| Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome M Tartaglia, EL Mehler, R Goldberg, G Zampino, HG Brunner, H Kremer, ... Nature genetics 29 (4), 465-468, 2001 | 1913 | 2001 |
| Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease) G McKoy, N Protonotarios, A Crosby, A Tsatsopoulou, A Anastasakis, ... The Lancet 355 (9221), 2119-2124, 2000 | 1324 | 2000 |
| PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity M Tartaglia, K Kalidas, A Shaw, X Song, DL Musat, I van der Burgt, ... The American Journal of Human Genetics 70 (6), 1555-1563, 2002 | 848 | 2002 |
| Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms S Salinas, C Proukakis, A Crosby, TT Warner The Lancet Neurology 7 (12), 1127-1138, 2008 | 633 | 2008 |
| 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 | 456 | 2004 |
| Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome C Windpassinger, M Auer-Grumbach, J Irobi, H Patel, E Petek, G Hörl, ... Nature genetics 36 (3), 271-276, 2004 | 453 | 2004 |
| Diagnostic strategies in CADASIL HS Markus, RJ Martin, MA Simpson, YB Dong, N Ali, AH Crosby, ... Neurology 59 (8), 1134-1138, 2002 | 451 | 2002 |
| 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 | 369 | 2005 |
| SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia H Patel, H Cross, C Proukakis, R Hershberger, P Bork, FD Ciccarelli, ... Nature genetics 31 (4), 347-348, 2002 | 321 | 2002 |
| 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 | 311 | 2013 |
| The natural history of Noonan syndrome: a long-term follow-up study AC Shaw, K Kalidas, AH Crosby, S Jeffery, MA Patton Archives of disease in childhood 92 (2), 128-132, 2007 | 311 | 2007 |
| Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C M Auer-Grumbach, A Olschewski, L Papić, H Kremer, ME McEntagart, ... Nature genetics 42 (2), 160-164, 2010 | 304 | 2010 |
| 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 | 222 | 2008 |
| Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35) KJ Dick, M Eckhardt, C Paisán‐Ruiz, AA Alshehhi, C Proukakis, ... Human mutation 31 (4), E1251-E1260, 2010 | 219 | 2010 |
| Mutations in MAP3K1 cause 46, XY disorders of sex development and implicate a common signal transduction pathway in human testis determination A Pearlman, J Loke, C Le Caignec, S White, L Chin, A Friedman, N Warr, ... The American Journal of Human Genetics 87 (6), 898-904, 2010 | 217 | 2010 |
| Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches S Shribman, E Reid, AH Crosby, H Houlden, TT Warner The Lancet Neurology 18 (12), 1136-1146, 2019 | 216 | 2019 |
| Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia MA Simpson, H Cross, C Proukakis, A Pryde, R Hershberger, ... The American Journal of Human Genetics 73 (5), 1147-1156, 2003 | 214 | 2003 |
| Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development MA Simpson, R Hsu, LS Keir, J Hao, G Sivapalan, LM Ernst, EH Zackai, ... The American Journal of Human Genetics 81 (5), 906-912, 2007 | 211 | 2007 |
| The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia FD Ciccarelli, C Proukakis, H Patel, H Cross, S Azam, MA Patton, P Bork, ... Genomics 81 (4), 437-441, 2003 | 172 | 2003 |
| Is the transportation highway the right road for hereditary spastic paraplegia? AH Crosby, C Proukakis The American Journal of Human Genetics 71 (5), 1009-1016, 2002 | 154 | 2002 |
