| An SCN9A channelopathy causes congenital inability to experience pain JJ Cox, F Reimann, AK Nicholas, G Thornton, E Roberts, K Springell, ... Nature 444 (7121), 894-898, 2006 | 1887 | 2006 |
| A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation PS Tarpey, R Smith, E Pleasance, A Whibley, S Edkins, C Hardy, ... Nature genetics 41 (5), 535-543, 2009 | 688 | 2009 |
| Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene J Gray, GSH Yeo, JJ Cox, J Morton, ALR Adlam, JM Keogh, JA Yanovski, ... Diabetes 55 (12), 3366-3371, 2006 | 595 | 2006 |
| A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome B Kremeyer, F Lopera, JJ Cox, A Momin, F Rugiero, S Marsh, CG Woods, ... Neuron 66 (5), 671-680, 2010 | 521 | 2010 |
| INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse M Jacoby, JJ Cox, S Gayral, DJ Hampshire, M Ayub, M Blockmans, ... Nature genetics 41 (9), 1027-1031, 2009 | 371 | 2009 |
| Pain perception is altered by a nucleotide polymorphism in SCN9A F Reimann, JJ Cox, I Belfer, L Diatchenko, DV Zaykin, DP McHale, ... Proceedings of the National Academy of Sciences 107 (11), 5148-5153, 2010 | 369 | 2010 |
| WDR62 is associated with the spindle pole and is mutated in human microcephaly AK Nicholas, M Khurshid, J Désir, OP Carvalho, JJ Cox, G Thornton, ... Nature genetics 42 (11), 1010-1014, 2010 | 358 | 2010 |
| Quantification of homozygosity in consanguineous individuals with autosomal recessive disease CG Woods, J Cox, K Springell, DJ Hampshire, MD Mohamed, M McKibbin, ... The American Journal of Human Genetics 78 (5), 889-896, 2006 | 313 | 2006 |
| Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome CG Woods, S Stricker, P Seemann, R Stern, J Cox, E Sherridan, ... The American Journal of Human Genetics 79 (2), 402-408, 2006 | 275 | 2006 |
| 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome L Willatt, J Cox, J Barber, ED Cabanas, A Collins, D Donnai, ... The American Journal of Human Genetics 77 (1), 154-160, 2005 | 270 | 2005 |
| Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis B Coste, G Houge, MF Murray, N Stitziel, M Bandell, MA Giovanni, ... Proceedings of the National Academy of Sciences 110 (12), 4667-4672, 2013 | 242 | 2013 |
| A role for Piezo2 in EPAC1-dependent mechanical allodynia N Eijkelkamp, JE Linley, JM Torres, L Bee, AH Dickenson, M Gringhuis, ... Nature communications 4 (1), 1682, 2013 | 237 | 2013 |
| Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation P Tarpey, J Parnau, M Blow, H Woffendin, G Bignell, C Cox, J Cox, ... The American Journal of Human Genetics 75 (2), 318-324, 2004 | 228 | 2004 |
| What primary microcephaly can tell us about brain growth J Cox, AP Jackson, J Bond, CG Woods Trends in molecular medicine 12 (8), 358-366, 2006 | 226 | 2006 |
| A SOX9 Duplication and Familial 46,XX Developmental Testicular Disorder JJ Cox, L Willatt, T Homfray, CG Woods New England Journal of Medicine 364 (1), 91-93, 2011 | 207 | 2011 |
| Endogenous opioids contribute to insensitivity to pain in humans and mice lacking sodium channel Nav1.7 MS Minett, V Pereira, S Sikandar, A Matsuyama, S Lolignier, ... Nature communications 6 (1), 8967, 2015 | 198 | 2015 |
| Sodium channel genes in pain-related disorders: phenotype–genotype associations and recommendations for clinical use SG Waxman, ISJ Merkies, MM Gerrits, SD Dib-Hajj, G Lauria, JJ Cox, ... The Lancet Neurology 13 (11), 1152-1160, 2014 | 190 | 2014 |
| The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis M Bakircioglu, OP Carvalho, M Khurshid, JJ Cox, B Tuysuz, T Barak, ... The American Journal of Human Genetics 88 (5), 523-535, 2011 | 186 | 2011 |
| TRPC3 and TRPC6 are essential for normal mechanotransduction in subsets of sensory neurons and cochlear hair cells K Quick, J Zhao, N Eijkelkamp, JE Linley, F Rugiero, JJ Cox, R Raouf, ... Open biology 2 (5), 120068, 2012 | 174 | 2012 |
| Congenital insensitivity to pain: novel SCN9A missense and in‐frame deletion mutations JJ Cox, J Sheynin, Z Shorer, F Reimann, AK Nicholas, L Zubovic, ... Human mutation 31 (9), E1670-E1686, 2010 | 150 | 2010 |
