| Assessment of minimal residual disease in standard-risk AML A Ivey, RK Hills, MA Simpson, JV Jovanovic, A Gilkes, A Grech, Y Patel, ... New England Journal of Medicine 374 (5), 422-433, 2016 | 927 | 2016 |
| Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis A Onoufriadis, MA Simpson, AE Pink, P Di Meglio, CH Smith, ... The American Journal of Human Genetics 89 (3), 432-437, 2011 | 602 | 2011 |
| Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome) P Ostergaard, MA Simpson, FC Connell, CG Steward, G Brice, ... Nature genetics 43 (10), 929-931, 2011 | 592 | 2011 |
| Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase MA Simpson, H Cross, C Proukakis, DA Priestman, DCA Neville, ... Nature genetics 36 (11), 1225-1229, 2004 | 470 | 2004 |
| Diagnostic strategies in CADASIL HS Markus, RJ Martin, MA Simpson, YB Dong, N Ali, AH Crosby, ... Neurology 59 (8), 1134-1138, 2002 | 470 | 2002 |
| Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS BN Smith, N Ticozzi, C Fallini, AS Gkazi, S Topp, KP Kenna, EL Scotter, ... Neuron 84 (2), 324-331, 2014 | 445 | 2014 |
| Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy M Norman, M Simpson, J Mogensen, A Shaw, S Hughes, P Syrris, ... Circulation 112 (5), 636-642, 2005 | 381 | 2005 |
| Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting L Samuelov, O Sarig, RM Harmon, D Rapaport, A Ishida-Yamamoto, ... Nature genetics 45 (10), 1244-1248, 2013 | 367 | 2013 |
| Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss MA Simpson, MD Irving, E Asilmaz, MJ Gray, D Dafou, FV Elmslie, ... Nature genetics 43 (4), 303-305, 2011 | 354 | 2011 |
| Deficiency of terminal ADP‐ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease R Sharifi, R Morra, C Denise Appel, M Tallis, B Chioza, G Jankevicius, ... The EMBO journal 32 (9), 1225-1237, 2013 | 340 | 2013 |
| Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis E Fotiou, S Martin-Almedina, MA Simpson, S Lin, K Gordon, G Brice, ... Nature communications 6 (1), 8085, 2015 | 323 | 2015 |
| Mutations in TJP2 cause progressive cholestatic liver disease M Sambrotta, S Strautnieks, E Papouli, P Rushton, BE Clark, DA Parry, ... Nature genetics 46 (4), 326-328, 2014 | 322 | 2014 |
| Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management A Bierzynska, HJ McCarthy, K Soderquest, ES Sen, E Colby, WY Ding, ... Kidney international 91 (4), 937-947, 2017 | 310 | 2017 |
| Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia K Tuschl, E Meyer, LE Valdivia, N Zhao, C Dadswell, A Abdul-Sada, ... Nature communications 7 (1), 11601, 2016 | 305 | 2016 |
| Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy T Cullup, AL Kho, C Dionisi-Vici, B Brandmeier, F Smith, Z Urry, ... Nature genetics 45 (1), 83-87, 2013 | 298 | 2013 |
| De novo mutations in MLL cause Wiedemann-Steiner syndrome WD Jones, D Dafou, M McEntagart, WJ Woollard, FV Elmslie, ... The American Journal of Human Genetics 91 (2), 358-364, 2012 | 292 | 2012 |
| Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development S Cappello, MJ Gray, C Badouel, S Lange, M Einsiedler, M Srour, ... Nature genetics 45 (11), 1300-1308, 2013 | 274 | 2013 |
| Negligible impact of rare autoimmune-locus coding-region variants on missing heritability KA Hunt, V Mistry, NA Bockett, T Ahmad, M Ban, JN Barker, JC Barrett, ... Nature 498 (7453), 232-235, 2013 | 244 | 2013 |
| γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis AE Pink, MA Simpson, N Desai, RC Trembath, JNW Barker Journal of Investigative Dermatology 133 (3), 601-607, 2013 | 231 | 2013 |
| Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration MK Tsaousidou, K Ouahchi, TT Warner, Y Yang, MA Simpson, NG Laing, ... The American Journal of Human Genetics 82 (2), 510-515, 2008 | 230 | 2008 |
Dimitra DafouSchool of Biology, Department of Genetics, Development and Molecular Biology, Aristotle Universitybio.auth.gr üzerinde doğrulanmış e-posta adresine sahip