| Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member JD Brook, ME McCurrach, HG Harley, AJ Buckler, D Church, H Aburatani, ... Cell 68 (4), 799-808, 1992 | 3326 | 1992 |
| A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes ME MacDonald, CM Ambrose, MP Duyao, RH Myers, C Lin, L Srinidhi, ... Cell 72 (6), 971-983, 1993 | 2215 | 1993 |
| Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34 M Slegtenhorst, R Hoogt, C Hermans, M Nellist, B Janssen, S Verhoef, ... Science 277 (5327), 805-808, 1997 | 1903 | 1997 |
| Positional candidate cloning of a QTL in dairy cattle: identification of a missense mutation in the bovine DGAT1 gene with major effect on milk yield and composition B Grisart, W Coppieters, F Farnir, L Karim, C Ford, P Berzi, N Cambisano, ... Genome research 12 (2), 222-231, 2002 | 1339 | 2002 |
| Requirement of STAT5b for sexual dimorphism of body growth rates and liver gene expression GB Udy, RP Towers, RG Snell, RJ Wilkins, SH Park, PA Ram, DJ Waxman, ... Proceedings of the National Academy of Sciences 94 (14), 7239-7244, 1997 | 1235 | 1997 |
| Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease RG Snell, JC MacMillan, JP Cheadle, I Fenton, LP Lazarou, P Davies, ... Nature genetics 4 (4), 393-397, 1993 | 889 | 1993 |
| Interaction Between Hamartin and Tuberin, the TSC1 and TSC2 Gene Products M Van Slegtenhorst, M Nellist, B Nagelkerken, J Cheadle, R Snell, ... Human molecular genetics 7 (6), 1053-1057, 1998 | 647 | 1998 |
| Molecular dissection of a quantitative trait locus: a phenylalanine-to-tyrosine substitution in the transmembrane domain of the bovine growth hormone receptor is associated … S Blott, JJ Kim, S Moisio, A Schmidt-Küntzel, A Cornet, P Berzi, ... Genetics 163 (1), 253-266, 2003 | 540 | 2003 |
| Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic … AC Jones, CE Daniells, RG Snell, M Tachataki, SA Idziaszczyk, ... Human Molecular Genetics 6 (12), 2155-2161, 1997 | 317 | 1997 |
| Characterization of the DGAT1 gene in the New Zealand dairy population RJ Spelman, CA Ford, P McElhinney, GC Gregory, RG Snell Journal of Dairy Science 85 (12), 3514-3517, 2002 | 313 | 2002 |
| Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration C Chiang, JC Jacobsen, C Ernst, C Hanscom, A Heilbut, I Blumenthal, ... Nature genetics 44 (4), 390-397, 2012 | 284 | 2012 |
| 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 | 242 | 2010 |
| 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 | 187 | 2002 |
| Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle MD Littlejohn, KM Henty, K Tiplady, T Johnson, C Harland, T Lopdell, ... Nature communications 5 (1), 5861, 2014 | 161 | 2014 |
| Amyloid-like inclusions in Huntington’s disease DP McGowan, W van Roon-Mom, H Holloway, GP Bates, L Mangiarini, ... Neuroscience 100 (4), 677-680, 2000 | 143 | 2000 |
| 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 | 141 | 2003 |
| Molecular analysis and clinical correlations of the Huntington's disease mutation JC MacMillan, RG Snell, A Tyler, GD Houlihan, I Fenton, JP Cheadle, ... The Lancet 342 (8877), 954-958, 1993 | 131 | 1993 |
| Sequence-based Association Analysis Reveals an MGST1 eQTL with Pleiotropic Effects on Bovine Milk Composition MD Littlejohn, K Tiplady, TA Fink, K Lehnert, T Lopdell, T Johnson, ... Scientific reports 6 (1), 25376, 2016 | 122 | 2016 |
| Mutation in bovine β-carotene oxygenase 2 affects milk color SD Berry, SR Davis, EM Beattie, NL Thomas, AK Burrett, HE Ward, ... Genetics 182 (3), 923-926, 2009 | 120 | 2009 |
| Separation of chromosomal DNA molecules from C. albicans by pulsed field gel electropboresis RG Snell, RJ Willrins Nucleic acids research 14 (11), 4401-4420, 1986 | 119 | 1986 |
