviews Endocrinology 18 (3), 173-189, 2022 | 81 | 2022 |
Comparison of diagnostic performance for perinatal and paediatric post-mortem imaging: CT versus MRI OJ Arthurs, A Guy, S Thayyil, A Wade, R Jones, W Norman, R Scott, ... European radiology 26, 2327-2336, 2016 | 81 | 2016 |