| Gephyrin: where do we stand, where do we go? JM Fritschy, RJ Harvey, G Schwarz, Swansea-Data Trends in Neurosciences 31 (5), 257-264, 2008 | 375 | 2008 |
| The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering K Harvey, IC Duguid, MJ Alldred, SE Beatty, H Ward, NH Keep, ... Journal of Neuroscience 24 (25), 5816-5826, 2004 | 320 | 2004 |
| De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies CT Myers, JM McMahon, AL Schneider, S Petrovski, AS Allen, GL Carvill, ... American Journal of Human Genetics 99 (2), 287-298, 2016 | 251 | 2016 |
| An ovine transgenic Huntington's disease model JC Jacobsen, CS Bawden, SR Rudiger, CJ McLaughlan, SJ Reid, ... Human Molecular Genetics 19 (10), 1873-1882, 2010 | 239 | 2010 |
| Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease MI Rees, K Harvey, BR Pearce, SK Chung, IC Duguid, P Thomas, ... Nature Genetics 38 (7), 801-806, 2006 | 236 | 2006 |
| Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... American Journal of Human Genetics 105 (2), 267-282, 2019 | 230 | 2019 |
| The genetics of hyperekplexia: more than startle! RJ Harvey, M Topf, K Harvey, MI Rees Trends in Genetics 24 (9), 439-447, 2008 | 218 | 2008 |
| TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins RA Kumar, DT Pilz, TD Babatz, TD Cushion, K Harvey, M Topf, L Yates, ... Human Molecular Genetics 19 (14), 2817-2827, 2010 | 217 | 2010 |
| Dynamic changes in myelin aberrations and oligodendrocyte generation in chronic amyloidosis in mice and men G Behrendt, K Baer, A Buffo, MA Curtis, RL Faull, MI Rees, M Götz, ... Glia 61 (2), 273-286, 2013 | 198 | 2013 |
| Immunohistochemical staining of post-mortem adult human brain sections HJ Waldvogel, MA Curtis, K Baer, MI Rees, RLM Faull Nature Protocols 1 (6), 2719-2732, 2006 | 197 | 2006 |
| Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB) MI Rees, TM Lewis, JBJ Kwok, GR Mortier, P Govaert, RG Snell, ... Human Molecular Genetics 11 (7), 853-860, 2002 | 188 | 2002 |
| A two-stage genome scan for schizophrenia susceptibility genes in 196 affected sibling pairs NM Williams, MI Rees, P Holmans, N Norton, AG Cardno, LA Jones, ... Human Molecular Genetics 8 (9), 1729-1739, 1999 | 188 | 1999 |
| Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function RP Young, R Hopkins, PN Black, C Eddy, L Wu, GD Gamble, GD Mills, ... Thorax 61 (5), 394-399, 2006 | 187 | 2006 |
| Association studies of bipolar disorder at the human serotonin transporter gene (hSERT; 5HTT) MI Rees, N Norton, I Jones, F McCandless, J Scourfield, P Holmans, ... Molecular Psychiatry 2 (5), 398-402, 1997 | 182 | 1997 |
| Ultra-rare genetic variation in common epilepsies: a case-control sequencing study AS Allen, ST Bellows, SF Berkovic, J Bridgers, R Burgess, G Cavalleri, ... Lancet Neurology 16 (2), 135-143, 2017 | 168 | 2017 |
| Overlapping cortical malformations and mutations in TUBB2B and TUBA1A TD Cushion, WB Dobyns, JGL Mullins, N Stoodley, SK Chung, AE Fry, ... Brain 136 (2), 536-548, 2013 | 162 | 2013 |
| Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the α1 subunit of the inhibitory glycine receptor MI Rees, M Andrew, S Jawad, MJ Owen Human Molecular Genetics 3 (12), 2175-2179, 1994 | 162 | 1994 |
| Misdiagnosis of long QT syndrome as epilepsy at first presentation JM MacCormick, H McAlister, J Crawford, JK French, I Crozier, ... Annals of Emergency Medicine 54 (1), 26-32, 2009 | 159 | 2009 |
| A cross-disorder dosage sensitivity map of the human genome RL Collins, JT Glessner, E Porcu, M Lepamets, R Brandon, C Lauricella, ... Cell 185 (16), 3041-3055, 2022 | 154 | 2022 |
| Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia MI Rees, K Harvey, H Ward, JH White, L Evans, IC Duguid, CCH Hsu, ... Journal of Biological Chemistry 278 (27), 24688-24696, 2003 | 142 | 2003 |
